Incidental Mutation 'R1776:Mylk'
| ID |
197068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mylk
|
| Ensembl Gene |
ENSMUSG00000022836 |
| Gene Name |
myosin, light polypeptide kinase |
| Synonyms |
Mlck, telokin, nmMlck, 9530072E15Rik, A930019C19Rik, MLCK108, MLCK210 |
| MMRRC Submission |
039807-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1776 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
34565580-34822790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34773152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1250
(D1250G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023538]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023538
AA Change: D1250G
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000023538
Gene: ENSMUSG00000022836
AA Change: D1250G
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
54 |
122 |
9.05e-11 |
SMART |
|
IGc2
|
177 |
244 |
3.94e-11 |
SMART |
|
Pfam:23ISL
|
255 |
409 |
3.6e-60 |
PFAM |
|
IGc2
|
423 |
491 |
1.55e-9 |
SMART |
|
IGc2
|
523 |
587 |
3.32e-18 |
SMART |
|
IGc2
|
632 |
699 |
6.02e-7 |
SMART |
|
IGc2
|
730 |
798 |
1.36e-5 |
SMART |
|
low complexity region
|
827 |
844 |
N/A |
INTRINSIC |
|
IGc2
|
1141 |
1208 |
2.42e-11 |
SMART |
|
low complexity region
|
1251 |
1269 |
N/A |
INTRINSIC |
|
IG
|
1275 |
1359 |
4.56e-7 |
SMART |
|
FN3
|
1362 |
1444 |
2.33e-11 |
SMART |
|
low complexity region
|
1457 |
1479 |
N/A |
INTRINSIC |
|
S_TKc
|
1495 |
1750 |
4.23e-95 |
SMART |
|
IGc2
|
1852 |
1920 |
5.92e-15 |
SMART |
|
low complexity region
|
1934 |
1950 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232482
|
| Meta Mutation Damage Score |
0.0739 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.3%
|
| Validation Efficiency |
98% (86/88) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that lack the isoform abundant in endothelial cells show a reduced susceptibility to acute lung injury. Mice lacking the smooth muscle isoform exhibit partial pre- or neonatal lethality, short small intestine and impaired smooth muscle contraction in the colon. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
T |
C |
10: 70,711,058 (GRCm39) |
|
noncoding transcript |
Het |
| 9430097D07Rik |
T |
C |
2: 32,464,767 (GRCm39) |
|
probably benign |
Het |
| A2m |
C |
G |
6: 121,618,383 (GRCm39) |
F225L |
probably damaging |
Het |
| Adamts19 |
T |
A |
18: 59,087,692 (GRCm39) |
I574N |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,417,300 (GRCm39) |
D104G |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,780,361 (GRCm39) |
N1804K |
probably benign |
Het |
| Ankle1 |
G |
T |
8: 71,861,918 (GRCm39) |
V474F |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,227,340 (GRCm39) |
V24A |
probably benign |
Het |
| Asph |
A |
T |
4: 9,598,773 (GRCm39) |
S149R |
probably damaging |
Het |
| Cass4 |
A |
T |
2: 172,269,615 (GRCm39) |
I568L |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdx1 |
G |
A |
18: 61,169,086 (GRCm39) |
A36V |
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,730,170 (GRCm39) |
S123T |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,519,681 (GRCm39) |
Q231L |
probably damaging |
Het |
| Clcnkb |
T |
C |
4: 141,142,500 (GRCm39) |
|
probably benign |
Het |
| Crabp2 |
C |
A |
3: 87,860,301 (GRCm39) |
T125K |
probably benign |
Het |
| Dennd3 |
A |
G |
15: 73,426,950 (GRCm39) |
T776A |
possibly damaging |
Het |
| Dnajb6 |
T |
C |
5: 29,990,091 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,380,593 (GRCm39) |
I1847N |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,599,362 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,879,100 (GRCm39) |
I63T |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,163,654 (GRCm39) |
F2067L |
possibly damaging |
Het |
| Fbxo16 |
T |
A |
14: 65,532,835 (GRCm39) |
|
probably null |
Het |
| Gm3604 |
C |
A |
13: 62,517,888 (GRCm39) |
G157* |
probably null |
Het |
| Gm5250 |
A |
G |
1: 13,132,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,067,007 (GRCm39) |
S503P |
possibly damaging |
Het |
| Herc4 |
T |
A |
10: 63,099,950 (GRCm39) |
C124* |
probably null |
Het |
| Ift27 |
T |
C |
15: 78,050,181 (GRCm39) |
D76G |
probably null |
Het |
| Igdcc3 |
C |
T |
9: 65,090,034 (GRCm39) |
Q550* |
probably null |
Het |
| Igsf6 |
T |
A |
7: 120,667,522 (GRCm39) |
I165F |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,677,773 (GRCm39) |
I173M |
probably damaging |
Het |
| Kbtbd6 |
G |
A |
14: 79,690,045 (GRCm39) |
D247N |
probably benign |
Het |
| Kcnq2 |
T |
A |
2: 180,742,350 (GRCm39) |
T394S |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,196,361 (GRCm39) |
|
probably benign |
Het |
| Mvp |
T |
C |
7: 126,591,933 (GRCm39) |
Q419R |
probably benign |
Het |
| Necab1 |
A |
G |
4: 15,111,267 (GRCm39) |
Y54H |
probably damaging |
Het |
| Nlk |
T |
A |
11: 78,477,853 (GRCm39) |
M297L |
probably benign |
Het |
| Nsl1 |
G |
T |
1: 190,795,385 (GRCm39) |
M50I |
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,660,257 (GRCm39) |
T441A |
probably damaging |
Het |
| Ofd1 |
A |
G |
X: 165,189,002 (GRCm39) |
Y755H |
probably benign |
Het |
| Or10d1c |
G |
A |
9: 38,894,190 (GRCm39) |
S50F |
probably damaging |
Het |
| Or6c69b |
C |
T |
10: 129,627,000 (GRCm39) |
V153I |
probably benign |
Het |
| Or8b12i |
G |
A |
9: 20,082,105 (GRCm39) |
T254I |
probably benign |
Het |
| Ovgp1 |
A |
T |
3: 105,885,114 (GRCm39) |
H151L |
possibly damaging |
Het |
| Pigz |
G |
A |
16: 31,763,397 (GRCm39) |
E152K |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,312,446 (GRCm39) |
D779E |
probably benign |
Het |
| Ppil4 |
A |
T |
10: 7,686,201 (GRCm39) |
E353V |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,520,950 (GRCm39) |
G741S |
probably damaging |
Het |
| Rplp0 |
T |
C |
5: 115,700,524 (GRCm39) |
Y231H |
probably benign |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rundc3b |
T |
C |
5: 8,629,050 (GRCm39) |
E117G |
probably damaging |
Het |
| Ryr2 |
A |
C |
13: 11,760,062 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,787,598 (GRCm39) |
M198K |
probably damaging |
Het |
| Sdhd |
T |
C |
9: 50,508,500 (GRCm39) |
K122R |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,861,810 (GRCm39) |
|
probably benign |
Het |
| Setd3 |
C |
A |
12: 108,131,420 (GRCm39) |
G2V |
probably damaging |
Het |
| Sfxn5 |
A |
G |
6: 85,244,927 (GRCm39) |
|
probably benign |
Het |
| She |
T |
A |
3: 89,739,345 (GRCm39) |
S179T |
possibly damaging |
Het |
| Slc24a2 |
G |
A |
4: 87,094,526 (GRCm39) |
T331I |
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,904,694 (GRCm39) |
W6R |
possibly damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,668,447 (GRCm39) |
S697P |
probably benign |
Het |
| Soat1 |
C |
T |
1: 156,269,991 (GRCm39) |
V143I |
probably benign |
Het |
| Sp8 |
T |
A |
12: 118,813,302 (GRCm39) |
F386I |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,381 (GRCm39) |
T510A |
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,339,588 (GRCm39) |
I125F |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,793,680 (GRCm39) |
I472F |
possibly damaging |
Het |
| Taar7f |
C |
T |
10: 23,925,546 (GRCm39) |
R47C |
probably benign |
Het |
| Tbc1d19 |
T |
A |
5: 54,046,653 (GRCm39) |
|
probably null |
Het |
| Tbc1d21 |
T |
A |
9: 58,274,011 (GRCm39) |
|
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,655,389 (GRCm39) |
I529T |
possibly damaging |
Het |
| Tgfbr2 |
A |
T |
9: 116,004,035 (GRCm39) |
I24N |
possibly damaging |
Het |
| Tgm1 |
T |
C |
14: 55,946,854 (GRCm39) |
T385A |
probably damaging |
Het |
| Tgm2 |
T |
C |
2: 157,973,379 (GRCm39) |
N244S |
probably benign |
Het |
| Thoc5 |
T |
C |
11: 4,864,517 (GRCm39) |
|
probably benign |
Het |
| Tmc2 |
A |
T |
2: 130,076,789 (GRCm39) |
I372F |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,520 (GRCm39) |
D222G |
probably damaging |
Het |
| Trhde |
T |
G |
10: 114,636,508 (GRCm39) |
N233T |
probably benign |
Het |
| Tstd3 |
T |
C |
4: 21,759,475 (GRCm39) |
Y99C |
probably damaging |
Het |
| Ttc22 |
A |
T |
4: 106,496,237 (GRCm39) |
D429V |
possibly damaging |
Het |
| Ugcg |
A |
G |
4: 59,207,775 (GRCm39) |
N38S |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,460,400 (GRCm39) |
I2554V |
possibly damaging |
Het |
| Usp16 |
A |
G |
16: 87,276,204 (GRCm39) |
D513G |
probably damaging |
Het |
| Vip |
T |
C |
10: 5,594,992 (GRCm39) |
|
probably null |
Het |
| Vmn1r4 |
A |
G |
6: 56,934,023 (GRCm39) |
I176V |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,819,806 (GRCm39) |
T1050A |
probably damaging |
Het |
|
| Other mutations in Mylk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01384:Mylk
|
APN |
16 |
34,759,322 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01386:Mylk
|
APN |
16 |
34,791,610 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01684:Mylk
|
APN |
16 |
34,792,310 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01884:Mylk
|
APN |
16 |
34,809,247 (GRCm39) |
splice site |
probably benign |
|
|
IGL02079:Mylk
|
APN |
16 |
34,681,001 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02104:Mylk
|
APN |
16 |
34,635,805 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02624:Mylk
|
APN |
16 |
34,750,266 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02756:Mylk
|
APN |
16 |
34,784,016 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02794:Mylk
|
APN |
16 |
34,806,911 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02833:Mylk
|
APN |
16 |
34,735,270 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02946:Mylk
|
APN |
16 |
34,742,158 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03012:Mylk
|
APN |
16 |
34,773,151 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03093:Mylk
|
APN |
16 |
34,732,562 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL03272:Mylk
|
APN |
16 |
34,799,559 (GRCm39) |
missense |
probably benign |
0.09 |
|
billy
|
UTSW |
16 |
34,695,990 (GRCm39) |
missense |
probably damaging |
0.97 |
|
brutus
|
UTSW |
16 |
34,774,065 (GRCm39) |
missense |
probably benign |
0.12 |
|
Club
|
UTSW |
16 |
34,732,645 (GRCm39) |
nonsense |
probably null |
|
|
popeye
|
UTSW |
16 |
34,783,947 (GRCm39) |
missense |
probably benign |
0.29 |
|
F5770:Mylk
|
UTSW |
16 |
34,815,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
P4717OSA:Mylk
|
UTSW |
16 |
34,797,483 (GRCm39) |
splice site |
probably benign |
|
|
PIT4382001:Mylk
|
UTSW |
16 |
34,696,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0131:Mylk
|
UTSW |
16 |
34,695,874 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0309:Mylk
|
UTSW |
16 |
34,732,667 (GRCm39) |
splice site |
probably benign |
|
|
R0358:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0381:Mylk
|
UTSW |
16 |
34,605,344 (GRCm39) |
splice site |
probably null |
|
|
R0390:Mylk
|
UTSW |
16 |
34,695,990 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0413:Mylk
|
UTSW |
16 |
34,742,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0536:Mylk
|
UTSW |
16 |
34,820,757 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0544:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0545:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0546:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0547:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0548:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0627:Mylk
|
UTSW |
16 |
34,820,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0755:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0782:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0783:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0784:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1136:Mylk
|
UTSW |
16 |
34,820,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Mylk
|
UTSW |
16 |
34,694,409 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1222:Mylk
|
UTSW |
16 |
34,681,022 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1445:Mylk
|
UTSW |
16 |
34,635,835 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1583:Mylk
|
UTSW |
16 |
34,695,956 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1618:Mylk
|
UTSW |
16 |
34,699,845 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1643:Mylk
|
UTSW |
16 |
34,696,005 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1702:Mylk
|
UTSW |
16 |
34,742,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1865:Mylk
|
UTSW |
16 |
34,732,600 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1975:Mylk
|
UTSW |
16 |
34,700,673 (GRCm39) |
splice site |
probably null |
|
|
R2016:Mylk
|
UTSW |
16 |
34,817,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Mylk
|
UTSW |
16 |
34,774,023 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2134:Mylk
|
UTSW |
16 |
34,806,846 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3547:Mylk
|
UTSW |
16 |
34,700,538 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3844:Mylk
|
UTSW |
16 |
34,742,247 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4003:Mylk
|
UTSW |
16 |
34,783,947 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4396:Mylk
|
UTSW |
16 |
34,732,645 (GRCm39) |
nonsense |
probably null |
|
|
R4470:Mylk
|
UTSW |
16 |
34,732,522 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4507:Mylk
|
UTSW |
16 |
34,774,065 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4700:Mylk
|
UTSW |
16 |
34,742,805 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4751:Mylk
|
UTSW |
16 |
34,699,539 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4815:Mylk
|
UTSW |
16 |
34,715,295 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4832:Mylk
|
UTSW |
16 |
34,742,737 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4872:Mylk
|
UTSW |
16 |
34,735,360 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4953:Mylk
|
UTSW |
16 |
34,809,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Mylk
|
UTSW |
16 |
34,791,810 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5009:Mylk
|
UTSW |
16 |
34,719,877 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5130:Mylk
|
UTSW |
16 |
34,809,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Mylk
|
UTSW |
16 |
34,797,383 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5195:Mylk
|
UTSW |
16 |
34,799,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5209:Mylk
|
UTSW |
16 |
34,742,995 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5311:Mylk
|
UTSW |
16 |
34,742,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5418:Mylk
|
UTSW |
16 |
34,732,600 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5481:Mylk
|
UTSW |
16 |
34,741,974 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5590:Mylk
|
UTSW |
16 |
34,699,722 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5603:Mylk
|
UTSW |
16 |
34,776,862 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5823:Mylk
|
UTSW |
16 |
34,715,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6290:Mylk
|
UTSW |
16 |
34,715,213 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6351:Mylk
|
UTSW |
16 |
34,742,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6365:Mylk
|
UTSW |
16 |
34,680,961 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6490:Mylk
|
UTSW |
16 |
34,750,237 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6723:Mylk
|
UTSW |
16 |
34,750,258 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6864:Mylk
|
UTSW |
16 |
34,694,520 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6908:Mylk
|
UTSW |
16 |
34,700,643 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6949:Mylk
|
UTSW |
16 |
34,820,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7018:Mylk
|
UTSW |
16 |
34,820,796 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7035:Mylk
|
UTSW |
16 |
34,797,352 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7162:Mylk
|
UTSW |
16 |
34,742,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Mylk
|
UTSW |
16 |
34,742,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Mylk
|
UTSW |
16 |
34,605,381 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7475:Mylk
|
UTSW |
16 |
34,734,446 (GRCm39) |
splice site |
probably null |
|
|
R7525:Mylk
|
UTSW |
16 |
34,809,357 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7587:Mylk
|
UTSW |
16 |
34,742,887 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7607:Mylk
|
UTSW |
16 |
34,715,184 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7616:Mylk
|
UTSW |
16 |
34,699,927 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7647:Mylk
|
UTSW |
16 |
34,699,894 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7648:Mylk
|
UTSW |
16 |
34,699,894 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7764:Mylk
|
UTSW |
16 |
34,742,553 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7890:Mylk
|
UTSW |
16 |
34,784,018 (GRCm39) |
nonsense |
probably null |
|
|
R7892:Mylk
|
UTSW |
16 |
34,699,894 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7893:Mylk
|
UTSW |
16 |
34,699,894 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8065:Mylk
|
UTSW |
16 |
34,792,389 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8067:Mylk
|
UTSW |
16 |
34,792,389 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8143:Mylk
|
UTSW |
16 |
34,734,525 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8210:Mylk
|
UTSW |
16 |
34,820,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Mylk
|
UTSW |
16 |
34,742,949 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8540:Mylk
|
UTSW |
16 |
34,750,257 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8721:Mylk
|
UTSW |
16 |
34,817,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Mylk
|
UTSW |
16 |
34,741,427 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8798:Mylk
|
UTSW |
16 |
34,719,772 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8956:Mylk
|
UTSW |
16 |
34,791,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9131:Mylk
|
UTSW |
16 |
34,776,835 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9403:Mylk
|
UTSW |
16 |
34,696,012 (GRCm39) |
nonsense |
probably null |
|
|
R9624:Mylk
|
UTSW |
16 |
34,699,677 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9735:Mylk
|
UTSW |
16 |
34,735,179 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9756:Mylk
|
UTSW |
16 |
34,734,387 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9763:Mylk
|
UTSW |
16 |
34,699,482 (GRCm39) |
nonsense |
probably null |
|
|
RF001:Mylk
|
UTSW |
16 |
34,699,741 (GRCm39) |
missense |
probably benign |
0.03 |
|
V7580:Mylk
|
UTSW |
16 |
34,815,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
V7583:Mylk
|
UTSW |
16 |
34,815,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0065:Mylk
|
UTSW |
16 |
34,820,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mylk
|
UTSW |
16 |
34,743,021 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTCAGTAGGACTATGAGGGGCG -3'
(R):5'- GCCCAGAATGTGGAGCTTAGACAG -3'
Sequencing Primer
(F):5'- GAGTTTTGAGAACTTCTATCCCACTG -3'
(R):5'- CTTAGACAGGGCAAGGATCTGC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation