Incidental Mutation 'R8158:Irs1'
ID |
633340 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irs1
|
Ensembl Gene |
ENSMUSG00000055980 |
Gene Name |
insulin receptor substrate 1 |
Synonyms |
G972R, IRS-1 |
MMRRC Submission |
067584-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.620)
|
Stock # |
R8158 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82267254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 321
(V321M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069799]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069799
AA Change: V321M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063795 Gene: ENSMUSG00000055980 AA Change: V321M
Domain | Start | End | E-Value | Type |
PH
|
13 |
117 |
8.13e-14 |
SMART |
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
IRS
|
155 |
257 |
1.19e-35 |
SMART |
PTBI
|
155 |
257 |
7.8e-60 |
SMART |
low complexity region
|
263 |
276 |
N/A |
INTRINSIC |
low complexity region
|
378 |
399 |
N/A |
INTRINSIC |
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
low complexity region
|
551 |
568 |
N/A |
INTRINSIC |
low complexity region
|
662 |
689 |
N/A |
INTRINSIC |
low complexity region
|
784 |
794 |
N/A |
INTRINSIC |
low complexity region
|
801 |
810 |
N/A |
INTRINSIC |
low complexity region
|
824 |
837 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1040 |
N/A |
INTRINSIC |
low complexity region
|
1051 |
1062 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1185 |
1200 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009] PHENOTYPE: Homozygotes for targeted null mutations exhibit 50 percent reductions in body weights at birth and at 4 months of age, impaired glucose tolerance, and mild insulin and IGF-1 resistance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
T |
A |
1: 156,469,639 (GRCm39) |
S968T |
probably benign |
Het |
Adcy8 |
T |
C |
15: 64,655,655 (GRCm39) |
D608G |
probably benign |
Het |
Adgb |
C |
T |
10: 10,254,478 (GRCm39) |
V1162M |
probably benign |
Het |
Agrn |
A |
G |
4: 156,258,346 (GRCm39) |
V1040A |
probably benign |
Het |
Amer3 |
A |
T |
1: 34,626,741 (GRCm39) |
T327S |
possibly damaging |
Het |
Apaf1 |
C |
T |
10: 90,895,520 (GRCm39) |
C426Y |
probably benign |
Het |
Bsn |
T |
C |
9: 107,987,232 (GRCm39) |
D2840G |
unknown |
Het |
Camsap1 |
A |
T |
2: 25,834,440 (GRCm39) |
C406* |
probably null |
Het |
Cbr2 |
A |
T |
11: 120,621,123 (GRCm39) |
M158K |
probably damaging |
Het |
Cgrrf1 |
T |
C |
14: 47,091,192 (GRCm39) |
S239P |
probably benign |
Het |
Clnk |
C |
A |
5: 38,952,254 (GRCm39) |
|
probably null |
Het |
Csad |
T |
C |
15: 102,086,197 (GRCm39) |
M445V |
probably damaging |
Het |
Dnajb7 |
T |
A |
15: 81,291,600 (GRCm39) |
N246Y |
probably damaging |
Het |
Dok6 |
T |
C |
18: 89,492,071 (GRCm39) |
I169V |
probably benign |
Het |
H2bc14 |
T |
C |
13: 21,906,631 (GRCm39) |
Y122H |
probably benign |
Het |
Il1f10 |
T |
G |
2: 24,181,267 (GRCm39) |
I11R |
possibly damaging |
Het |
Itga9 |
T |
C |
9: 118,706,211 (GRCm39) |
F938L |
probably damaging |
Het |
Kif7 |
T |
C |
7: 79,354,442 (GRCm39) |
D781G |
probably damaging |
Het |
Klhl41 |
A |
T |
2: 69,501,505 (GRCm39) |
N322I |
probably damaging |
Het |
Krtap31-1 |
T |
G |
11: 99,798,901 (GRCm39) |
C35G |
possibly damaging |
Het |
Lsm11 |
A |
T |
11: 45,824,824 (GRCm39) |
D234E |
probably benign |
Het |
Med6 |
T |
C |
12: 81,620,677 (GRCm39) |
K223R |
probably benign |
Het |
Mfsd4b2 |
G |
A |
10: 39,798,064 (GRCm39) |
T97I |
probably benign |
Het |
Mrgpra1 |
A |
T |
7: 46,985,204 (GRCm39) |
C158* |
probably null |
Het |
Nr2e1 |
T |
C |
10: 42,458,881 (GRCm39) |
T8A |
probably benign |
Het |
Oas2 |
T |
C |
5: 120,887,838 (GRCm39) |
M1V |
probably null |
Het |
Or13a27 |
T |
C |
7: 139,925,162 (GRCm39) |
I247V |
probably benign |
Het |
Or14a260 |
T |
A |
7: 85,984,885 (GRCm39) |
I240F |
probably benign |
Het |
Or1e33 |
T |
A |
11: 73,738,697 (GRCm39) |
M85L |
probably benign |
Het |
Or8k17 |
T |
C |
2: 86,066,504 (GRCm39) |
Y218C |
probably damaging |
Het |
Or8w1 |
T |
A |
2: 87,465,233 (GRCm39) |
N286I |
probably damaging |
Het |
Otof |
C |
T |
5: 30,537,538 (GRCm39) |
G1257D |
probably benign |
Het |
Phf2 |
T |
C |
13: 48,971,236 (GRCm39) |
T479A |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,942,232 (GRCm39) |
N1516S |
probably benign |
Het |
Qrich1 |
C |
A |
9: 108,433,236 (GRCm39) |
T622K |
probably damaging |
Het |
Rasip1 |
A |
G |
7: 45,281,943 (GRCm39) |
K482R |
probably damaging |
Het |
Rgl2 |
T |
C |
17: 34,155,918 (GRCm39) |
F698L |
probably benign |
Het |
Scarb1 |
T |
C |
5: 125,380,201 (GRCm39) |
D124G |
probably benign |
Het |
Sclt1 |
A |
G |
3: 41,625,917 (GRCm39) |
I350T |
probably benign |
Het |
Sec23ip |
T |
G |
7: 128,369,364 (GRCm39) |
V696G |
probably damaging |
Het |
Serpina1e |
G |
T |
12: 103,917,354 (GRCm39) |
T105K |
probably benign |
Het |
Sin3a |
A |
G |
9: 57,020,828 (GRCm39) |
|
probably null |
Het |
Slc34a2 |
A |
G |
5: 53,218,182 (GRCm39) |
T154A |
probably damaging |
Het |
Slc9a3 |
T |
C |
13: 74,303,241 (GRCm39) |
L178P |
probably damaging |
Het |
Smarca2 |
A |
C |
19: 26,659,448 (GRCm39) |
I913L |
probably benign |
Het |
Spaca7b |
T |
A |
8: 11,715,056 (GRCm39) |
D46V |
probably damaging |
Het |
Tcea3 |
G |
A |
4: 136,001,027 (GRCm39) |
|
probably null |
Het |
Tektl1 |
G |
C |
10: 78,584,509 (GRCm39) |
Q338E |
probably benign |
Het |
Tmcc1 |
T |
A |
6: 116,020,435 (GRCm39) |
H339L |
|
Het |
Trpm2 |
G |
T |
10: 77,783,731 (GRCm39) |
H247Q |
probably damaging |
Het |
Tyr |
T |
A |
7: 87,121,724 (GRCm39) |
D356V |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,349,888 (GRCm39) |
C565S |
probably damaging |
Het |
Vmn2r82 |
A |
C |
10: 79,213,636 (GRCm39) |
N74T |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,973,260 (GRCm39) |
Y375H |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,675,353 (GRCm39) |
D2134E |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,464,010 (GRCm39) |
Y1414* |
probably null |
Het |
Zfp282 |
A |
T |
6: 47,867,626 (GRCm39) |
E267D |
possibly damaging |
Het |
Zfp442 |
A |
T |
2: 150,251,096 (GRCm39) |
C269S |
possibly damaging |
Het |
Zp3 |
T |
A |
5: 136,014,418 (GRCm39) |
S246T |
probably benign |
Het |
|
Other mutations in Irs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00325:Irs1
|
APN |
1 |
82,266,204 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00534:Irs1
|
APN |
1 |
82,266,192 (GRCm39) |
missense |
probably benign |
|
IGL01926:Irs1
|
APN |
1 |
82,267,680 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02130:Irs1
|
APN |
1 |
82,267,188 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03338:Irs1
|
APN |
1 |
82,266,122 (GRCm39) |
missense |
probably benign |
0.05 |
Hoverboard
|
UTSW |
1 |
82,267,819 (GRCm39) |
nonsense |
probably null |
|
runt
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
runt2
|
UTSW |
1 |
82,264,688 (GRCm39) |
nonsense |
probably null |
|
Sprite
|
UTSW |
1 |
82,265,830 (GRCm39) |
nonsense |
probably null |
|
R0019:Irs1
|
UTSW |
1 |
82,264,977 (GRCm39) |
nonsense |
probably null |
|
R0063:Irs1
|
UTSW |
1 |
82,266,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R0063:Irs1
|
UTSW |
1 |
82,266,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R0318:Irs1
|
UTSW |
1 |
82,266,381 (GRCm39) |
missense |
probably benign |
0.01 |
R1199:Irs1
|
UTSW |
1 |
82,267,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R1363:Irs1
|
UTSW |
1 |
82,265,009 (GRCm39) |
missense |
probably benign |
0.02 |
R1584:Irs1
|
UTSW |
1 |
82,267,165 (GRCm39) |
missense |
probably benign |
0.24 |
R1874:Irs1
|
UTSW |
1 |
82,267,574 (GRCm39) |
frame shift |
probably null |
|
R1903:Irs1
|
UTSW |
1 |
82,267,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Irs1
|
UTSW |
1 |
82,266,180 (GRCm39) |
missense |
probably benign |
|
R1986:Irs1
|
UTSW |
1 |
82,266,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Irs1
|
UTSW |
1 |
82,267,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R2179:Irs1
|
UTSW |
1 |
82,267,940 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2271:Irs1
|
UTSW |
1 |
82,266,180 (GRCm39) |
missense |
probably benign |
|
R2760:Irs1
|
UTSW |
1 |
82,266,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R3721:Irs1
|
UTSW |
1 |
82,267,806 (GRCm39) |
missense |
probably benign |
0.11 |
R3821:Irs1
|
UTSW |
1 |
82,267,770 (GRCm39) |
missense |
probably benign |
|
R4306:Irs1
|
UTSW |
1 |
82,265,685 (GRCm39) |
missense |
probably benign |
0.11 |
R4420:Irs1
|
UTSW |
1 |
82,266,171 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4451:Irs1
|
UTSW |
1 |
82,266,749 (GRCm39) |
missense |
probably benign |
0.00 |
R4479:Irs1
|
UTSW |
1 |
82,265,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Irs1
|
UTSW |
1 |
82,265,696 (GRCm39) |
missense |
probably benign |
0.00 |
R4782:Irs1
|
UTSW |
1 |
82,265,184 (GRCm39) |
missense |
probably benign |
0.00 |
R4836:Irs1
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
R4880:Irs1
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
R4881:Irs1
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
R5031:Irs1
|
UTSW |
1 |
82,264,688 (GRCm39) |
nonsense |
probably null |
|
R5053:Irs1
|
UTSW |
1 |
82,264,643 (GRCm39) |
missense |
probably benign |
|
R5418:Irs1
|
UTSW |
1 |
82,266,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R5595:Irs1
|
UTSW |
1 |
82,267,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R5698:Irs1
|
UTSW |
1 |
82,266,455 (GRCm39) |
missense |
probably benign |
0.01 |
R6381:Irs1
|
UTSW |
1 |
82,265,405 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6563:Irs1
|
UTSW |
1 |
82,266,128 (GRCm39) |
missense |
probably damaging |
0.98 |
R7002:Irs1
|
UTSW |
1 |
82,265,981 (GRCm39) |
missense |
probably benign |
0.13 |
R7095:Irs1
|
UTSW |
1 |
82,267,819 (GRCm39) |
nonsense |
probably null |
|
R7195:Irs1
|
UTSW |
1 |
82,265,177 (GRCm39) |
missense |
probably benign |
0.13 |
R7216:Irs1
|
UTSW |
1 |
82,267,476 (GRCm39) |
missense |
probably damaging |
0.98 |
R7361:Irs1
|
UTSW |
1 |
82,266,835 (GRCm39) |
nonsense |
probably null |
|
R7490:Irs1
|
UTSW |
1 |
82,264,985 (GRCm39) |
missense |
probably damaging |
0.99 |
R7540:Irs1
|
UTSW |
1 |
82,265,723 (GRCm39) |
missense |
not run |
|
R7706:Irs1
|
UTSW |
1 |
82,265,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R7910:Irs1
|
UTSW |
1 |
82,267,802 (GRCm39) |
missense |
probably benign |
0.06 |
R7912:Irs1
|
UTSW |
1 |
82,267,605 (GRCm39) |
missense |
probably benign |
|
R7962:Irs1
|
UTSW |
1 |
82,266,443 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8139:Irs1
|
UTSW |
1 |
82,267,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R8159:Irs1
|
UTSW |
1 |
82,266,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R8187:Irs1
|
UTSW |
1 |
82,266,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R8288:Irs1
|
UTSW |
1 |
82,265,682 (GRCm39) |
nonsense |
probably null |
|
R8436:Irs1
|
UTSW |
1 |
82,267,970 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8865:Irs1
|
UTSW |
1 |
82,265,830 (GRCm39) |
nonsense |
probably null |
|
R8950:Irs1
|
UTSW |
1 |
82,264,652 (GRCm39) |
missense |
probably benign |
|
R9591:Irs1
|
UTSW |
1 |
82,265,969 (GRCm39) |
missense |
probably benign |
0.00 |
X0063:Irs1
|
UTSW |
1 |
82,266,629 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Irs1
|
UTSW |
1 |
82,267,086 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Irs1
|
UTSW |
1 |
82,268,115 (GRCm39) |
missense |
probably benign |
0.29 |
Z1177:Irs1
|
UTSW |
1 |
82,266,717 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTGAAGGTGAGCATCTAG -3'
(R):5'- CATTCTAGAGGCAATGAGGGC -3'
Sequencing Primer
(F):5'- TGAGCATCTAGAAGAAGGCATG -3'
(R):5'- ATGAGTTTCGCCCTCGCAG -3'
|
Posted On |
2020-06-30 |