Incidental Mutation 'R6142:AW551984'
ID |
488629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW551984
|
Ensembl Gene |
ENSMUSG00000038112 |
Gene Name |
expressed sequence AW551984 |
Synonyms |
|
MMRRC Submission |
044289-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6142 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 39508410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 369
(L369I)
|
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: L369I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000042582 Gene: ENSMUSG00000038112 AA Change: L369I
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: L369I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113212 Gene: ENSMUSG00000038112 AA Change: L369I
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128054
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.2%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
T |
C |
15: 98,496,303 (GRCm39) |
M579V |
probably benign |
Het |
Agtr1b |
T |
C |
3: 20,370,558 (GRCm39) |
D16G |
probably benign |
Het |
Akap12 |
C |
A |
10: 4,263,740 (GRCm39) |
|
probably null |
Het |
Alpk2 |
T |
C |
18: 65,438,456 (GRCm39) |
E979G |
possibly damaging |
Het |
Arfgap3 |
T |
C |
15: 83,234,328 (GRCm39) |
D8G |
probably damaging |
Het |
Bmp8b |
A |
T |
4: 123,009,043 (GRCm39) |
H207L |
probably benign |
Het |
Cc2d2a |
G |
T |
5: 43,860,540 (GRCm39) |
V490F |
probably damaging |
Het |
Cnot6l |
C |
T |
5: 96,230,837 (GRCm39) |
V377I |
probably benign |
Het |
Col25a1 |
T |
A |
3: 130,376,978 (GRCm39) |
|
probably benign |
Het |
Crocc2 |
C |
G |
1: 93,118,201 (GRCm39) |
Q375E |
possibly damaging |
Het |
Ganc |
T |
C |
2: 120,261,218 (GRCm39) |
|
probably null |
Het |
Gm28168 |
C |
A |
1: 117,875,678 (GRCm39) |
D102E |
probably benign |
Het |
Gm8212 |
T |
C |
14: 44,438,684 (GRCm39) |
|
probably null |
Het |
Gria2 |
T |
C |
3: 80,709,024 (GRCm39) |
T53A |
probably benign |
Het |
Hipk4 |
G |
A |
7: 27,228,590 (GRCm39) |
V347M |
probably damaging |
Het |
Hmgxb3 |
T |
C |
18: 61,269,309 (GRCm39) |
E991G |
probably benign |
Het |
Hyal1 |
G |
A |
9: 107,456,573 (GRCm39) |
R420H |
probably benign |
Het |
Il5 |
G |
A |
11: 53,611,805 (GRCm39) |
|
probably null |
Het |
Kcnh7 |
T |
C |
2: 62,569,704 (GRCm39) |
I731V |
possibly damaging |
Het |
Lamb2 |
A |
T |
9: 108,362,817 (GRCm39) |
K759* |
probably null |
Het |
Lnpep |
A |
G |
17: 17,786,943 (GRCm39) |
|
probably null |
Het |
Lrch1 |
T |
C |
14: 75,184,940 (GRCm39) |
E54G |
probably damaging |
Het |
Msl3l2 |
A |
G |
10: 55,991,461 (GRCm39) |
D62G |
possibly damaging |
Het |
Mslnl |
T |
C |
17: 25,963,531 (GRCm39) |
L339P |
probably damaging |
Het |
Nfe2l2 |
T |
C |
2: 75,509,761 (GRCm39) |
I20V |
probably damaging |
Het |
Pgm5 |
A |
C |
19: 24,801,772 (GRCm39) |
I152S |
probably damaging |
Het |
Plcg2 |
C |
A |
8: 118,312,010 (GRCm39) |
T434K |
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,537,956 (GRCm39) |
E558G |
unknown |
Het |
Ranbp3 |
T |
C |
17: 56,993,018 (GRCm39) |
V12A |
probably benign |
Het |
Rgsl1 |
A |
G |
1: 153,687,984 (GRCm39) |
V635A |
probably benign |
Het |
Rpap2 |
T |
C |
5: 107,746,164 (GRCm39) |
V14A |
probably benign |
Het |
Rxrg |
G |
T |
1: 167,460,191 (GRCm39) |
A341S |
possibly damaging |
Het |
Sbf2 |
A |
G |
7: 109,948,182 (GRCm39) |
S1177P |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,414,266 (GRCm39) |
T498A |
probably benign |
Het |
Slc13a4 |
G |
A |
6: 35,278,718 (GRCm39) |
A57V |
probably damaging |
Het |
Slc6a3 |
A |
T |
13: 73,692,902 (GRCm39) |
D174V |
probably benign |
Het |
Spart |
T |
G |
3: 55,024,669 (GRCm39) |
V88G |
probably damaging |
Het |
Tanc1 |
A |
T |
2: 59,663,566 (GRCm39) |
R1108* |
probably null |
Het |
Tas2r140 |
C |
T |
6: 133,032,698 (GRCm39) |
G20E |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,940,373 (GRCm39) |
V225A |
probably benign |
Het |
Tmem168 |
C |
A |
6: 13,591,368 (GRCm39) |
A99S |
probably benign |
Het |
Tnk2 |
T |
A |
16: 32,488,917 (GRCm39) |
D252E |
probably damaging |
Het |
Tpsg1 |
A |
T |
17: 25,591,460 (GRCm39) |
H20L |
probably benign |
Het |
Tram1l1 |
T |
C |
3: 124,115,092 (GRCm39) |
F84S |
probably damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,240,763 (GRCm39) |
I117L |
probably benign |
Het |
Zfp148 |
T |
C |
16: 33,315,829 (GRCm39) |
L219S |
possibly damaging |
Het |
Zfp40 |
C |
A |
17: 23,395,311 (GRCm39) |
E425D |
probably benign |
Het |
Zfp773 |
T |
C |
7: 7,135,481 (GRCm39) |
T372A |
probably benign |
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 |
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'- CTCCTATATAGCAGAAGCCTGGAG -3'
(R):5'- GGGTAGGTGTAAAGCTGACC -3'
Sequencing Primer
(F):5'- AGCCTGGAGTACATACAGTGTTTCC -3'
(R):5'- TGTAAAGCTGACCTGAACTTGG -3'
|
Posted On |
2017-10-10 |