Incidental Mutation 'R5418:Irs1'
| ID |
484514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irs1
|
| Ensembl Gene |
ENSMUSG00000055980 |
| Gene Name |
insulin receptor substrate 1 |
| Synonyms |
G972R, IRS-1 |
| MMRRC Submission |
042986-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.558)
|
| Stock # |
R5418 (G1)
|
| Quality Score |
53 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82266491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 575
(T575I)
|
| 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: T575I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: T575I
| 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 |
|
| Meta Mutation Damage Score |
0.1878 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (81/82) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,244,738 (GRCm39) |
S205P |
probably damaging |
Het |
| Abcc1 |
T |
C |
16: 14,278,996 (GRCm39) |
V1102A |
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,896,853 (GRCm39) |
M202K |
probably damaging |
Het |
| Acoxl |
T |
A |
2: 127,719,722 (GRCm39) |
M161K |
probably benign |
Het |
| Adamts4 |
T |
A |
1: 171,080,143 (GRCm39) |
V35E |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,087,894 (GRCm39) |
S614G |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,567,427 (GRCm39) |
I5249L |
probably benign |
Het |
| Agps |
A |
G |
2: 75,689,248 (GRCm39) |
T252A |
probably damaging |
Het |
| Alms1-ps1 |
G |
A |
6: 85,732,584 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd24 |
T |
A |
10: 81,480,776 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,416,733 (GRCm39) |
Q218R |
possibly damaging |
Het |
| Bin2 |
T |
C |
15: 100,547,027 (GRCm39) |
Y232C |
probably damaging |
Het |
| Bptf |
A |
G |
11: 107,002,120 (GRCm39) |
Y331H |
probably damaging |
Het |
| Ccr10 |
C |
T |
11: 101,064,904 (GRCm39) |
V209M |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,791,810 (GRCm39) |
D371V |
possibly damaging |
Het |
| Col1a2 |
A |
G |
6: 4,516,931 (GRCm39) |
|
probably benign |
Het |
| Crlf2 |
A |
G |
5: 109,704,899 (GRCm39) |
V104A |
probably benign |
Het |
| Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,281,935 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
A |
11: 117,985,810 (GRCm39) |
E1422D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Efcab11 |
A |
G |
12: 99,821,877 (GRCm39) |
L80S |
possibly damaging |
Het |
| Emc8 |
G |
A |
8: 121,385,342 (GRCm39) |
T130M |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 27,688,467 (GRCm39) |
M196V |
probably benign |
Het |
| Etnk2 |
T |
C |
1: 133,300,995 (GRCm39) |
I254T |
probably damaging |
Het |
| Fam120b |
C |
T |
17: 15,622,061 (GRCm39) |
T13M |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,203,966 (GRCm39) |
K423E |
probably benign |
Het |
| Fcgbp |
G |
A |
7: 27,784,738 (GRCm39) |
G266D |
probably damaging |
Het |
| Fndc4 |
A |
T |
5: 31,451,978 (GRCm39) |
S146R |
probably benign |
Het |
| Frmd3 |
G |
A |
4: 74,079,935 (GRCm39) |
|
probably null |
Het |
| Glrx2 |
C |
A |
1: 143,615,446 (GRCm39) |
S16R |
possibly damaging |
Het |
| Gm26526 |
T |
G |
7: 39,238,358 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
C |
T |
2: 34,898,195 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,787,313 (GRCm39) |
C1695R |
probably damaging |
Het |
| Hic1 |
A |
G |
11: 75,057,425 (GRCm39) |
|
probably null |
Het |
| Igkv4-92 |
A |
T |
6: 68,732,564 (GRCm39) |
V5E |
possibly damaging |
Het |
| Kcp |
A |
T |
6: 29,504,283 (GRCm39) |
Y143* |
probably null |
Het |
| Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
| Klra6 |
T |
A |
6: 129,990,393 (GRCm39) |
L239F |
probably damaging |
Het |
| Lhx6 |
A |
G |
2: 35,977,378 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
G |
A |
3: 30,696,923 (GRCm39) |
P116S |
possibly damaging |
Het |
| Map3k9 |
T |
A |
12: 81,790,591 (GRCm39) |
K321* |
probably null |
Het |
| Mapk14 |
T |
C |
17: 28,960,817 (GRCm39) |
V196A |
possibly damaging |
Het |
| Matcap2 |
G |
T |
9: 22,343,066 (GRCm39) |
R187L |
probably damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,270,045 (GRCm39) |
L711P |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,732,600 (GRCm39) |
S627P |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,553,410 (GRCm39) |
Y2631N |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,524,035 (GRCm39) |
V153A |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,552,343 (GRCm39) |
I37M |
probably benign |
Het |
| Pax6 |
A |
T |
2: 105,521,910 (GRCm39) |
D175V |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,213,519 (GRCm39) |
L1793P |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,140,506 (GRCm39) |
V404A |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,050,694 (GRCm39) |
Y421H |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,612,961 (GRCm39) |
V3173G |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,599,840 (GRCm39) |
I49N |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,699 (GRCm39) |
V400E |
probably damaging |
Het |
| Rbm11 |
A |
C |
16: 75,393,423 (GRCm39) |
T40P |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,227,634 (GRCm39) |
Y227H |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Sema3f |
A |
G |
9: 107,569,820 (GRCm39) |
Y70H |
probably damaging |
Het |
| Senp6 |
G |
A |
9: 80,029,151 (GRCm39) |
E505K |
possibly damaging |
Het |
| Slc25a3 |
T |
C |
10: 90,955,398 (GRCm39) |
I147M |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,760,280 (GRCm38) |
S572T |
probably benign |
Het |
| Smarcal1 |
C |
T |
1: 72,638,068 (GRCm39) |
P501S |
probably benign |
Het |
| Sox7 |
C |
T |
14: 64,185,396 (GRCm39) |
T144M |
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,797,214 (GRCm39) |
F304S |
possibly damaging |
Het |
| Tcf3 |
A |
G |
10: 80,263,517 (GRCm39) |
F46L |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,324,449 (GRCm39) |
V347A |
probably damaging |
Het |
| Tpcn2 |
C |
T |
7: 144,832,518 (GRCm39) |
E113K |
probably damaging |
Het |
| Vmn1r232 |
T |
A |
17: 21,134,378 (GRCm39) |
Y74F |
possibly damaging |
Het |
| Vmn2r102 |
C |
T |
17: 19,914,415 (GRCm39) |
T660I |
probably damaging |
Het |
| Zdhhc3 |
A |
G |
9: 122,909,456 (GRCm39) |
M234T |
probably damaging |
Het |
| Zfp960 |
T |
A |
17: 17,307,805 (GRCm39) |
L173H |
probably damaging |
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 |
|
|
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'- ATTGGGGTCCACTCTCTGTG -3'
(R):5'- TTTCGAAAGAGAACTCACTCCGC -3'
Sequencing Primer
(F):5'- CAGATACACTCTTGGGGCTCATG -3'
(R):5'- GCAGGCACATCTCCTACCATTTC -3'
|
| Posted On |
2017-08-08 |
Incidental Mutation