Incidental Mutation 'R8857:AW551984'
| ID |
675417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AW551984
|
| Ensembl Gene |
ENSMUSG00000038112 |
| Gene Name |
expressed sequence AW551984 |
| Synonyms |
|
| MMRRC Submission |
068677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8857 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 39511831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 60
(A60G)
|
| 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: A60G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: A60G
| 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: A60G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: A60G
| 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 damaging
Transcript: ENSMUST00000141370
AA Change: A60G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112
AA Change: A60G
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
A |
19: 57,119,287 (GRCm39) |
L266F |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,402,065 (GRCm39) |
C654* |
probably null |
Het |
| Adgrl1 |
C |
A |
8: 84,657,657 (GRCm39) |
A421D |
probably benign |
Het |
| Adra1b |
C |
G |
11: 43,727,092 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,399,939 (GRCm39) |
V710E |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,264,558 (GRCm39) |
V1523A |
probably damaging |
Het |
| Bdh1 |
A |
T |
16: 31,265,450 (GRCm39) |
T42S |
probably benign |
Het |
| C130073F10Rik |
G |
A |
4: 101,747,555 (GRCm39) |
P158L |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,248,909 (GRCm39) |
K457* |
probably null |
Het |
| Chd3 |
G |
A |
11: 69,253,146 (GRCm39) |
P223L |
probably benign |
Het |
| Cnst |
T |
C |
1: 179,437,878 (GRCm39) |
S481P |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,703,485 (GRCm39) |
K3027N |
unknown |
Het |
| Csf2rb2 |
T |
C |
15: 78,178,613 (GRCm39) |
D111G |
probably null |
Het |
| Disc1 |
A |
C |
8: 125,891,870 (GRCm39) |
E641A |
probably damaging |
Het |
| Fbln5 |
C |
A |
12: 101,726,990 (GRCm39) |
C320F |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,286,933 (GRCm39) |
T242I |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,922,280 (GRCm39) |
|
probably benign |
Het |
| Gpsm1 |
G |
C |
2: 26,230,457 (GRCm39) |
G469A |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,056,228 (GRCm39) |
I887T |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,159,825 (GRCm39) |
V692A |
probably damaging |
Het |
| Hsd17b13 |
A |
G |
5: 104,125,063 (GRCm39) |
L40P |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,298,587 (GRCm39) |
|
probably null |
Het |
| Irf2bpl |
T |
C |
12: 86,929,359 (GRCm39) |
Y438C |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,871,853 (GRCm39) |
N219I |
probably benign |
Het |
| Knop1 |
T |
C |
7: 118,451,949 (GRCm39) |
K257E |
|
Het |
| Krtap19-5 |
A |
T |
16: 88,693,139 (GRCm39) |
F58I |
unknown |
Het |
| L3mbtl2 |
T |
A |
15: 81,571,320 (GRCm39) |
F709L |
unknown |
Het |
| Map1a |
G |
A |
2: 121,138,098 (GRCm39) |
R2924H |
probably damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,356,567 (GRCm39) |
D224G |
probably benign |
Het |
| Mme |
A |
T |
3: 63,256,070 (GRCm39) |
N510I |
probably damaging |
Het |
| Morc2a |
T |
A |
11: 3,627,484 (GRCm39) |
|
probably null |
Het |
| Mptx2 |
T |
C |
1: 173,102,452 (GRCm39) |
E79G |
probably benign |
Het |
| Nutm1 |
A |
G |
2: 112,081,523 (GRCm39) |
M380T |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,041 (GRCm39) |
I180N |
probably damaging |
Het |
| P2rx1 |
A |
G |
11: 72,903,197 (GRCm39) |
|
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,501,472 (GRCm39) |
I7T |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,513,781 (GRCm39) |
S1013P |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,521,556 (GRCm39) |
V1469A |
unknown |
Het |
| Polr1g |
C |
T |
7: 19,093,355 (GRCm39) |
|
probably benign |
Het |
| Prkab1 |
T |
C |
5: 116,158,147 (GRCm39) |
N150D |
probably damaging |
Het |
| Qsox1 |
A |
G |
1: 155,658,333 (GRCm39) |
V412A |
possibly damaging |
Het |
| Rai1 |
A |
G |
11: 60,077,393 (GRCm39) |
S486G |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,670,965 (GRCm39) |
Y170* |
probably null |
Het |
| Rims2 |
T |
A |
15: 39,543,044 (GRCm39) |
M1426K |
possibly damaging |
Het |
| Selenoi |
C |
A |
5: 30,461,160 (GRCm39) |
S132* |
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,978,800 (GRCm39) |
I498M |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,483,523 (GRCm39) |
M970T |
probably benign |
Het |
| Slc17a8 |
A |
G |
10: 89,427,022 (GRCm39) |
F360L |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,393,305 (GRCm39) |
Y113H |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,675,938 (GRCm39) |
M327K |
possibly damaging |
Het |
| Sphkap |
T |
A |
1: 83,258,288 (GRCm39) |
I152F |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tiam1 |
A |
T |
16: 89,662,145 (GRCm39) |
S658T |
probably damaging |
Het |
| Tmem174 |
G |
T |
13: 98,773,433 (GRCm39) |
H132Q |
probably damaging |
Het |
| Tnfrsf10b |
G |
A |
14: 70,012,543 (GRCm39) |
V117I |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,713,728 (GRCm39) |
T719A |
probably benign |
Het |
| Tomm34 |
G |
A |
2: 163,896,379 (GRCm39) |
P292S |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
A |
14: 53,797,615 (GRCm39) |
F88Y |
probably damaging |
Het |
| Trp63 |
A |
T |
16: 25,639,226 (GRCm39) |
H138L |
probably damaging |
Het |
| U2af2 |
T |
A |
7: 5,065,290 (GRCm39) |
S2T |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,334,510 (GRCm39) |
V574A |
possibly damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfp488 |
A |
C |
14: 33,692,760 (GRCm39) |
S134R |
probably benign |
Het |
| Zfp950 |
T |
C |
19: 61,116,001 (GRCm39) |
D2G |
probably benign |
Het |
| Zfyve1 |
T |
A |
12: 83,598,374 (GRCm39) |
H618L |
probably damaging |
Het |
| Zp1 |
T |
G |
19: 10,893,888 (GRCm39) |
D439A |
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 |
|
|
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 |
|
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'- TGGATGACAAATTATCTGCACCC -3'
(R):5'- GGGTGTGACTCTAGCACATC -3'
Sequencing Primer
(F):5'- TCTGCACCCCCAAATAATTTTAGG -3'
(R):5'- GTGACTCTAGCACATCTTGTTGAAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation