Incidental Mutation 'R8865:Irs1'
ID |
675835 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irs1
|
Ensembl Gene |
ENSMUSG00000055980 |
Gene Name |
insulin receptor substrate 1 |
Synonyms |
G972R, IRS-1 |
MMRRC Submission |
068681-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.620)
|
Stock # |
R8865 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 82265830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 795
(Y795*)
|
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: Y795*
|
SMART Domains |
Protein: ENSMUSP00000063795 Gene: ENSMUSG00000055980 AA Change: Y795*
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 |
0.9757 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (72/72) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
T |
A |
11: 50,672,571 (GRCm39) |
Y606* |
probably null |
Het |
Adgrb1 |
A |
G |
15: 74,415,507 (GRCm39) |
I696V |
possibly damaging |
Het |
Ass1 |
A |
G |
2: 31,410,407 (GRCm39) |
Q406R |
probably benign |
Het |
Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
Ccdc148 |
T |
C |
2: 58,719,832 (GRCm39) |
K409R |
possibly damaging |
Het |
Ccnl1 |
A |
T |
3: 65,854,269 (GRCm39) |
S451T |
probably benign |
Het |
Cdc123 |
T |
C |
2: 5,800,235 (GRCm39) |
|
probably benign |
Het |
Cep192 |
T |
C |
18: 67,967,703 (GRCm39) |
V729A |
probably benign |
Het |
Chd6 |
G |
A |
2: 160,862,989 (GRCm39) |
A444V |
probably benign |
Het |
Chl1 |
A |
G |
6: 103,685,822 (GRCm39) |
K898E |
probably damaging |
Het |
Chrng |
T |
C |
1: 87,135,219 (GRCm39) |
V154A |
probably damaging |
Het |
Cog1 |
T |
G |
11: 113,549,324 (GRCm39) |
M799R |
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,647,483 (GRCm39) |
|
probably null |
Het |
Coro6 |
C |
A |
11: 77,359,917 (GRCm39) |
T366K |
probably damaging |
Het |
Cwh43 |
G |
A |
5: 73,598,702 (GRCm39) |
M640I |
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 39,019,878 (GRCm39) |
E272G |
probably benign |
Het |
Cyp4f39 |
A |
G |
17: 32,702,271 (GRCm39) |
Y256C |
probably damaging |
Het |
Dbx2 |
G |
A |
15: 95,530,281 (GRCm39) |
R229* |
probably null |
Het |
Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
En1 |
G |
T |
1: 120,530,729 (GRCm39) |
|
probably benign |
Het |
F3 |
T |
A |
3: 121,523,060 (GRCm39) |
V90E |
probably damaging |
Het |
Fam171a1 |
A |
G |
2: 3,226,940 (GRCm39) |
K691R |
probably damaging |
Het |
Foxp2 |
C |
T |
6: 15,415,093 (GRCm39) |
A609V |
unknown |
Het |
Hemgn |
A |
T |
4: 46,396,682 (GRCm39) |
S185T |
possibly damaging |
Het |
Hk1 |
C |
T |
10: 62,151,294 (GRCm39) |
D33N |
probably benign |
Het |
Igfbp1 |
T |
A |
11: 7,151,929 (GRCm39) |
V244D |
probably damaging |
Het |
Insr |
A |
T |
8: 3,211,358 (GRCm39) |
D1160E |
probably damaging |
Het |
Krtap28-10 |
T |
C |
1: 83,019,808 (GRCm39) |
K111E |
unknown |
Het |
Lbx1 |
T |
G |
19: 45,223,605 (GRCm39) |
D21A |
probably benign |
Het |
Map6 |
G |
T |
7: 98,918,192 (GRCm39) |
A322S |
probably benign |
Het |
Mat1a |
T |
C |
14: 40,843,788 (GRCm39) |
Y336H |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 12,930,003 (GRCm39) |
I8V |
probably benign |
Het |
Med12l |
T |
C |
3: 58,979,303 (GRCm39) |
V276A |
probably benign |
Het |
Mettl17 |
A |
G |
14: 52,122,308 (GRCm39) |
|
probably benign |
Het |
Mllt1 |
T |
C |
17: 57,207,295 (GRCm39) |
D183G |
possibly damaging |
Het |
Msmb |
T |
A |
14: 31,872,217 (GRCm39) |
C69* |
probably null |
Het |
Mterf1a |
A |
G |
5: 3,941,425 (GRCm39) |
S148P |
probably damaging |
Het |
Mybl2 |
A |
G |
2: 162,922,653 (GRCm39) |
I583V |
probably benign |
Het |
Nbr1 |
T |
A |
11: 101,455,520 (GRCm39) |
D91E |
probably benign |
Het |
Notch3 |
A |
G |
17: 32,341,090 (GRCm39) |
Y2221H |
probably benign |
Het |
Npat |
C |
A |
9: 53,481,940 (GRCm39) |
T1216N |
probably benign |
Het |
Or14j6 |
T |
C |
17: 38,215,115 (GRCm39) |
L226P |
probably damaging |
Het |
Or2j3 |
T |
A |
17: 38,615,872 (GRCm39) |
H160L |
probably damaging |
Het |
Or8k35 |
C |
A |
2: 86,424,744 (GRCm39) |
V143F |
possibly damaging |
Het |
Pawr |
T |
A |
10: 108,218,603 (GRCm39) |
Y170N |
probably damaging |
Het |
Pde12 |
T |
C |
14: 26,390,280 (GRCm39) |
D143G |
possibly damaging |
Het |
Phactr2 |
A |
G |
10: 13,129,476 (GRCm39) |
I264T |
probably benign |
Het |
Pip5k1b |
A |
G |
19: 24,374,422 (GRCm39) |
L53P |
probably damaging |
Het |
Pknox1 |
T |
C |
17: 31,818,520 (GRCm39) |
I251T |
probably benign |
Het |
Plcxd1 |
A |
T |
5: 110,249,841 (GRCm39) |
|
probably benign |
Het |
Polr3c |
C |
T |
3: 96,622,517 (GRCm39) |
|
probably benign |
Het |
Pramel4 |
G |
C |
4: 143,795,052 (GRCm39) |
G483R |
probably damaging |
Het |
Prdm10 |
T |
C |
9: 31,238,693 (GRCm39) |
L195P |
probably damaging |
Het |
Prss16 |
A |
T |
13: 22,187,175 (GRCm39) |
L465Q |
possibly damaging |
Het |
Psg25 |
G |
T |
7: 18,263,519 (GRCm39) |
H101Q |
possibly damaging |
Het |
Pstpip2 |
A |
G |
18: 77,934,108 (GRCm39) |
D55G |
possibly damaging |
Het |
Rfc1 |
A |
T |
5: 65,436,135 (GRCm39) |
D636E |
possibly damaging |
Het |
Scarf2 |
G |
T |
16: 17,620,974 (GRCm39) |
C214F |
probably damaging |
Het |
Sirt4 |
T |
C |
5: 115,620,704 (GRCm39) |
E156G |
probably damaging |
Het |
Spag6 |
C |
T |
2: 18,738,928 (GRCm39) |
S286L |
probably benign |
Het |
Stx17 |
T |
A |
4: 48,183,444 (GRCm39) |
H267Q |
unknown |
Het |
Tekt3 |
T |
C |
11: 62,961,058 (GRCm39) |
C76R |
probably benign |
Het |
Tln1 |
A |
T |
4: 43,538,281 (GRCm39) |
V1807E |
possibly damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,396,372 (GRCm39) |
D552G |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,560,664 (GRCm39) |
V29246L |
possibly damaging |
Het |
Usp43 |
C |
A |
11: 67,789,788 (GRCm39) |
C252F |
probably damaging |
Het |
Vmn2r16 |
T |
C |
5: 109,487,910 (GRCm39) |
I261T |
probably benign |
Het |
Vwa5b1 |
T |
C |
4: 138,308,530 (GRCm39) |
E769G |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,873,246 (GRCm39) |
F670Y |
probably benign |
Het |
Ypel1 |
T |
C |
16: 16,915,269 (GRCm39) |
N113S |
probably benign |
Het |
Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
Zdhhc14 |
A |
T |
17: 5,775,570 (GRCm39) |
Y274F |
possibly damaging |
Het |
Zeb2 |
T |
A |
2: 44,886,139 (GRCm39) |
M973L |
probably benign |
Het |
Zfp638 |
T |
C |
6: 83,954,035 (GRCm39) |
V1380A |
possibly 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 |
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 |
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'- AAGGTGCTTGCCTTGGGATC -3'
(R):5'- GCACAGGTGACTACATGAACATG -3'
Sequencing Primer
(F):5'- ACAGCCTTGTGGGTCGAG -3'
(R):5'- ATGAACATGTCCCCAGTGG -3'
|
Posted On |
2021-07-15 |