Incidental Mutation 'R6272:AW551984'
| ID |
507402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AW551984
|
| Ensembl Gene |
ENSMUSG00000038112 |
| Gene Name |
expressed sequence AW551984 |
| Synonyms |
|
| MMRRC Submission |
044442-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R6272 (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 T
at 39509333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 269
(D269E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
| AlphaFold |
Q8BGF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042485
AA Change: D269E
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: D269E
| 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: ENSMUST00000119722
AA Change: D269E
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: D269E
| 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 |
noncoding transcript
Transcript: ENSMUST00000136814
|
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
T |
5: 50,166,791 (GRCm39) |
M187K |
possibly damaging |
Het |
| Adgrg3 |
A |
G |
8: 95,762,889 (GRCm39) |
I189V |
noncoding transcript |
Het |
| Ampd1 |
A |
G |
3: 102,992,699 (GRCm39) |
K147R |
possibly damaging |
Het |
| Apbb2 |
T |
C |
5: 66,468,415 (GRCm39) |
T561A |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,522,711 (GRCm39) |
D438E |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,721,238 (GRCm39) |
Q219L |
possibly damaging |
Het |
| Cryab |
A |
G |
9: 50,665,825 (GRCm39) |
K72R |
possibly damaging |
Het |
| Dbn1 |
G |
A |
13: 55,622,917 (GRCm39) |
A522V |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,122,241 (GRCm39) |
*158R |
probably null |
Het |
| Edrf1 |
C |
T |
7: 133,239,537 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
A |
T |
7: 121,775,869 (GRCm39) |
D408E |
probably benign |
Het |
| F830016B08Rik |
T |
C |
18: 60,433,150 (GRCm39) |
S78P |
probably damaging |
Het |
| Fah |
C |
A |
7: 84,244,753 (GRCm39) |
G137C |
probably damaging |
Het |
| Foxd3 |
A |
G |
4: 99,544,977 (GRCm39) |
D39G |
probably damaging |
Het |
| Gprin3 |
G |
A |
6: 59,330,316 (GRCm39) |
Q664* |
probably null |
Het |
| H2-Ob |
T |
C |
17: 34,461,618 (GRCm39) |
I119T |
probably benign |
Het |
| H3c6 |
A |
T |
13: 23,746,400 (GRCm39) |
V47E |
probably damaging |
Het |
| Hmgcll1 |
G |
A |
9: 76,037,627 (GRCm39) |
G174R |
probably damaging |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,118 (GRCm39) |
C572* |
probably null |
Het |
| Kynu |
A |
T |
2: 43,525,001 (GRCm39) |
N315Y |
probably benign |
Het |
| Map1lc3b |
G |
A |
8: 122,323,429 (GRCm39) |
E100K |
probably benign |
Het |
| Matn2 |
T |
A |
15: 34,355,753 (GRCm39) |
Q33L |
possibly damaging |
Het |
| Mettl8 |
T |
C |
2: 70,806,419 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
T |
18: 86,512,940 (GRCm39) |
N312Y |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,400,253 (GRCm39) |
D493G |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,077,331 (GRCm39) |
E889G |
possibly damaging |
Het |
| Or13l2 |
A |
G |
3: 97,318,207 (GRCm39) |
F97L |
probably benign |
Het |
| Or14c42-ps1 |
A |
G |
7: 86,211,081 (GRCm39) |
Y47C |
unknown |
Het |
| Or2y13 |
C |
A |
11: 49,414,953 (GRCm39) |
S134R |
possibly damaging |
Het |
| Or5ac25 |
A |
C |
16: 59,181,948 (GRCm39) |
M211R |
possibly damaging |
Het |
| Or5w20 |
G |
A |
2: 87,727,001 (GRCm39) |
V153I |
probably benign |
Het |
| Or6k2 |
C |
T |
1: 173,986,741 (GRCm39) |
T134I |
probably benign |
Het |
| Or8g4 |
A |
T |
9: 39,661,816 (GRCm39) |
M45L |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,603,440 (GRCm39) |
Y190C |
probably damaging |
Het |
| Platr25 |
T |
C |
13: 62,820,811 (GRCm39) |
T347A |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,059,053 (GRCm39) |
E3655G |
probably damaging |
Het |
| Plekhg3 |
A |
T |
12: 76,623,619 (GRCm39) |
Q954L |
probably benign |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Prdm4 |
G |
A |
10: 85,743,694 (GRCm39) |
T187I |
possibly damaging |
Het |
| Prg4 |
T |
C |
1: 150,330,517 (GRCm39) |
|
probably benign |
Het |
| Prpf18 |
G |
A |
2: 4,638,258 (GRCm39) |
R312W |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,305,374 (GRCm39) |
V535D |
probably damaging |
Het |
| Rtcb |
A |
T |
10: 85,791,638 (GRCm39) |
N39K |
probably damaging |
Het |
| Slc4a3 |
G |
A |
1: 75,531,341 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
C |
4: 118,231,487 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tfap2e |
A |
T |
4: 126,615,657 (GRCm39) |
V259D |
probably damaging |
Het |
| Trav19 |
A |
G |
14: 54,083,255 (GRCm39) |
D110G |
probably damaging |
Het |
| Ttc17 |
A |
C |
2: 94,189,100 (GRCm39) |
C749W |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,948,753 (GRCm39) |
K490E |
possibly damaging |
Het |
| Ube4b |
A |
G |
4: 149,471,590 (GRCm39) |
S99P |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,791,385 (GRCm39) |
R235H |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,949,242 (GRCm39) |
D554V |
probably damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,194 (GRCm39) |
V761E |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,861 (GRCm39) |
I705T |
possibly damaging |
Het |
| Wwox |
G |
A |
8: 115,215,692 (GRCm39) |
C155Y |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,842,325 (GRCm39) |
|
probably benign |
Het |
| Zfp582 |
C |
T |
7: 6,356,844 (GRCm39) |
P219L |
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 |
|
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'- TGTACTCTAAGGAAACCCCAAG -3'
(R):5'- GGTTGGCCATGGACTCATTC -3'
Sequencing Primer
(F):5'- TCTCCAACAGAGCTGAACTG -3'
(R):5'- ATGGACTCATTCTGCCTCCCAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation