Incidental Mutation 'R7195:Irs1'
| ID |
559827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irs1
|
| Ensembl Gene |
ENSMUSG00000055980 |
| Gene Name |
insulin receptor substrate 1 |
| Synonyms |
G972R, IRS-1 |
| MMRRC Submission |
045336-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.620)
|
| Stock # |
R7195 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82265177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1013
(I1013T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069799]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069799
AA Change: I1013T
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: I1013T
| 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: 99.7%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
T |
C |
11: 58,179,242 (GRCm39) |
|
probably null |
Het |
| Abca2 |
A |
G |
2: 25,332,088 (GRCm39) |
D1400G |
probably benign |
Het |
| Actl11 |
A |
T |
9: 107,806,069 (GRCm39) |
K131* |
probably null |
Het |
| Adam39 |
A |
T |
8: 41,277,812 (GRCm39) |
R68* |
probably null |
Het |
| Akap7 |
A |
T |
10: 25,147,405 (GRCm39) |
N108K |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,338,721 (GRCm39) |
A14S |
probably benign |
Het |
| Ccdc141 |
T |
G |
2: 76,879,927 (GRCm39) |
N632T |
probably benign |
Het |
| Ccm2 |
T |
C |
11: 6,546,302 (GRCm39) |
S435P |
probably damaging |
Het |
| Cd36 |
A |
G |
5: 18,019,187 (GRCm39) |
L178P |
probably damaging |
Het |
| Cd7 |
T |
C |
11: 120,929,075 (GRCm39) |
I59V |
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,135,204 (GRCm39) |
S32T |
probably benign |
Het |
| Cep19 |
A |
G |
16: 31,925,904 (GRCm39) |
D104G |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,510,753 (GRCm39) |
P68S |
unknown |
Het |
| Col20a1 |
A |
G |
2: 180,649,024 (GRCm39) |
H1011R |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,504,463 (GRCm39) |
D1864V |
|
Het |
| D7Ertd443e |
A |
G |
7: 133,896,851 (GRCm39) |
V513A |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,818,162 (GRCm39) |
P228L |
probably damaging |
Het |
| Fam243 |
C |
T |
16: 92,118,037 (GRCm39) |
V84M |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,131 (GRCm39) |
R97G |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,540,386 (GRCm39) |
V768M |
probably damaging |
Het |
| Gdap1l1 |
A |
T |
2: 163,288,050 (GRCm39) |
N96Y |
probably damaging |
Het |
| Gm7168 |
T |
A |
17: 14,169,622 (GRCm39) |
Y330N |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,424,203 (GRCm39) |
N683S |
unknown |
Het |
| Ice2 |
C |
T |
9: 69,335,782 (GRCm39) |
P922S |
possibly damaging |
Het |
| Iglv2 |
A |
G |
16: 19,079,260 (GRCm39) |
V81A |
not run |
Het |
| Itih4 |
T |
C |
14: 30,621,432 (GRCm39) |
S832P |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,517,513 (GRCm39) |
Y388N |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,348,601 (GRCm39) |
S2698L |
unknown |
Het |
| Map4k4 |
T |
C |
1: 40,058,829 (GRCm39) |
Y1008H |
possibly damaging |
Het |
| Mdn1 |
G |
T |
4: 32,701,823 (GRCm39) |
G1519W |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,747,809 (GRCm39) |
D653E |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,208,733 (GRCm39) |
E48G |
probably damaging |
Het |
| Nup188 |
G |
A |
2: 30,231,842 (GRCm39) |
|
probably null |
Het |
| Or1p1b |
G |
T |
11: 74,130,394 (GRCm39) |
M1I |
probably null |
Het |
| Or3a4 |
T |
A |
11: 73,945,223 (GRCm39) |
M121L |
probably damaging |
Het |
| Or4c110 |
G |
A |
2: 88,832,075 (GRCm39) |
L186F |
|
Het |
| Or51a39 |
A |
G |
7: 102,362,873 (GRCm39) |
V249A |
possibly damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,574 (GRCm39) |
V251D |
probably damaging |
Het |
| Or7h8 |
A |
G |
9: 20,123,840 (GRCm39) |
N65S |
probably damaging |
Het |
| Oxct1 |
T |
C |
15: 4,158,383 (GRCm39) |
V439A |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,341 (GRCm39) |
G13W |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,509,237 (GRCm39) |
V230A |
probably benign |
Het |
| Pop1 |
C |
T |
15: 34,510,525 (GRCm39) |
S439L |
probably damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,929,533 (GRCm39) |
H83Q |
probably benign |
Het |
| Qrfp |
C |
T |
2: 31,698,704 (GRCm39) |
R76H |
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,246,139 (GRCm39) |
V197A |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,047 (GRCm39) |
N591D |
possibly damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,807 (GRCm39) |
Q80K |
possibly damaging |
Het |
| Spock1 |
C |
T |
13: 58,055,316 (GRCm39) |
G29D |
possibly damaging |
Het |
| Sprr1a |
G |
T |
3: 92,391,674 (GRCm39) |
P109Q |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,904,309 (GRCm39) |
F239L |
probably damaging |
Het |
| Tbx3 |
A |
G |
5: 119,813,648 (GRCm39) |
Y248C |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,266,637 (GRCm39) |
L217P |
probably damaging |
Het |
| Ubxn11 |
A |
C |
4: 133,853,726 (GRCm39) |
I398L |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,884 (GRCm39) |
S40T |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,023,900 (GRCm39) |
S894G |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,592,347 (GRCm39) |
|
probably null |
Het |
| Vps13c |
G |
A |
9: 67,853,107 (GRCm39) |
G2400D |
possibly damaging |
Het |
| Vps8 |
T |
C |
16: 21,275,032 (GRCm39) |
Y197H |
probably damaging |
Het |
| Wdr91 |
T |
C |
6: 34,866,209 (GRCm39) |
N486D |
possibly damaging |
Het |
| Wwp1 |
A |
G |
4: 19,627,908 (GRCm39) |
I695T |
possibly damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,382,547 (GRCm39) |
D133G |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,335,200 (GRCm39) |
I307V |
unknown |
Het |
| Zfp933 |
G |
A |
4: 147,910,636 (GRCm39) |
T320I |
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 |
|
|
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'- CCCTGGTGAATGCACTCATG -3'
(R):5'- ACATGAACATGGACTTGGGGC -3'
Sequencing Primer
(F):5'- ACTCATGCCCCCAGGTC -3'
(R):5'- CCTGGCAGGAGAGTGGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation