Incidental Mutation 'R7083:AW551984'
ID |
549689 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW551984
|
Ensembl Gene |
ENSMUSG00000038112 |
Gene Name |
expressed sequence AW551984 |
Synonyms |
|
MMRRC Submission |
045177-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R7083 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39508943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 327
(N327S)
|
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: N327S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042582 Gene: ENSMUSG00000038112 AA Change: N327S
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: N327S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113212 Gene: ENSMUSG00000038112 AA Change: N327S
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: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
A |
T |
12: 81,607,015 (GRCm39) |
M249K |
possibly damaging |
Het |
Arhgef38 |
T |
A |
3: 132,838,197 (GRCm39) |
Q613L |
unknown |
Het |
Arpp21 |
A |
G |
9: 112,012,612 (GRCm39) |
V70A |
probably benign |
Het |
Bnc1 |
T |
C |
7: 81,623,058 (GRCm39) |
K723R |
probably damaging |
Het |
Btbd7 |
A |
G |
12: 102,754,594 (GRCm39) |
L724P |
probably damaging |
Het |
Btnl10 |
G |
T |
11: 58,809,963 (GRCm39) |
V35F |
probably damaging |
Het |
Cd22 |
T |
A |
7: 30,567,473 (GRCm39) |
T704S |
probably damaging |
Het |
Cd4 |
T |
G |
6: 124,847,535 (GRCm39) |
S210R |
probably benign |
Het |
Cped1 |
A |
G |
6: 22,123,579 (GRCm39) |
Q444R |
probably benign |
Het |
Dusp26 |
A |
G |
8: 31,581,747 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
C |
T |
6: 5,969,429 (GRCm39) |
A418V |
probably damaging |
Het |
Fibp |
A |
G |
19: 5,513,659 (GRCm39) |
D232G |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,444,914 (GRCm39) |
T2406S |
probably damaging |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gpr39 |
T |
A |
1: 125,605,155 (GRCm39) |
W28R |
probably damaging |
Het |
Greb1 |
A |
G |
12: 16,773,315 (GRCm39) |
V253A |
probably benign |
Het |
Hexim1 |
T |
G |
11: 103,007,992 (GRCm39) |
L82W |
possibly damaging |
Het |
Hmga1 |
G |
T |
17: 27,779,945 (GRCm39) |
R49L |
possibly damaging |
Het |
Irag2 |
A |
T |
6: 145,115,509 (GRCm39) |
N349I |
probably damaging |
Het |
Itch |
A |
T |
2: 155,052,364 (GRCm39) |
N655Y |
probably damaging |
Het |
Izumo2 |
A |
G |
7: 44,359,757 (GRCm39) |
E129G |
probably damaging |
Het |
Klk1b24 |
G |
A |
7: 43,841,225 (GRCm39) |
C186Y |
probably damaging |
Het |
Lnx1 |
G |
A |
5: 74,788,846 (GRCm39) |
S31F |
possibly damaging |
Het |
Lrrc37a |
T |
C |
11: 103,394,166 (GRCm39) |
I420V |
probably benign |
Het |
Ltk |
A |
C |
2: 119,582,555 (GRCm39) |
C776G |
probably damaging |
Het |
Mast4 |
A |
C |
13: 102,874,223 (GRCm39) |
L1715R |
probably damaging |
Het |
Med28 |
T |
C |
5: 45,680,878 (GRCm39) |
|
probably null |
Het |
Naf1 |
GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
8: 67,313,138 (GRCm39) |
|
probably benign |
Het |
Nckap1l |
C |
A |
15: 103,390,551 (GRCm39) |
T774K |
probably damaging |
Het |
Nfkbiz |
T |
C |
16: 55,638,663 (GRCm39) |
K266E |
possibly damaging |
Het |
Ntrk3 |
T |
A |
7: 77,900,587 (GRCm39) |
D584V |
probably damaging |
Het |
Or1o1 |
T |
C |
17: 37,717,063 (GRCm39) |
V208A |
probably benign |
Het |
Or2h15 |
T |
A |
17: 38,441,601 (GRCm39) |
T161S |
probably benign |
Het |
Or4c126 |
A |
G |
2: 89,824,201 (GRCm39) |
I155V |
probably benign |
Het |
Or4n4b |
G |
A |
14: 50,536,736 (GRCm39) |
T10I |
possibly damaging |
Het |
Or5h25 |
T |
C |
16: 58,930,400 (GRCm39) |
D191G |
probably damaging |
Het |
Picalm |
T |
A |
7: 89,825,976 (GRCm39) |
I376K |
probably benign |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Prps1l3 |
A |
T |
12: 57,286,034 (GRCm39) |
I275L |
probably benign |
Het |
Psg26 |
G |
A |
7: 18,213,934 (GRCm39) |
R243* |
probably null |
Het |
Ranbp2 |
A |
G |
10: 58,315,052 (GRCm39) |
H1924R |
probably damaging |
Het |
Rasef |
T |
C |
4: 73,709,221 (GRCm39) |
D4G |
probably benign |
Het |
Rttn |
T |
C |
18: 89,108,722 (GRCm39) |
L1642P |
probably damaging |
Het |
Shroom3 |
T |
C |
5: 93,112,384 (GRCm39) |
L1915P |
probably damaging |
Het |
Slc26a10 |
A |
G |
10: 127,013,037 (GRCm39) |
V319A |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,064,839 (GRCm39) |
N231S |
probably benign |
Het |
Sox18 |
T |
C |
2: 181,312,165 (GRCm39) |
Q322R |
possibly damaging |
Het |
Sting1 |
T |
C |
18: 35,867,703 (GRCm39) |
H331R |
probably damaging |
Het |
Syde1 |
G |
T |
10: 78,422,903 (GRCm39) |
P490T |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,990,662 (GRCm39) |
I1881M |
probably damaging |
Het |
Taf1c |
T |
C |
8: 120,327,407 (GRCm39) |
D387G |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,544,556 (GRCm39) |
Y2228N |
probably damaging |
Het |
Tubgcp5 |
C |
T |
7: 55,450,443 (GRCm39) |
Q185* |
probably null |
Het |
Vmn2r44 |
T |
A |
7: 8,381,369 (GRCm39) |
I175F |
probably benign |
Het |
Zdhhc7 |
C |
A |
8: 120,812,166 (GRCm39) |
C152F |
probably damaging |
Het |
Zfp52 |
T |
A |
17: 21,780,392 (GRCm39) |
M80K |
possibly damaging |
Het |
Zfp612 |
T |
C |
8: 110,815,768 (GRCm39) |
I325T |
probably damaging |
Het |
Zmiz1 |
T |
G |
14: 25,652,372 (GRCm39) |
F597V |
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 |
|
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'- GGTCAGCTTTACACCTACCC -3'
(R):5'- GGGTTTCCTTAGAGTACAAGATGG -3'
Sequencing Primer
(F):5'- TGTGTGATAGCTACCTGTGAAAG -3'
(R):5'- TGGAATAAAGTAGTGTGACAGACCAC -3'
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Posted On |
2019-05-15 |