Incidental Mutation 'R6791:AW551984'
ID |
532593 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW551984
|
Ensembl Gene |
ENSMUSG00000038112 |
Gene Name |
expressed sequence AW551984 |
Synonyms |
|
MMRRC Submission |
044904-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R6791 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 39511955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 19
(S19R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
AlphaFold |
Q8BGF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042485
AA Change: S19R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042582 Gene: ENSMUSG00000038112 AA Change: S19R
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119722
AA Change: S19R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113212 Gene: ENSMUSG00000038112 AA Change: S19R
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130829
AA Change: S19R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000117262 Gene: ENSMUSG00000038112 AA Change: S19R
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
5 |
52 |
1.4e-10 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141370
AA Change: S19R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117328 Gene: ENSMUSG00000038112 AA Change: S19R
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,328,504 (GRCm39) |
C3526S |
probably damaging |
Het |
Adgrf2 |
T |
C |
17: 43,021,774 (GRCm39) |
N350S |
probably benign |
Het |
Atp12a |
G |
A |
14: 56,624,439 (GRCm39) |
|
probably null |
Het |
Bet1l |
A |
G |
7: 140,434,418 (GRCm39) |
I77T |
possibly damaging |
Het |
Cfap206 |
T |
C |
4: 34,711,414 (GRCm39) |
I494M |
possibly damaging |
Het |
Cog3 |
A |
G |
14: 75,968,118 (GRCm39) |
I415T |
probably damaging |
Het |
Col15a1 |
C |
T |
4: 47,300,518 (GRCm39) |
P1060S |
probably damaging |
Het |
Ctrb1 |
A |
G |
8: 112,415,981 (GRCm39) |
V71A |
possibly damaging |
Het |
Ddhd2 |
T |
C |
8: 26,242,242 (GRCm39) |
Y211C |
probably benign |
Het |
Fbxl20 |
T |
C |
11: 98,000,336 (GRCm39) |
T128A |
probably benign |
Het |
Fdps |
A |
G |
3: 89,002,659 (GRCm39) |
|
probably null |
Het |
Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
T |
A |
19: 11,489,200 (GRCm39) |
|
probably benign |
Het |
Grm6 |
T |
C |
11: 50,750,601 (GRCm39) |
V588A |
possibly damaging |
Het |
Heatr6 |
T |
C |
11: 83,649,167 (GRCm39) |
L174S |
probably benign |
Het |
Kif1a |
G |
A |
1: 92,993,859 (GRCm39) |
P364S |
probably damaging |
Het |
Klk7 |
A |
G |
7: 43,462,684 (GRCm39) |
D163G |
probably benign |
Het |
Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
T |
C |
1: 193,017,169 (GRCm39) |
S787P |
possibly damaging |
Het |
Lrp5 |
C |
T |
19: 3,650,753 (GRCm39) |
C1227Y |
probably damaging |
Het |
Mgst1 |
G |
A |
6: 138,118,805 (GRCm39) |
|
probably benign |
Het |
Mllt6 |
T |
C |
11: 97,571,428 (GRCm39) |
S1022P |
probably damaging |
Het |
Mtmr2 |
T |
C |
9: 13,716,678 (GRCm39) |
I521T |
probably benign |
Het |
Naalad2 |
T |
C |
9: 18,296,426 (GRCm39) |
T75A |
possibly damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,372,845 (GRCm39) |
I83N |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Neurl4 |
T |
A |
11: 69,799,336 (GRCm39) |
L904Q |
probably damaging |
Het |
Ngp |
A |
C |
9: 110,249,017 (GRCm39) |
I30L |
probably benign |
Het |
Or5af1 |
T |
C |
11: 58,722,903 (GRCm39) |
Y308H |
probably benign |
Het |
Or6c5c |
G |
A |
10: 129,299,023 (GRCm39) |
M159I |
probably benign |
Het |
Orm2 |
A |
T |
4: 63,282,196 (GRCm39) |
M125L |
probably benign |
Het |
Pax2 |
A |
T |
19: 44,777,260 (GRCm39) |
D151V |
possibly damaging |
Het |
Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
Pramel11 |
T |
A |
4: 143,622,252 (GRCm39) |
I368F |
probably benign |
Het |
Prss16 |
A |
T |
13: 22,190,237 (GRCm39) |
V307E |
probably damaging |
Het |
Prss54 |
T |
G |
8: 96,291,283 (GRCm39) |
|
probably null |
Het |
Rspo1 |
A |
G |
4: 124,900,976 (GRCm39) |
H108R |
probably benign |
Het |
Sh3bp5l |
C |
A |
11: 58,237,098 (GRCm39) |
H352N |
probably damaging |
Het |
Skor1 |
T |
C |
9: 63,047,636 (GRCm39) |
|
probably null |
Het |
Smad6 |
A |
G |
9: 63,919,509 (GRCm39) |
Y289H |
probably benign |
Het |
Spart |
G |
A |
3: 55,034,982 (GRCm39) |
G456D |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,923,924 (GRCm39) |
E799G |
probably damaging |
Het |
Tbc1d4 |
T |
G |
14: 101,845,695 (GRCm39) |
K68Q |
probably damaging |
Het |
Treml2 |
A |
G |
17: 48,616,247 (GRCm39) |
M296V |
probably benign |
Het |
Ugt2b1 |
C |
A |
5: 87,067,116 (GRCm39) |
D436Y |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,325,042 (GRCm39) |
|
probably null |
Homo |
Vmn2r6 |
T |
C |
3: 64,445,580 (GRCm39) |
Y626C |
probably damaging |
Het |
Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
Zfp131 |
A |
G |
13: 120,228,129 (GRCm39) |
V506A |
probably damaging |
Het |
Zfp74 |
A |
G |
7: 29,633,860 (GRCm39) |
I616T |
probably benign |
Het |
|
Other mutations in AW551984 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00429:AW551984
|
APN |
9 |
39,504,145 (GRCm39) |
missense |
probably benign |
0.16 |
IGL00869:AW551984
|
APN |
9 |
39,504,730 (GRCm39) |
splice site |
probably benign |
|
IGL01411:AW551984
|
APN |
9 |
39,505,087 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01744:AW551984
|
APN |
9 |
39,502,568 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02102:AW551984
|
APN |
9 |
39,500,987 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02149:AW551984
|
APN |
9 |
39,504,220 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02151:AW551984
|
APN |
9 |
39,504,241 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02154:AW551984
|
APN |
9 |
39,500,398 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02158:AW551984
|
APN |
9 |
39,510,621 (GRCm39) |
missense |
probably null |
0.99 |
IGL02574:AW551984
|
APN |
9 |
39,500,382 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02754:AW551984
|
APN |
9 |
39,504,624 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02754:AW551984
|
APN |
9 |
39,507,922 (GRCm39) |
nonsense |
probably null |
|
IGL02838:AW551984
|
APN |
9 |
39,505,939 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03240:AW551984
|
APN |
9 |
39,500,418 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03328:AW551984
|
APN |
9 |
39,508,412 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03374:AW551984
|
APN |
9 |
39,511,062 (GRCm39) |
missense |
possibly damaging |
0.52 |
PIT4260001:AW551984
|
UTSW |
9 |
39,504,275 (GRCm39) |
missense |
probably benign |
0.08 |
R0141:AW551984
|
UTSW |
9 |
39,501,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R0269:AW551984
|
UTSW |
9 |
39,511,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R0365:AW551984
|
UTSW |
9 |
39,510,617 (GRCm39) |
missense |
probably benign |
0.14 |
R0453:AW551984
|
UTSW |
9 |
39,511,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R0481:AW551984
|
UTSW |
9 |
39,511,912 (GRCm39) |
missense |
probably null |
1.00 |
R1005:AW551984
|
UTSW |
9 |
39,505,029 (GRCm39) |
nonsense |
probably null |
|
R1585:AW551984
|
UTSW |
9 |
39,510,632 (GRCm39) |
nonsense |
probably null |
|
R2177:AW551984
|
UTSW |
9 |
39,511,111 (GRCm39) |
missense |
probably benign |
|
R3117:AW551984
|
UTSW |
9 |
39,504,656 (GRCm39) |
missense |
probably benign |
0.08 |
R3119:AW551984
|
UTSW |
9 |
39,504,656 (GRCm39) |
missense |
probably benign |
0.08 |
R3162:AW551984
|
UTSW |
9 |
39,504,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:AW551984
|
UTSW |
9 |
39,504,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R3836:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
R3837:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
R3839:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
R4299:AW551984
|
UTSW |
9 |
39,504,275 (GRCm39) |
missense |
probably benign |
0.08 |
R4422:AW551984
|
UTSW |
9 |
39,511,373 (GRCm39) |
missense |
probably null |
0.00 |
R4713:AW551984
|
UTSW |
9 |
39,508,449 (GRCm39) |
missense |
probably benign |
0.13 |
R4905:AW551984
|
UTSW |
9 |
39,508,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R4966:AW551984
|
UTSW |
9 |
39,508,472 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5022:AW551984
|
UTSW |
9 |
39,509,261 (GRCm39) |
missense |
probably benign |
0.00 |
R5041:AW551984
|
UTSW |
9 |
39,511,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R5342:AW551984
|
UTSW |
9 |
39,505,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R5383:AW551984
|
UTSW |
9 |
39,501,994 (GRCm39) |
missense |
probably benign |
|
R5443:AW551984
|
UTSW |
9 |
39,509,325 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5532:AW551984
|
UTSW |
9 |
39,508,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R5536:AW551984
|
UTSW |
9 |
39,504,169 (GRCm39) |
missense |
probably benign |
0.04 |
R5586:AW551984
|
UTSW |
9 |
39,502,559 (GRCm39) |
missense |
probably benign |
0.01 |
R5601:AW551984
|
UTSW |
9 |
39,502,563 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5618:AW551984
|
UTSW |
9 |
39,502,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R5701:AW551984
|
UTSW |
9 |
39,504,118 (GRCm39) |
missense |
probably benign |
0.01 |
R6122:AW551984
|
UTSW |
9 |
39,505,051 (GRCm39) |
missense |
probably benign |
0.00 |
R6142:AW551984
|
UTSW |
9 |
39,508,410 (GRCm39) |
missense |
probably benign |
0.00 |
R6272:AW551984
|
UTSW |
9 |
39,509,333 (GRCm39) |
missense |
probably benign |
0.06 |
R6429:AW551984
|
UTSW |
9 |
39,511,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R6659:AW551984
|
UTSW |
9 |
39,500,395 (GRCm39) |
missense |
probably benign |
0.00 |
R6670:AW551984
|
UTSW |
9 |
39,504,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:AW551984
|
UTSW |
9 |
39,512,085 (GRCm39) |
missense |
probably benign |
0.11 |
R7077:AW551984
|
UTSW |
9 |
39,502,723 (GRCm39) |
missense |
probably benign |
|
R7083:AW551984
|
UTSW |
9 |
39,508,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R7352:AW551984
|
UTSW |
9 |
39,504,221 (GRCm39) |
missense |
probably benign |
|
R7475:AW551984
|
UTSW |
9 |
39,509,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R7534:AW551984
|
UTSW |
9 |
39,502,777 (GRCm39) |
missense |
probably benign |
0.03 |
R7542:AW551984
|
UTSW |
9 |
39,505,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7708:AW551984
|
UTSW |
9 |
39,505,051 (GRCm39) |
missense |
probably benign |
0.00 |
R7729:AW551984
|
UTSW |
9 |
39,511,071 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7955:AW551984
|
UTSW |
9 |
39,507,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R8122:AW551984
|
UTSW |
9 |
39,510,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R8358:AW551984
|
UTSW |
9 |
39,510,651 (GRCm39) |
missense |
probably damaging |
0.99 |
R8402:AW551984
|
UTSW |
9 |
39,508,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:AW551984
|
UTSW |
9 |
39,511,005 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8810:AW551984
|
UTSW |
9 |
39,511,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R8857:AW551984
|
UTSW |
9 |
39,511,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R8871:AW551984
|
UTSW |
9 |
39,500,998 (GRCm39) |
nonsense |
probably null |
|
R9019:AW551984
|
UTSW |
9 |
39,508,973 (GRCm39) |
nonsense |
probably null |
|
Z1088:AW551984
|
UTSW |
9 |
39,501,899 (GRCm39) |
nonsense |
probably null |
|
ZE80:AW551984
|
UTSW |
9 |
39,504,963 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATCCCTCAGACCTGGTACTTG -3'
(R):5'- TGATGCATCTTTCCACAGAACC -3'
Sequencing Primer
(F):5'- CAGACCTGGTACTTGTCCTGAAG -3'
(R):5'- GAACCGCAGCTTCAACATGGTG -3'
|
Posted On |
2018-08-29 |