Incidental Mutation 'R7475:AW551984'
ID |
579425 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW551984
|
Ensembl Gene |
ENSMUSG00000038112 |
Gene Name |
expressed sequence AW551984 |
Synonyms |
|
MMRRC Submission |
045549-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R7475 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39509236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 302
(S302P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
AlphaFold |
Q8BGF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042485
AA Change: S302P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042582 Gene: ENSMUSG00000038112 AA Change: S302P
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: S302P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113212 Gene: ENSMUSG00000038112 AA Change: S302P
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130829
|
SMART Domains |
Protein: ENSMUSP00000117262 Gene: ENSMUSG00000038112
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
5 |
52 |
1.4e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141370
|
SMART Domains |
Protein: ENSMUSP00000117328 Gene: ENSMUSG00000038112
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
T |
16: 20,218,739 (GRCm39) |
N214K |
probably benign |
Het |
Abcf1 |
A |
G |
17: 36,274,459 (GRCm39) |
|
probably null |
Het |
Agxt2 |
A |
T |
15: 10,409,623 (GRCm39) |
M508L |
probably benign |
Het |
Akr1c21 |
A |
T |
13: 4,626,318 (GRCm39) |
Y114F |
probably benign |
Het |
Amz1 |
T |
C |
5: 140,729,941 (GRCm39) |
|
probably null |
Het |
Ank1 |
G |
T |
8: 23,622,646 (GRCm39) |
A1732S |
probably benign |
Het |
Atg16l1 |
T |
C |
1: 87,687,805 (GRCm39) |
S50P |
possibly damaging |
Het |
Ccn6 |
T |
A |
10: 39,034,296 (GRCm39) |
Y102F |
probably damaging |
Het |
Ces3a |
T |
A |
8: 105,780,322 (GRCm39) |
|
probably null |
Het |
Dedd |
C |
A |
1: 171,167,881 (GRCm39) |
P185Q |
probably benign |
Het |
Fam186a |
A |
T |
15: 99,845,395 (GRCm39) |
V283E |
unknown |
Het |
Fat2 |
C |
A |
11: 55,194,479 (GRCm39) |
V1187F |
probably benign |
Het |
Fbxw11 |
T |
C |
11: 32,661,999 (GRCm39) |
|
probably null |
Het |
Fcgbp |
C |
T |
7: 27,802,401 (GRCm39) |
T1443I |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,814,801 (GRCm39) |
D279G |
probably benign |
Het |
Gbp5 |
A |
G |
3: 142,207,122 (GRCm39) |
D97G |
probably damaging |
Het |
Gm49368 |
A |
T |
7: 127,707,154 (GRCm39) |
T661S |
possibly damaging |
Het |
Gria4 |
T |
G |
9: 4,513,330 (GRCm39) |
T260P |
probably damaging |
Het |
Gtf2ird2 |
T |
A |
5: 134,230,267 (GRCm39) |
D195E |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,496,196 (GRCm39) |
|
probably null |
Het |
Ifngr2 |
G |
A |
16: 91,354,797 (GRCm39) |
C32Y |
unknown |
Het |
Ikzf5 |
A |
T |
7: 130,993,788 (GRCm39) |
C280S |
probably benign |
Het |
Ints9 |
G |
T |
14: 65,263,914 (GRCm39) |
E395D |
probably null |
Het |
Isoc2b |
T |
C |
7: 4,854,084 (GRCm39) |
D96G |
probably benign |
Het |
Jmjd1c |
T |
G |
10: 67,061,092 (GRCm39) |
S967R |
probably benign |
Het |
Kcnj3 |
A |
T |
2: 55,327,338 (GRCm39) |
K42N |
probably benign |
Het |
Kiz |
T |
C |
2: 146,733,006 (GRCm39) |
V394A |
possibly damaging |
Het |
Knl1 |
A |
T |
2: 118,918,027 (GRCm39) |
H1795L |
probably damaging |
Het |
Lmntd2 |
A |
G |
7: 140,790,602 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
C |
A |
18: 77,500,001 (GRCm39) |
D1690E |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,234,588 (GRCm39) |
D1121G |
|
Het |
Map3k2 |
T |
C |
18: 32,333,015 (GRCm39) |
V63A |
possibly damaging |
Het |
Mcc |
G |
T |
18: 44,609,303 (GRCm39) |
A499D |
probably damaging |
Het |
Mcpt9 |
T |
A |
14: 56,264,400 (GRCm39) |
I232F |
probably damaging |
Het |
Meltf |
A |
G |
16: 31,700,756 (GRCm39) |
K92R |
probably benign |
Het |
Mff |
T |
A |
1: 82,723,159 (GRCm39) |
|
probably null |
Het |
Mrgpra3 |
T |
A |
7: 47,239,695 (GRCm39) |
Y77F |
probably damaging |
Het |
Mylk |
G |
A |
16: 34,734,446 (GRCm39) |
|
probably null |
Het |
Ndufv2 |
A |
G |
17: 66,394,532 (GRCm39) |
V111A |
possibly damaging |
Het |
Nkd2 |
T |
C |
13: 73,973,861 (GRCm39) |
E99G |
probably damaging |
Het |
Nlk |
C |
A |
11: 78,474,225 (GRCm39) |
G358V |
probably damaging |
Het |
Nnmt |
A |
T |
9: 48,503,532 (GRCm39) |
C165S |
probably damaging |
Het |
Nxpe4 |
T |
A |
9: 48,304,640 (GRCm39) |
C242* |
probably null |
Het |
Oas1b |
A |
T |
5: 120,955,705 (GRCm39) |
N162I |
probably damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,554 (GRCm39) |
I148V |
probably benign |
Het |
Otog |
A |
G |
7: 45,916,700 (GRCm39) |
N879S |
probably damaging |
Het |
Pcsk7 |
T |
A |
9: 45,838,923 (GRCm39) |
Y612N |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,368,581 (GRCm39) |
Q800* |
probably null |
Het |
Pkn3 |
T |
C |
2: 29,977,122 (GRCm39) |
S621P |
probably benign |
Het |
Polr3c |
T |
C |
3: 96,622,501 (GRCm39) |
I385V |
probably benign |
Het |
Ppp1r21 |
G |
T |
17: 88,863,031 (GRCm39) |
G257W |
probably benign |
Het |
Prkn |
A |
G |
17: 11,653,501 (GRCm39) |
D199G |
probably benign |
Het |
Pxylp1 |
C |
T |
9: 96,738,420 (GRCm39) |
|
probably null |
Het |
Rasgrp1 |
T |
C |
2: 117,116,589 (GRCm39) |
T613A |
probably benign |
Het |
Robo3 |
C |
T |
9: 37,336,674 (GRCm39) |
V387I |
probably benign |
Het |
Rxfp2 |
T |
A |
5: 149,973,046 (GRCm39) |
Y174N |
possibly damaging |
Het |
Sec24a |
T |
C |
11: 51,604,379 (GRCm39) |
M746V |
probably damaging |
Het |
Sema4f |
T |
A |
6: 82,891,355 (GRCm39) |
E571D |
possibly damaging |
Het |
Septin3 |
T |
C |
15: 82,170,657 (GRCm39) |
V217A |
probably benign |
Het |
Serpinb1b |
A |
C |
13: 33,277,548 (GRCm39) |
K260N |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,476,500 (GRCm39) |
T645A |
possibly damaging |
Het |
Sobp |
C |
T |
10: 42,897,830 (GRCm39) |
R585Q |
probably damaging |
Het |
Specc1l |
T |
A |
10: 75,082,281 (GRCm39) |
L559Q |
possibly damaging |
Het |
Srxn1 |
C |
T |
2: 151,947,573 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
A |
6: 48,432,794 (GRCm39) |
R890Q |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,518,591 (GRCm39) |
D505G |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,972,087 (GRCm39) |
I653K |
probably damaging |
Het |
Tnks |
C |
T |
8: 35,298,866 (GRCm39) |
E1296K |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,579,121 (GRCm39) |
I667N |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
Usp46 |
T |
A |
5: 74,189,598 (GRCm39) |
K109* |
probably null |
Het |
Vmn1r191 |
A |
G |
13: 22,362,942 (GRCm39) |
C271R |
probably benign |
Het |
Zfp592 |
T |
C |
7: 80,673,200 (GRCm39) |
S55P |
probably damaging |
Het |
Zmynd15 |
T |
C |
11: 70,351,867 (GRCm39) |
S158P |
probably benign |
Het |
Zscan22 |
T |
G |
7: 12,640,664 (GRCm39) |
C303G |
probably damaging |
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 |
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 |
|
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'- CACAACTGGTACAAGTGTGGAG -3'
(R):5'- AGGTTGGCCATGGACTCATTC -3'
Sequencing Primer
(F):5'- ACAAGTGTGGAGGATGTGGTC -3'
(R):5'- GCCTCCCAGAGTACTTTTAACTTGTG -3'
|
Posted On |
2019-10-07 |