Incidental Mutation 'R3821:Irs1'
| ID |
274893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irs1
|
| Ensembl Gene |
ENSMUSG00000055980 |
| Gene Name |
insulin receptor substrate 1 |
| Synonyms |
G972R, IRS-1 |
| MMRRC Submission |
040883-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.647)
|
| Stock # |
R3821 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
82233101-82291416 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82290049 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 149
(T149A)
|
| 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: T149A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: T149A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
A |
11: 101,411,145 (GRCm38) |
I332F |
probably damaging |
Het |
| Abcd2 |
C |
T |
15: 91,174,705 (GRCm38) |
G512D |
probably damaging |
Het |
| Acpp |
G |
T |
9: 104,324,717 (GRCm38) |
Q76K |
probably damaging |
Het |
| Adamtsl3 |
G |
T |
7: 82,606,479 (GRCm38) |
|
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,186,482 (GRCm38) |
I481F |
probably damaging |
Het |
| Anp32e |
A |
T |
3: 95,934,869 (GRCm38) |
I100L |
probably benign |
Het |
| Arpin |
G |
A |
7: 79,929,660 (GRCm38) |
R72C |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,789,584 (GRCm38) |
E466G |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,831,019 (GRCm38) |
L76F |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,901,393 (GRCm38) |
|
probably null |
Het |
| Clgn |
A |
G |
8: 83,420,477 (GRCm38) |
I353V |
probably null |
Het |
| Cnot6 |
A |
T |
11: 49,689,172 (GRCm38) |
S98T |
probably benign |
Het |
| Col9a2 |
C |
G |
4: 121,054,258 (GRCm38) |
R599G |
probably damaging |
Het |
| Cramp1l |
G |
A |
17: 24,974,782 (GRCm38) |
T908I |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,851,003 (GRCm38) |
|
probably null |
Het |
| Ehd3 |
A |
T |
17: 73,827,395 (GRCm38) |
I250F |
probably benign |
Het |
| Eml2 |
T |
C |
7: 19,202,986 (GRCm38) |
V555A |
possibly damaging |
Het |
| Erbb4 |
A |
G |
1: 68,305,913 (GRCm38) |
S550P |
probably damaging |
Het |
| Fam196b |
T |
C |
11: 34,403,007 (GRCm38) |
S350P |
probably benign |
Het |
| Fchsd1 |
A |
G |
18: 37,969,457 (GRCm38) |
|
probably benign |
Het |
| Flad1 |
T |
A |
3: 89,411,187 (GRCm38) |
I20F |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,652,415 (GRCm38) |
L1557Q |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,264,807 (GRCm38) |
I506T |
probably damaging |
Het |
| Gm20730 |
C |
T |
6: 43,081,722 (GRCm38) |
S52N |
probably benign |
Het |
| Hoxc9 |
A |
G |
15: 102,982,164 (GRCm38) |
K171R |
probably benign |
Het |
| Hscb |
A |
T |
5: 110,836,328 (GRCm38) |
D52E |
probably damaging |
Het |
| Htr1b |
A |
T |
9: 81,632,434 (GRCm38) |
I40N |
probably benign |
Het |
| Ido2 |
T |
C |
8: 24,533,755 (GRCm38) |
I356V |
probably benign |
Het |
| Itgam |
A |
G |
7: 128,112,286 (GRCm38) |
|
probably null |
Het |
| Itpr2 |
A |
T |
6: 146,417,726 (GRCm38) |
H244Q |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,367,611 (GRCm38) |
I846T |
probably damaging |
Het |
| Kdm3a |
A |
T |
6: 71,611,677 (GRCm38) |
D449E |
probably benign |
Het |
| Lama1 |
C |
A |
17: 67,779,046 (GRCm38) |
|
probably null |
Het |
| Lhfpl4 |
A |
G |
6: 113,194,108 (GRCm38) |
V39A |
probably benign |
Het |
| Marf1 |
A |
T |
16: 14,142,554 (GRCm38) |
L542Q |
probably damaging |
Het |
| Mns1 |
A |
G |
9: 72,439,448 (GRCm38) |
E71G |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,348,431 (GRCm38) |
|
probably null |
Het |
| Mrpl19 |
C |
A |
6: 81,962,006 (GRCm38) |
E272* |
probably null |
Het |
| Ncoa6 |
T |
A |
2: 155,406,938 (GRCm38) |
N1482I |
probably damaging |
Het |
| Neto2 |
C |
A |
8: 85,663,295 (GRCm38) |
E180* |
probably null |
Het |
| Olfr435 |
A |
G |
6: 43,201,670 (GRCm38) |
T9A |
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,747,942 (GRCm38) |
N252S |
probably damaging |
Het |
| Pcdhgb7 |
C |
A |
18: 37,752,233 (GRCm38) |
T152K |
possibly damaging |
Het |
| Ptprb |
G |
T |
10: 116,350,074 (GRCm38) |
R1678L |
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,226,375 (GRCm38) |
I1323L |
probably benign |
Het |
| Rab40b |
T |
A |
11: 121,358,048 (GRCm38) |
N127I |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,638,633 (GRCm38) |
C814R |
probably benign |
Het |
| Sdhb |
C |
T |
4: 140,979,088 (GRCm38) |
R279* |
probably null |
Het |
| Shroom4 |
C |
T |
X: 6,624,222 (GRCm38) |
Q1165* |
probably null |
Het |
| Slc17a4 |
C |
T |
13: 23,901,769 (GRCm38) |
R387H |
probably benign |
Het |
| Slc20a2 |
A |
G |
8: 22,538,902 (GRCm38) |
I130V |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 73,049,216 (GRCm38) |
Y741C |
possibly damaging |
Het |
| Tas1r1 |
G |
T |
4: 152,034,681 (GRCm38) |
L144I |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 36,024,320 (GRCm38) |
I2129N |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,293,930 (GRCm38) |
V92A |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,808,396 (GRCm38) |
H1207L |
probably damaging |
Het |
| Tmem209 |
G |
T |
6: 30,505,960 (GRCm38) |
P116T |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,689,745 (GRCm38) |
H800N |
probably damaging |
Het |
| Tnfsf8 |
A |
G |
4: 63,860,890 (GRCm38) |
V57A |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,797,783 (GRCm38) |
D1492G |
possibly damaging |
Het |
| Trank1 |
G |
A |
9: 111,378,819 (GRCm38) |
G1711R |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,610,278 (GRCm38) |
D249V |
probably damaging |
Het |
| Ubr3 |
G |
A |
2: 69,993,813 (GRCm38) |
|
probably null |
Het |
| Ufc1 |
A |
G |
1: 171,289,599 (GRCm38) |
|
probably benign |
Het |
| Unc5cl |
T |
C |
17: 48,459,973 (GRCm38) |
L125P |
possibly damaging |
Het |
| Usb1 |
G |
A |
8: 95,333,433 (GRCm38) |
S57N |
probably benign |
Het |
| Wdfy1 |
A |
G |
1: 79,706,300 (GRCm38) |
S373P |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,133,564 (GRCm38) |
A861T |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,644,023 (GRCm38) |
S164P |
possibly damaging |
Het |
|
| Other mutations in Irs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Irs1
|
APN |
1 |
82,288,483 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00534:Irs1
|
APN |
1 |
82,288,471 (GRCm38) |
missense |
probably benign |
|
|
IGL01926:Irs1
|
APN |
1 |
82,289,959 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02130:Irs1
|
APN |
1 |
82,289,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03338:Irs1
|
APN |
1 |
82,288,401 (GRCm38) |
missense |
probably benign |
0.05 |
|
Hoverboard
|
UTSW |
1 |
82,290,098 (GRCm38) |
nonsense |
probably null |
|
|
runt
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
runt2
|
UTSW |
1 |
82,286,967 (GRCm38) |
nonsense |
probably null |
|
|
Sprite
|
UTSW |
1 |
82,288,109 (GRCm38) |
nonsense |
probably null |
|
|
R0019:Irs1
|
UTSW |
1 |
82,287,256 (GRCm38) |
nonsense |
probably null |
|
|
R0063:Irs1
|
UTSW |
1 |
82,288,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0063:Irs1
|
UTSW |
1 |
82,288,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0318:Irs1
|
UTSW |
1 |
82,288,660 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1199:Irs1
|
UTSW |
1 |
82,289,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1363:Irs1
|
UTSW |
1 |
82,287,288 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1584:Irs1
|
UTSW |
1 |
82,289,444 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1874:Irs1
|
UTSW |
1 |
82,289,853 (GRCm38) |
frame shift |
probably null |
|
|
R1903:Irs1
|
UTSW |
1 |
82,289,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1929:Irs1
|
UTSW |
1 |
82,288,459 (GRCm38) |
missense |
probably benign |
|
|
R1986:Irs1
|
UTSW |
1 |
82,288,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2136:Irs1
|
UTSW |
1 |
82,290,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2179:Irs1
|
UTSW |
1 |
82,290,219 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2271:Irs1
|
UTSW |
1 |
82,288,459 (GRCm38) |
missense |
probably benign |
|
|
R2760:Irs1
|
UTSW |
1 |
82,288,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3721:Irs1
|
UTSW |
1 |
82,290,085 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4306:Irs1
|
UTSW |
1 |
82,287,964 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4420:Irs1
|
UTSW |
1 |
82,288,450 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4451:Irs1
|
UTSW |
1 |
82,289,028 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4479:Irs1
|
UTSW |
1 |
82,287,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4771:Irs1
|
UTSW |
1 |
82,287,975 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4782:Irs1
|
UTSW |
1 |
82,287,463 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4836:Irs1
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
R4880:Irs1
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
R4881:Irs1
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
R5031:Irs1
|
UTSW |
1 |
82,286,967 (GRCm38) |
nonsense |
probably null |
|
|
R5053:Irs1
|
UTSW |
1 |
82,286,922 (GRCm38) |
missense |
probably benign |
|
|
R5418:Irs1
|
UTSW |
1 |
82,288,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5595:Irs1
|
UTSW |
1 |
82,289,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5698:Irs1
|
UTSW |
1 |
82,288,734 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6381:Irs1
|
UTSW |
1 |
82,287,684 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6563:Irs1
|
UTSW |
1 |
82,288,407 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7002:Irs1
|
UTSW |
1 |
82,288,260 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7095:Irs1
|
UTSW |
1 |
82,290,098 (GRCm38) |
nonsense |
probably null |
|
|
R7195:Irs1
|
UTSW |
1 |
82,287,456 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7216:Irs1
|
UTSW |
1 |
82,289,755 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7361:Irs1
|
UTSW |
1 |
82,289,114 (GRCm38) |
nonsense |
probably null |
|
|
R7490:Irs1
|
UTSW |
1 |
82,287,264 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7540:Irs1
|
UTSW |
1 |
82,288,002 (GRCm38) |
missense |
not run |
|
|
R7706:Irs1
|
UTSW |
1 |
82,287,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7910:Irs1
|
UTSW |
1 |
82,290,081 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7912:Irs1
|
UTSW |
1 |
82,289,884 (GRCm38) |
missense |
probably benign |
|
|
R7962:Irs1
|
UTSW |
1 |
82,288,722 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R8139:Irs1
|
UTSW |
1 |
82,289,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8158:Irs1
|
UTSW |
1 |
82,289,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8159:Irs1
|
UTSW |
1 |
82,288,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8187:Irs1
|
UTSW |
1 |
82,288,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8288:Irs1
|
UTSW |
1 |
82,287,961 (GRCm38) |
nonsense |
probably null |
|
|
R8436:Irs1
|
UTSW |
1 |
82,290,249 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R8865:Irs1
|
UTSW |
1 |
82,288,109 (GRCm38) |
nonsense |
probably null |
|
|
R8950:Irs1
|
UTSW |
1 |
82,286,931 (GRCm38) |
missense |
probably benign |
|
|
R9591:Irs1
|
UTSW |
1 |
82,288,248 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0063:Irs1
|
UTSW |
1 |
82,288,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0065:Irs1
|
UTSW |
1 |
82,289,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Irs1
|
UTSW |
1 |
82,290,394 (GRCm38) |
missense |
probably benign |
0.29 |
|
Z1177:Irs1
|
UTSW |
1 |
82,288,996 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTCATCAGCTGCAGCACC -3'
(R):5'- AACATCAACAAGCGGGCTG -3'
Sequencing Primer
(F):5'- AGCTGCAGCACCACAGC -3'
(R):5'- CCGAGACGAACACTTTGCCATTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation