Incidental Mutation 'R2136:Irs1'
| ID |
235771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irs1
|
| Ensembl Gene |
ENSMUSG00000055980 |
| Gene Name |
insulin receptor substrate 1 |
| Synonyms |
G972R, IRS-1 |
| MMRRC Submission |
040139-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.558)
|
| Stock # |
R2136 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 82267763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 151
(P151Q)
|
| 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: P151Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: P151Q
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
G |
16: 19,702,530 (GRCm39) |
|
noncoding transcript |
Het |
| Abca5 |
T |
C |
11: 110,210,658 (GRCm39) |
T174A |
probably benign |
Het |
| Abcg3 |
G |
A |
5: 105,114,680 (GRCm39) |
S279L |
probably benign |
Het |
| Acap3 |
T |
C |
4: 155,981,369 (GRCm39) |
L85P |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,101 (GRCm39) |
K290R |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,780,674 (GRCm39) |
T1909A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 63,982,808 (GRCm39) |
D832G |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,795,552 (GRCm39) |
L702Q |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,990,430 (GRCm39) |
V1774A |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,903,248 (GRCm39) |
E48G |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,805,493 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
C |
CA |
1: 74,956,432 (GRCm39) |
|
probably null |
Het |
| Cln3 |
A |
C |
7: 126,181,971 (GRCm39) |
S30R |
probably benign |
Het |
| Cluap1 |
C |
T |
16: 3,751,636 (GRCm39) |
R332W |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,265,163 (GRCm39) |
V85E |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,760,265 (GRCm39) |
R789W |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,572,397 (GRCm39) |
I212V |
probably benign |
Het |
| Cyp2t4 |
C |
A |
7: 26,857,585 (GRCm39) |
F391L |
probably benign |
Het |
| Dhx35 |
G |
T |
2: 158,673,781 (GRCm39) |
R404L |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 182,869,942 (GRCm39) |
L826S |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,122,772 (GRCm39) |
E2061D |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,648 (GRCm39) |
Y1393N |
unknown |
Het |
| Fap |
C |
T |
2: 62,354,551 (GRCm39) |
G446D |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 16,288,347 (GRCm39) |
I392T |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Glipr1l1 |
T |
C |
10: 111,896,381 (GRCm39) |
V56A |
probably damaging |
Het |
| Grsf1 |
A |
G |
5: 88,820,517 (GRCm39) |
V7A |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,509,410 (GRCm39) |
A3646V |
probably damaging |
Het |
| Ipo9 |
A |
T |
1: 135,322,023 (GRCm39) |
I569N |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,128,094 (GRCm39) |
D491G |
possibly damaging |
Het |
| Kctd7 |
T |
C |
5: 130,181,207 (GRCm39) |
L210P |
probably damaging |
Het |
| Lifr |
C |
A |
15: 7,211,338 (GRCm39) |
D625E |
possibly damaging |
Het |
| Lrguk |
T |
C |
6: 34,020,454 (GRCm39) |
V201A |
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,651,770 (GRCm39) |
V135A |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,870,722 (GRCm39) |
D70E |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,275,000 (GRCm39) |
Y434H |
probably damaging |
Het |
| Myh10 |
C |
A |
11: 68,695,540 (GRCm39) |
Q1556K |
probably damaging |
Het |
| Nav1 |
G |
A |
1: 135,382,174 (GRCm39) |
T1400I |
probably null |
Het |
| Or1j11 |
A |
G |
2: 36,311,950 (GRCm39) |
D180G |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,435 (GRCm39) |
K172E |
probably benign |
Het |
| Or4b13 |
A |
C |
2: 90,082,597 (GRCm39) |
V245G |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,313,961 (GRCm39) |
V62A |
probably damaging |
Het |
| Or4p7 |
T |
A |
2: 88,221,663 (GRCm39) |
I24N |
probably benign |
Het |
| Or5d43 |
T |
C |
2: 88,104,584 (GRCm39) |
K270E |
probably damaging |
Het |
| Or5e1 |
G |
A |
7: 108,354,430 (GRCm39) |
M122I |
possibly damaging |
Het |
| Osmr |
T |
A |
15: 6,881,943 (GRCm39) |
Q67L |
probably damaging |
Het |
| Pan2 |
T |
G |
10: 128,149,506 (GRCm39) |
V522G |
possibly damaging |
Het |
| Pard3 |
T |
G |
8: 128,103,366 (GRCm39) |
|
probably null |
Het |
| Pcdhgc5 |
G |
T |
18: 37,953,166 (GRCm39) |
A147S |
possibly damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,303,967 (GRCm39) |
I506V |
probably benign |
Het |
| Polr3d |
GCCCCC |
GCCCC |
14: 70,680,487 (GRCm39) |
|
probably null |
Het |
| Prdm4 |
G |
A |
10: 85,729,215 (GRCm39) |
R731* |
probably null |
Het |
| Prdx6b |
T |
A |
2: 80,123,507 (GRCm39) |
D105E |
probably damaging |
Het |
| Prss3b |
A |
G |
6: 41,012,396 (GRCm39) |
F6S |
probably benign |
Het |
| Rab42 |
A |
G |
4: 132,029,790 (GRCm39) |
L144P |
probably damaging |
Het |
| Ralbp1 |
T |
A |
17: 66,171,661 (GRCm39) |
K104M |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,230,320 (GRCm39) |
I1122K |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,881,038 (GRCm39) |
V131A |
probably damaging |
Het |
| Sbno1 |
C |
T |
5: 124,525,597 (GRCm39) |
|
probably null |
Het |
| Sbno2 |
A |
T |
10: 79,898,527 (GRCm39) |
I645N |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,367,028 (GRCm39) |
K624R |
probably benign |
Het |
| Sgk2 |
C |
A |
2: 162,841,099 (GRCm39) |
|
probably null |
Het |
| Sirt4 |
A |
G |
5: 115,617,760 (GRCm39) |
S299P |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,321,473 (GRCm39) |
S1322P |
possibly damaging |
Het |
| Slit2 |
C |
T |
5: 48,461,567 (GRCm39) |
A1521V |
probably benign |
Het |
| Socs7 |
T |
G |
11: 97,263,933 (GRCm39) |
V275G |
possibly damaging |
Het |
| Spink11 |
G |
A |
18: 44,323,554 (GRCm39) |
P102S |
probably benign |
Het |
| Tacc3 |
A |
G |
5: 33,828,748 (GRCm39) |
N534D |
probably damaging |
Het |
| Tas2r115 |
T |
C |
6: 132,714,309 (GRCm39) |
Y214C |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,650,454 (GRCm39) |
M875K |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,479,869 (GRCm39) |
L41Q |
possibly damaging |
Het |
| Vasn |
T |
A |
16: 4,467,659 (GRCm39) |
C535* |
probably null |
Het |
| Vcan |
T |
A |
13: 89,837,856 (GRCm39) |
I2563F |
probably damaging |
Het |
| Vmn2r63 |
T |
G |
7: 42,576,297 (GRCm39) |
Q505H |
probably damaging |
Het |
| Vmn2r65 |
T |
G |
7: 84,592,781 (GRCm39) |
Q475H |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,344,532 (GRCm39) |
Y231C |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,266 (GRCm39) |
V931A |
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 |
|
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 |
|
R8158:Irs1
|
UTSW |
1 |
82,267,254 (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'- TGGCCACAGCGTCTGATATTC -3'
(R):5'- CCAAGAACAAGCACCTGGTG -3'
Sequencing Primer
(F):5'- TGATATTCATCAGCTGCAGCAC -3'
(R):5'- GAGACGAACACTTTGCCATTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation