Incidental Mutation 'R4880:Irs1'
ID |
375181 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irs1
|
Ensembl Gene |
ENSMUSG00000055980 |
Gene Name |
insulin receptor substrate 1 |
Synonyms |
G972R, IRS-1 |
MMRRC Submission |
042489-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.620)
|
Stock # |
R4880 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
TGGGGTGGACATCGAACTGAAGGAG to TG
at 82265453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
at position 913
(913)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069799]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000069799
AA Change: 913
|
SMART Domains |
Protein: ENSMUSP00000063795 Gene: ENSMUSG00000055980 AA Change: 913
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
98% (89/91) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
C |
7: 41,276,529 (GRCm39) |
I744T |
possibly damaging |
Het |
Adgrb1 |
T |
A |
15: 74,458,871 (GRCm39) |
F1324L |
possibly damaging |
Het |
Adm |
A |
G |
7: 110,228,326 (GRCm39) |
H230R |
probably benign |
Het |
Ank2 |
A |
T |
3: 126,840,475 (GRCm39) |
|
probably null |
Het |
Arih1 |
A |
T |
9: 59,344,168 (GRCm39) |
F156L |
possibly damaging |
Het |
Atf6b |
A |
G |
17: 34,873,529 (GRCm39) |
H660R |
probably damaging |
Het |
Bcl9l |
C |
A |
9: 44,420,007 (GRCm39) |
Q1101K |
probably benign |
Het |
Ccdc174 |
G |
A |
6: 91,876,572 (GRCm39) |
|
probably benign |
Het |
Ccdc65 |
A |
C |
15: 98,620,538 (GRCm39) |
|
probably null |
Het |
Cela2a |
T |
C |
4: 141,549,598 (GRCm39) |
N59S |
probably benign |
Het |
Cfap157 |
A |
T |
2: 32,668,261 (GRCm39) |
V393E |
probably damaging |
Het |
Chd1 |
T |
C |
17: 17,594,916 (GRCm39) |
F17S |
probably damaging |
Het |
Cpne3 |
T |
C |
4: 19,540,827 (GRCm39) |
I183V |
probably benign |
Het |
Cyp2d11 |
C |
A |
15: 82,276,306 (GRCm39) |
V122L |
probably benign |
Het |
Dcaf8 |
C |
A |
1: 172,015,056 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
T |
A |
7: 105,404,937 (GRCm39) |
D2535V |
probably benign |
Het |
Eif4a2 |
G |
T |
16: 22,927,650 (GRCm39) |
|
probably benign |
Het |
Fzd4 |
T |
A |
7: 89,057,109 (GRCm39) |
D385E |
probably benign |
Het |
Galnt13 |
C |
A |
2: 54,950,584 (GRCm39) |
Q422K |
probably damaging |
Het |
Gnptab |
C |
T |
10: 88,268,413 (GRCm39) |
Q507* |
probably null |
Het |
Hoxa7 |
A |
G |
6: 52,194,014 (GRCm39) |
|
probably benign |
Het |
Htra1 |
T |
A |
7: 130,563,813 (GRCm39) |
V228D |
probably damaging |
Het |
Idi2l |
A |
T |
13: 8,990,702 (GRCm39) |
|
probably null |
Het |
Ifi203 |
T |
A |
1: 173,756,716 (GRCm39) |
|
probably benign |
Het |
Iqca1l |
T |
C |
5: 24,754,750 (GRCm39) |
D340G |
probably benign |
Het |
Itga2b |
G |
T |
11: 102,348,548 (GRCm39) |
|
probably benign |
Het |
Itgb1 |
G |
T |
8: 129,442,631 (GRCm39) |
R272L |
probably damaging |
Het |
Kif9 |
A |
G |
9: 110,330,703 (GRCm39) |
E343G |
probably damaging |
Het |
Klhl5 |
T |
C |
5: 65,316,244 (GRCm39) |
V97A |
probably damaging |
Het |
Lama5 |
C |
A |
2: 179,818,861 (GRCm39) |
|
probably benign |
Het |
Lamb2 |
A |
G |
9: 108,361,226 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
A |
2: 41,660,931 (GRCm39) |
Y59F |
probably benign |
Het |
Mmrn1 |
A |
G |
6: 60,953,423 (GRCm39) |
E568G |
probably benign |
Het |
Mreg |
A |
G |
1: 72,201,495 (GRCm39) |
Y166H |
probably damaging |
Het |
Myh7 |
C |
A |
14: 55,216,045 (GRCm39) |
V1323F |
probably benign |
Het |
Nr1i3 |
T |
A |
1: 171,043,951 (GRCm39) |
I91K |
probably damaging |
Het |
Nsfl1c |
T |
A |
2: 151,348,230 (GRCm39) |
D206E |
probably damaging |
Het |
Or11g24 |
T |
C |
14: 50,662,758 (GRCm39) |
Y261H |
possibly damaging |
Het |
Or13c3 |
A |
T |
4: 52,856,411 (GRCm39) |
M34K |
probably damaging |
Het |
Or2ak5 |
G |
A |
11: 58,611,107 (GRCm39) |
L256F |
probably benign |
Het |
Or4k44 |
A |
T |
2: 111,367,698 (GRCm39) |
L312* |
probably null |
Het |
Or5k17 |
A |
C |
16: 58,746,463 (GRCm39) |
L157W |
probably damaging |
Het |
Or8b54 |
T |
A |
9: 38,686,843 (GRCm39) |
C97* |
probably null |
Het |
Pcdhb7 |
C |
T |
18: 37,475,284 (GRCm39) |
T140I |
probably benign |
Het |
Pcdhgb5 |
T |
G |
18: 37,865,641 (GRCm39) |
S479A |
probably benign |
Het |
Pcsk5 |
T |
A |
19: 17,425,054 (GRCm39) |
Y1583F |
probably damaging |
Het |
Pias1 |
T |
C |
9: 62,820,080 (GRCm39) |
R296G |
probably benign |
Het |
Plscr1l1 |
A |
G |
9: 92,236,665 (GRCm39) |
E108G |
probably damaging |
Het |
Polr1e |
T |
A |
4: 45,022,280 (GRCm39) |
C100S |
probably damaging |
Het |
Rpap1 |
C |
A |
2: 119,614,346 (GRCm39) |
R17L |
probably damaging |
Het |
Rtn1 |
C |
T |
12: 72,264,232 (GRCm39) |
V192I |
possibly damaging |
Het |
Ryr2 |
G |
A |
13: 11,767,104 (GRCm39) |
P1262L |
probably damaging |
Het |
Slc4a7 |
G |
T |
14: 14,757,342 (GRCm38) |
D396Y |
probably damaging |
Het |
Slc5a8 |
T |
C |
10: 88,727,886 (GRCm39) |
Y118H |
probably damaging |
Het |
Slc7a6os |
T |
A |
8: 106,937,247 (GRCm39) |
Q71L |
probably benign |
Het |
Sphkap |
A |
G |
1: 83,266,538 (GRCm39) |
V127A |
probably damaging |
Het |
Srpk1 |
A |
G |
17: 28,810,199 (GRCm39) |
S580P |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,026,593 (GRCm39) |
I3474V |
probably damaging |
Het |
Tchh |
A |
G |
3: 93,351,130 (GRCm39) |
D190G |
possibly damaging |
Het |
Tenm4 |
T |
A |
7: 96,555,025 (GRCm39) |
|
probably null |
Het |
Tex14 |
T |
A |
11: 87,377,121 (GRCm39) |
I155N |
possibly damaging |
Het |
Tm7sf3 |
A |
T |
6: 146,511,358 (GRCm39) |
V377E |
possibly damaging |
Het |
Tnfsf9 |
T |
A |
17: 57,412,433 (GRCm39) |
M1K |
probably null |
Het |
Tns2 |
C |
T |
15: 102,020,474 (GRCm39) |
T780I |
probably damaging |
Het |
Trdn |
T |
A |
10: 33,347,575 (GRCm39) |
D639E |
probably benign |
Het |
Trmt10a |
A |
G |
3: 137,857,972 (GRCm39) |
E173G |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,649,119 (GRCm39) |
P10984S |
possibly damaging |
Het |
Tubb6 |
C |
T |
18: 67,534,386 (GRCm39) |
T95M |
possibly damaging |
Het |
Uroc1 |
G |
T |
6: 90,334,519 (GRCm39) |
R577L |
probably damaging |
Het |
Vmn2r86 |
T |
A |
10: 130,289,484 (GRCm39) |
D137V |
probably benign |
Het |
Xkr7 |
T |
C |
2: 152,896,873 (GRCm39) |
Y576H |
probably damaging |
Het |
Zfp410 |
A |
G |
12: 84,384,449 (GRCm39) |
N355D |
probably damaging |
Het |
Zfp59 |
C |
A |
7: 27,543,742 (GRCm39) |
D22E |
probably damaging |
Het |
Zfp64 |
C |
T |
2: 168,736,297 (GRCm39) |
R460H |
probably damaging |
Het |
Zfp655 |
T |
C |
5: 145,181,168 (GRCm39) |
V342A |
probably damaging |
Het |
Zfp990 |
G |
A |
4: 145,264,490 (GRCm39) |
G496E |
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 |
|
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'- AGTCACCACGGCTATTTGG -3'
(R):5'- AGGTAGACACAGCTGCACAG -3'
Sequencing Primer
(F):5'- ACGGCTATTTGGCACCGAAC -3'
(R):5'- TCGACCCACAAGGCTGTC -3'
|
Posted On |
2016-03-17 |