Incidental Mutation 'R7002:Irs1'
| ID |
544571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irs1
|
| Ensembl Gene |
ENSMUSG00000055980 |
| Gene Name |
insulin receptor substrate 1 |
| Synonyms |
G972R, IRS-1 |
| MMRRC Submission |
045107-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.620)
|
| Stock # |
R7002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82265981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 745
(Y745C)
|
| 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: Y745C
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: Y745C
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (73/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,832,390 (GRCm39) |
S1308P |
probably damaging |
Het |
| Abl2 |
A |
T |
1: 156,386,703 (GRCm39) |
R29W |
probably damaging |
Het |
| Adam6b |
C |
A |
12: 113,453,327 (GRCm39) |
S48* |
probably null |
Het |
| Adamts18 |
T |
A |
8: 114,501,922 (GRCm39) |
D313V |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,882,810 (GRCm39) |
S229G |
probably benign |
Het |
| Apol10a |
G |
A |
15: 77,369,046 (GRCm39) |
R15H |
possibly damaging |
Het |
| Bend4 |
T |
A |
5: 67,555,602 (GRCm39) |
T535S |
probably benign |
Het |
| Blm |
T |
C |
7: 80,119,501 (GRCm39) |
K1024R |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,463,383 (GRCm39) |
V1049A |
probably benign |
Het |
| Cerk |
T |
C |
15: 86,040,795 (GRCm39) |
Y188C |
possibly damaging |
Het |
| Cic |
C |
T |
7: 24,971,621 (GRCm39) |
R451C |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 77,002,177 (GRCm39) |
V10E |
unknown |
Het |
| Cplx1 |
T |
A |
5: 108,668,182 (GRCm39) |
K58M |
probably damaging |
Het |
| Crybg1 |
T |
A |
10: 43,874,831 (GRCm39) |
D759V |
probably damaging |
Het |
| Cwc25 |
A |
T |
11: 97,638,897 (GRCm39) |
N342K |
probably damaging |
Het |
| Dab2 |
A |
T |
15: 6,464,846 (GRCm39) |
T566S |
probably benign |
Het |
| Depdc5 |
G |
A |
5: 33,034,502 (GRCm39) |
|
probably null |
Het |
| Dip2b |
T |
A |
15: 100,058,346 (GRCm39) |
N408K |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,598,955 (GRCm39) |
I3631T |
probably damaging |
Het |
| Dnase1 |
A |
G |
16: 3,857,410 (GRCm39) |
I236V |
possibly damaging |
Het |
| Duox1 |
C |
T |
2: 122,150,358 (GRCm39) |
Q196* |
probably null |
Het |
| Eef2k |
G |
A |
7: 120,491,155 (GRCm39) |
R547Q |
probably benign |
Het |
| Erich5 |
C |
T |
15: 34,471,508 (GRCm39) |
L246F |
probably damaging |
Het |
| Frmpd1 |
C |
T |
4: 45,284,200 (GRCm39) |
A1007V |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,819,687 (GRCm39) |
I5140N |
possibly damaging |
Het |
| Gan |
T |
C |
8: 117,922,586 (GRCm39) |
C440R |
possibly damaging |
Het |
| Garnl3 |
T |
A |
2: 32,944,205 (GRCm39) |
H73L |
possibly damaging |
Het |
| Gid8 |
T |
G |
2: 180,355,096 (GRCm39) |
M34R |
possibly damaging |
Het |
| Gjd4 |
C |
A |
18: 9,280,960 (GRCm39) |
L39F |
possibly damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grhpr |
T |
C |
4: 44,990,427 (GRCm39) |
S306P |
probably damaging |
Het |
| H2bc21 |
A |
G |
3: 96,128,689 (GRCm39) |
I70V |
probably benign |
Het |
| Hdac4 |
T |
G |
1: 91,896,083 (GRCm39) |
K729T |
possibly damaging |
Het |
| Igfbp2 |
C |
T |
1: 72,888,804 (GRCm39) |
H85Y |
probably damaging |
Het |
| Igkv4-61 |
T |
G |
6: 69,394,373 (GRCm39) |
I13L |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,514,013 (GRCm39) |
S73N |
probably benign |
Het |
| Immt |
T |
C |
6: 71,838,024 (GRCm39) |
V244A |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,329,554 (GRCm39) |
V1526A |
probably benign |
Het |
| Jrkl |
A |
T |
9: 13,245,526 (GRCm39) |
I45K |
probably damaging |
Het |
| Lamp3 |
G |
T |
16: 19,474,172 (GRCm39) |
Q401K |
possibly damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,043,180 (GRCm39) |
H528Q |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,220,361 (GRCm39) |
D245E |
probably benign |
Het |
| Mmut |
T |
A |
17: 41,252,274 (GRCm39) |
I272N |
possibly damaging |
Het |
| Mnat1 |
T |
C |
12: 73,277,479 (GRCm39) |
|
probably benign |
Het |
| Mprip |
A |
C |
11: 59,652,016 (GRCm39) |
M1907L |
probably benign |
Het |
| Nfu1 |
C |
A |
6: 86,993,254 (GRCm39) |
H131Q |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,213,580 (GRCm39) |
S670R |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,039 (GRCm39) |
N111D |
probably benign |
Het |
| Or8k40 |
T |
C |
2: 86,585,025 (GRCm39) |
D19G |
probably benign |
Het |
| Pals2 |
C |
T |
6: 50,139,642 (GRCm39) |
P116L |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,839,861 (GRCm39) |
V523E |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,786,777 (GRCm39) |
D631E |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,591,481 (GRCm39) |
|
probably null |
Het |
| Rnf13 |
A |
G |
3: 57,741,033 (GRCm39) |
N274S |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,560,381 (GRCm39) |
Y486F |
probably damaging |
Het |
| Sec14l3 |
A |
T |
11: 4,025,263 (GRCm39) |
H291L |
possibly damaging |
Het |
| Senp5 |
A |
G |
16: 31,802,593 (GRCm39) |
S532P |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,804,550 (GRCm39) |
|
probably null |
Het |
| Serpina1e |
T |
C |
12: 103,914,338 (GRCm39) |
I329V |
probably benign |
Het |
| Slc10a4-ps |
T |
A |
5: 72,743,763 (GRCm39) |
|
probably null |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,773 (GRCm39) |
|
unknown |
Het |
| Smc5 |
A |
G |
19: 23,209,247 (GRCm39) |
V639A |
probably benign |
Het |
| Speg |
T |
A |
1: 75,399,912 (GRCm39) |
V2453E |
probably damaging |
Het |
| Syt2 |
T |
A |
1: 134,671,842 (GRCm39) |
F207I |
probably damaging |
Het |
| Tchp |
C |
T |
5: 114,846,857 (GRCm39) |
S48L |
probably benign |
Het |
| Trim12a |
A |
G |
7: 103,953,383 (GRCm39) |
S243P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,628,561 (GRCm39) |
E14533G |
probably damaging |
Het |
| Vmn1r50 |
T |
A |
6: 90,084,819 (GRCm39) |
M188K |
probably benign |
Het |
| Vps11 |
G |
A |
9: 44,266,376 (GRCm39) |
T437I |
probably damaging |
Het |
| Xrn1 |
C |
T |
9: 95,929,843 (GRCm39) |
T1498I |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
probably null |
Het |
| Zfp316 |
T |
C |
5: 143,249,110 (GRCm39) |
D175G |
unknown |
Het |
| Zmynd11 |
A |
G |
13: 9,744,366 (GRCm39) |
L256P |
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 |
|
|
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 |
|
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'- TTCGGCAGTTGCGGTATAGC -3'
(R):5'- GTAGTTGCTCCCCTGACATTGG -3'
Sequencing Primer
(F):5'- TGCGGTATAGCGAAGGCGTC -3'
(R):5'- TCCCCTGACATTGGAGGTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation