Incidental Mutation 'R0365:AW551984'
ID |
36353 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW551984
|
Ensembl Gene |
ENSMUSG00000038112 |
Gene Name |
expressed sequence AW551984 |
Synonyms |
|
MMRRC Submission |
038571-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R0365 (G1)
|
Quality Score |
223 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 39510617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 239
(S239R)
|
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: S239R
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000042582 Gene: ENSMUSG00000038112 AA Change: S239R
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: S239R
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113212 Gene: ENSMUSG00000038112 AA Change: S239R
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: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,892,088 (GRCm39) |
M173K |
probably benign |
Het |
Abcb1b |
T |
A |
5: 8,856,009 (GRCm39) |
F39Y |
probably damaging |
Het |
Acbd3 |
A |
G |
1: 180,566,177 (GRCm39) |
Y290C |
probably damaging |
Het |
Alg12 |
A |
C |
15: 88,700,352 (GRCm39) |
I28R |
possibly damaging |
Het |
Amer2 |
A |
T |
14: 60,616,984 (GRCm39) |
D393V |
probably damaging |
Het |
Anxa5 |
A |
T |
3: 36,511,618 (GRCm39) |
V153D |
probably damaging |
Het |
Arl5a |
T |
C |
2: 52,306,141 (GRCm39) |
M64V |
probably benign |
Het |
Astn1 |
T |
C |
1: 158,516,118 (GRCm39) |
L1236P |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,297,713 (GRCm39) |
S424P |
possibly damaging |
Het |
Baz1b |
T |
C |
5: 135,268,985 (GRCm39) |
V1278A |
probably benign |
Het |
Cbfa2t3 |
G |
T |
8: 123,361,799 (GRCm39) |
L408I |
probably benign |
Het |
Cdc27 |
A |
T |
11: 104,419,250 (GRCm39) |
N227K |
possibly damaging |
Het |
Cdh20 |
A |
T |
1: 110,036,486 (GRCm39) |
Q555H |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,215,094 (GRCm39) |
N1412I |
probably damaging |
Het |
Cdhr2 |
T |
C |
13: 54,866,105 (GRCm39) |
S302P |
probably benign |
Het |
Cep350 |
C |
A |
1: 155,782,317 (GRCm39) |
E1563D |
probably benign |
Het |
Cfap221 |
T |
A |
1: 119,912,753 (GRCm39) |
E107V |
probably benign |
Het |
Col6a3 |
C |
A |
1: 90,715,938 (GRCm39) |
R1641L |
unknown |
Het |
Coro6 |
A |
T |
11: 77,354,916 (GRCm39) |
I60F |
probably benign |
Het |
Dennd2b |
A |
T |
7: 109,138,156 (GRCm39) |
V753E |
probably damaging |
Het |
Dock10 |
G |
T |
1: 80,573,400 (GRCm39) |
N245K |
probably damaging |
Het |
Epb41l2 |
T |
A |
10: 25,345,119 (GRCm39) |
N286K |
probably damaging |
Het |
Fam83g |
G |
T |
11: 61,593,935 (GRCm39) |
E490* |
probably null |
Het |
Gnb1l |
T |
C |
16: 18,371,211 (GRCm39) |
I234T |
possibly damaging |
Het |
Gtf3a |
T |
A |
5: 146,885,747 (GRCm39) |
W53R |
probably damaging |
Het |
Ikzf4 |
T |
C |
10: 128,470,276 (GRCm39) |
I415V |
probably benign |
Het |
Il11ra1 |
T |
C |
4: 41,767,527 (GRCm39) |
V293A |
probably damaging |
Het |
Il17ra |
G |
A |
6: 120,455,410 (GRCm39) |
V340M |
probably benign |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Kif24 |
A |
T |
4: 41,428,731 (GRCm39) |
H76Q |
probably benign |
Het |
Klhl25 |
T |
C |
7: 75,516,264 (GRCm39) |
L390P |
probably damaging |
Het |
Klhl26 |
T |
C |
8: 70,904,479 (GRCm39) |
D443G |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,640,064 (GRCm39) |
R86S |
probably damaging |
Het |
Lrrc24 |
G |
A |
15: 76,599,984 (GRCm39) |
A385V |
probably benign |
Het |
Maea |
C |
T |
5: 33,517,787 (GRCm39) |
A109V |
probably benign |
Het |
Mtor |
A |
T |
4: 148,570,507 (GRCm39) |
Y1188F |
probably benign |
Het |
Nccrp1 |
T |
C |
7: 28,243,977 (GRCm39) |
D202G |
probably damaging |
Het |
Nsun4 |
A |
T |
4: 115,901,935 (GRCm39) |
L177Q |
probably damaging |
Het |
Nup155 |
C |
T |
15: 8,161,027 (GRCm39) |
R571W |
probably damaging |
Het |
Nup160 |
T |
A |
2: 90,539,188 (GRCm39) |
M789K |
probably benign |
Het |
Odad2 |
T |
A |
18: 7,217,800 (GRCm39) |
H638L |
probably benign |
Het |
Or5an1c |
A |
G |
19: 12,218,440 (GRCm39) |
F195S |
probably benign |
Het |
Or5p50 |
A |
T |
7: 107,422,124 (GRCm39) |
L184* |
probably null |
Het |
Or8d2b |
A |
T |
9: 38,788,481 (GRCm39) |
H3L |
probably benign |
Het |
Pgpep1 |
G |
T |
8: 71,105,174 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
C |
T |
8: 117,748,589 (GRCm39) |
V1861M |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
Plin4 |
G |
T |
17: 56,411,667 (GRCm39) |
T788K |
possibly damaging |
Het |
Ppp3r2 |
T |
C |
4: 49,681,902 (GRCm39) |
D16G |
possibly damaging |
Het |
Pramel22 |
G |
T |
4: 143,382,071 (GRCm39) |
Y208* |
probably null |
Het |
Prdm16 |
A |
T |
4: 154,426,513 (GRCm39) |
I424N |
probably damaging |
Het |
Psen2 |
T |
A |
1: 180,056,410 (GRCm39) |
I396F |
probably damaging |
Het |
Psip1 |
C |
T |
4: 83,403,949 (GRCm39) |
|
probably null |
Het |
Ptprd |
G |
A |
4: 76,055,083 (GRCm39) |
T215I |
probably damaging |
Het |
Rec114 |
A |
G |
9: 58,648,822 (GRCm39) |
S2P |
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,378,410 (GRCm39) |
I1181T |
probably damaging |
Het |
Rfx7 |
T |
C |
9: 72,527,118 (GRCm39) |
M1436T |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,316,937 (GRCm39) |
V1020E |
possibly damaging |
Het |
Rorc |
G |
A |
3: 94,296,069 (GRCm39) |
G83S |
probably damaging |
Het |
Ryr2 |
T |
G |
13: 11,683,725 (GRCm39) |
Q3113P |
possibly damaging |
Het |
Shank1 |
T |
C |
7: 44,003,401 (GRCm39) |
S1698P |
possibly damaging |
Het |
Slc2a2 |
T |
C |
3: 28,762,828 (GRCm39) |
|
probably null |
Het |
Slc5a9 |
A |
T |
4: 111,749,033 (GRCm39) |
Y98* |
probably null |
Het |
Smc6 |
T |
C |
12: 11,333,175 (GRCm39) |
|
probably null |
Het |
Sptb |
G |
T |
12: 76,647,157 (GRCm39) |
F1959L |
probably benign |
Het |
Srgap1 |
T |
A |
10: 121,621,610 (GRCm39) |
H984L |
possibly damaging |
Het |
Ssc5d |
T |
A |
7: 4,931,466 (GRCm39) |
C224* |
probably null |
Het |
Ston2 |
A |
T |
12: 91,614,634 (GRCm39) |
H591Q |
probably benign |
Het |
Tbx3 |
C |
T |
5: 119,813,315 (GRCm39) |
A222V |
possibly damaging |
Het |
Thsd7a |
A |
G |
6: 12,321,886 (GRCm39) |
|
probably null |
Het |
Usp9y |
T |
C |
Y: 1,364,732 (GRCm39) |
D1027G |
probably damaging |
Het |
Wnt5a |
C |
T |
14: 28,240,461 (GRCm39) |
R184* |
probably null |
Het |
Zfpm2 |
A |
G |
15: 40,637,462 (GRCm39) |
E74G |
possibly damaging |
Het |
Zwint |
C |
A |
10: 72,493,127 (GRCm39) |
S223* |
probably null |
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 |
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'- TGGTTAGAGAAGTGTGAGGACCTTCAG -3'
(R):5'- GTGCAAGAGTTCCCAGTCCTTTAGTG -3'
Sequencing Primer
(F):5'- GTGAGGACCTTCAGTATTTCAGAC -3'
(R):5'- ATTGAACTCGTGGTCCTCATC -3'
|
Posted On |
2013-05-09 |