Incidental Mutation 'R0141:AW551984'
| ID |
22327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AW551984
|
| Ensembl Gene |
ENSMUSG00000038112 |
| Gene Name |
expressed sequence AW551984 |
| Synonyms |
|
| MMRRC Submission |
038426-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R0141 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39501940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 722
(L722P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
|
| AlphaFold |
Q8BGF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042485
AA Change: L722P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: L722P
| 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: L722P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: L722P
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147753
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.9%
|
| Validation Efficiency |
88% (50/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
C |
13: 91,919,947 (GRCm39) |
D294A |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,920,066 (GRCm39) |
D24G |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,044 (GRCm39) |
G1776D |
probably damaging |
Het |
| Arfgef3 |
C |
A |
10: 18,473,155 (GRCm39) |
C1636F |
probably damaging |
Het |
| Ccndbp1 |
T |
A |
2: 120,842,903 (GRCm39) |
M188K |
probably damaging |
Het |
| Col27a1 |
A |
T |
4: 63,183,870 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
A |
G |
7: 44,616,095 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,298,912 (GRCm39) |
I71V |
probably benign |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dmrt2 |
A |
T |
19: 25,655,655 (GRCm39) |
Q418L |
possibly damaging |
Het |
| Ebf1 |
T |
C |
11: 44,798,827 (GRCm39) |
L284S |
probably damaging |
Het |
| Fam131a |
G |
A |
16: 20,517,738 (GRCm39) |
A15T |
probably benign |
Het |
| Fbxo17 |
A |
G |
7: 28,432,916 (GRCm39) |
T146A |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,430,251 (GRCm39) |
E226G |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,198,238 (GRCm39) |
I174N |
probably damaging |
Het |
| Gm44501 |
T |
C |
17: 40,889,744 (GRCm39) |
I86T |
probably benign |
Het |
| Gtsf1l |
T |
C |
2: 162,929,246 (GRCm39) |
Q79R |
probably benign |
Het |
| Hapln4 |
T |
C |
8: 70,540,930 (GRCm39) |
L321P |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,771,309 (GRCm39) |
T1024A |
probably benign |
Het |
| Hps5 |
A |
G |
7: 46,438,605 (GRCm39) |
S43P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,238,253 (GRCm39) |
Y643H |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,968,274 (GRCm39) |
R1472H |
probably benign |
Het |
| Lhx9 |
A |
G |
1: 138,767,744 (GRCm39) |
Y73H |
possibly damaging |
Het |
| Loxl1 |
T |
A |
9: 58,219,415 (GRCm39) |
Q252L |
probably damaging |
Het |
| Lrrc37 |
A |
C |
11: 103,504,512 (GRCm39) |
I2485M |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,635,037 (GRCm39) |
V46D |
probably damaging |
Het |
| Or11h4 |
T |
C |
14: 50,973,840 (GRCm39) |
S260G |
possibly damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,835 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5i1 |
C |
G |
2: 87,613,049 (GRCm39) |
P55R |
possibly damaging |
Het |
| Or5p63 |
A |
C |
7: 107,811,210 (GRCm39) |
N175K |
possibly damaging |
Het |
| Or5p70 |
A |
T |
7: 107,994,575 (GRCm39) |
N83Y |
probably benign |
Het |
| Osbp |
T |
C |
19: 11,951,223 (GRCm39) |
V256A |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,841,936 (GRCm39) |
D4737V |
unknown |
Het |
| Pkdrej |
A |
G |
15: 85,699,831 (GRCm39) |
I2035T |
probably damaging |
Het |
| Plek2 |
A |
G |
12: 78,941,278 (GRCm39) |
S185P |
probably damaging |
Het |
| Pnpla6 |
G |
T |
8: 3,582,117 (GRCm39) |
|
probably null |
Het |
| Pou3f2 |
T |
C |
4: 22,487,210 (GRCm39) |
T308A |
possibly damaging |
Het |
| Pramel22 |
T |
C |
4: 143,381,138 (GRCm39) |
Y295C |
probably benign |
Het |
| Pxmp4 |
A |
G |
2: 154,434,215 (GRCm39) |
V82A |
probably damaging |
Het |
| Rnf6 |
A |
T |
5: 146,148,645 (GRCm39) |
N135K |
possibly damaging |
Het |
| Rtl1 |
A |
G |
12: 109,559,382 (GRCm39) |
V819A |
probably damaging |
Het |
| Scn1a |
C |
A |
2: 66,119,406 (GRCm39) |
V1355L |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,542,160 (GRCm39) |
N754K |
probably benign |
Het |
| Serpina3b |
A |
T |
12: 104,097,030 (GRCm39) |
N104Y |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,289,122 (GRCm39) |
S648P |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,318,815 (GRCm39) |
V486I |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,722,863 (GRCm39) |
N772K |
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,988,072 (GRCm39) |
D1743E |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,383,857 (GRCm39) |
|
probably null |
Het |
| Tfb1m |
T |
C |
17: 3,605,232 (GRCm39) |
D87G |
probably damaging |
Het |
| Tll2 |
C |
T |
19: 41,086,351 (GRCm39) |
G609S |
probably damaging |
Het |
| Tsc22d2 |
A |
T |
3: 58,324,577 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
A |
G |
6: 115,545,790 (GRCm39) |
D360G |
probably damaging |
Het |
| Ugt2b37 |
G |
A |
5: 87,388,842 (GRCm39) |
P457L |
probably damaging |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,252 (GRCm39) |
N282S |
possibly damaging |
Het |
| Vmn2r58 |
G |
A |
7: 41,511,309 (GRCm39) |
S498F |
probably benign |
Het |
| Zfp959 |
T |
C |
17: 56,205,139 (GRCm39) |
I392T |
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 |
|
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 |
|
R6791:AW551984
|
UTSW |
9 |
39,511,955 (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'- CGTTCCTGTCCTCTTTGAATGAGGC -3'
(R):5'- ACCTCCTCTAATGGGCTCTGGTATG -3'
Sequencing Primer
(F):5'- GAATGAGGCTGTTCCATTATACTCAC -3'
(R):5'- GGACATACCATCTTATTTGGCTCG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation