Incidental Mutation 'IGL01106:Iqcg'
ID |
52928 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Iqcg
|
Ensembl Gene |
ENSMUSG00000035578 |
Gene Name |
IQ motif containing G |
Synonyms |
2400003L07Rik, esgd12d, repro1, stubby12d, G1-374-12 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01106
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
32834640-32876617 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32855970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 202
(I202L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115100]
|
AlphaFold |
Q80W32 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105610
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115100
AA Change: I202L
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110752 Gene: ENSMUSG00000035578 AA Change: I202L
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
50 |
N/A |
INTRINSIC |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
329 |
N/A |
INTRINSIC |
IQ
|
371 |
393 |
1.54e-2 |
SMART |
low complexity region
|
399 |
419 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231235
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous male mice are infertile and have very low epididymal sperm concentration with low motility, predominantly appearing as sperm heads without tails or with short tails. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg13 |
T |
C |
2: 91,526,297 (GRCm39) |
D12G |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,221,120 (GRCm39) |
L3163P |
probably damaging |
Het |
Cntn2 |
A |
G |
1: 132,449,622 (GRCm39) |
|
probably benign |
Het |
Ddx23 |
C |
T |
15: 98,548,821 (GRCm39) |
R327Q |
probably benign |
Het |
Dlec1 |
G |
A |
9: 118,931,853 (GRCm39) |
E91K |
probably benign |
Het |
Fam13c |
T |
C |
10: 70,284,646 (GRCm39) |
|
probably null |
Het |
Fbn1 |
T |
C |
2: 125,193,626 (GRCm39) |
T1398A |
possibly damaging |
Het |
Frem1 |
T |
C |
4: 82,840,494 (GRCm39) |
T1793A |
probably benign |
Het |
Gprc5b |
T |
C |
7: 118,583,084 (GRCm39) |
K262E |
probably benign |
Het |
Hadh |
A |
T |
3: 131,034,619 (GRCm39) |
Y226N |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,383,720 (GRCm39) |
|
probably benign |
Het |
Ikbke |
A |
G |
1: 131,187,792 (GRCm39) |
|
probably benign |
Het |
Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
Kcna3 |
A |
G |
3: 106,945,180 (GRCm39) |
E481G |
possibly damaging |
Het |
Kdm1a |
A |
G |
4: 136,299,639 (GRCm39) |
|
probably benign |
Het |
Klhdc8a |
A |
T |
1: 132,232,438 (GRCm39) |
S321C |
probably benign |
Het |
Kntc1 |
A |
G |
5: 123,900,666 (GRCm39) |
K255E |
probably benign |
Het |
Lhfpl4 |
T |
A |
6: 113,170,824 (GRCm39) |
T121S |
probably benign |
Het |
Lsm11 |
G |
A |
11: 45,824,490 (GRCm39) |
Q346* |
probably null |
Het |
Mcoln3 |
A |
G |
3: 145,843,019 (GRCm39) |
T368A |
probably benign |
Het |
Nlrp4g |
A |
T |
9: 124,350,452 (GRCm38) |
|
noncoding transcript |
Het |
Nol8 |
A |
G |
13: 49,807,957 (GRCm39) |
I58V |
possibly damaging |
Het |
Or5al6 |
C |
T |
2: 85,976,560 (GRCm39) |
V173M |
probably benign |
Het |
Phactr4 |
A |
G |
4: 132,098,116 (GRCm39) |
F384S |
probably benign |
Het |
Prkg1 |
T |
A |
19: 30,562,678 (GRCm39) |
I509L |
probably benign |
Het |
Rims1 |
T |
A |
1: 22,449,671 (GRCm39) |
D1019V |
probably damaging |
Het |
Sclt1 |
T |
C |
3: 41,629,754 (GRCm39) |
|
probably benign |
Het |
Sntg2 |
T |
A |
12: 30,307,987 (GRCm39) |
K233* |
probably null |
Het |
Syt5 |
T |
C |
7: 4,544,156 (GRCm39) |
T295A |
probably damaging |
Het |
|
Other mutations in Iqcg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01155:Iqcg
|
APN |
16 |
32,861,245 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01602:Iqcg
|
APN |
16 |
32,837,348 (GRCm39) |
unclassified |
probably benign |
|
IGL01605:Iqcg
|
APN |
16 |
32,837,348 (GRCm39) |
unclassified |
probably benign |
|
IGL02243:Iqcg
|
APN |
16 |
32,865,962 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02328:Iqcg
|
APN |
16 |
32,839,876 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02490:Iqcg
|
APN |
16 |
32,855,937 (GRCm39) |
nonsense |
probably null |
|
IGL03297:Iqcg
|
APN |
16 |
32,856,002 (GRCm39) |
splice site |
probably benign |
|
R0038:Iqcg
|
UTSW |
16 |
32,866,012 (GRCm39) |
missense |
probably benign |
0.03 |
R0453:Iqcg
|
UTSW |
16 |
32,870,213 (GRCm39) |
splice site |
probably benign |
|
R0719:Iqcg
|
UTSW |
16 |
32,861,215 (GRCm39) |
missense |
probably benign |
0.26 |
R1191:Iqcg
|
UTSW |
16 |
32,870,313 (GRCm39) |
missense |
probably benign |
0.43 |
R1544:Iqcg
|
UTSW |
16 |
32,865,895 (GRCm39) |
missense |
probably benign |
0.01 |
R2292:Iqcg
|
UTSW |
16 |
32,870,253 (GRCm39) |
missense |
probably benign |
0.25 |
R3725:Iqcg
|
UTSW |
16 |
32,840,909 (GRCm39) |
splice site |
probably null |
|
R3726:Iqcg
|
UTSW |
16 |
32,849,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Iqcg
|
UTSW |
16 |
32,873,996 (GRCm39) |
unclassified |
probably benign |
|
R3732:Iqcg
|
UTSW |
16 |
32,873,996 (GRCm39) |
unclassified |
probably benign |
|
R3733:Iqcg
|
UTSW |
16 |
32,873,996 (GRCm39) |
unclassified |
probably benign |
|
R3734:Iqcg
|
UTSW |
16 |
32,873,996 (GRCm39) |
unclassified |
probably benign |
|
R3770:Iqcg
|
UTSW |
16 |
32,870,378 (GRCm39) |
synonymous |
silent |
|
R4296:Iqcg
|
UTSW |
16 |
32,837,345 (GRCm39) |
unclassified |
probably benign |
|
R4409:Iqcg
|
UTSW |
16 |
32,865,888 (GRCm39) |
critical splice donor site |
probably null |
|
R4410:Iqcg
|
UTSW |
16 |
32,851,186 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4429:Iqcg
|
UTSW |
16 |
32,839,860 (GRCm39) |
missense |
probably benign |
0.02 |
R4603:Iqcg
|
UTSW |
16 |
32,861,133 (GRCm39) |
critical splice donor site |
probably null |
|
R4603:Iqcg
|
UTSW |
16 |
32,861,134 (GRCm39) |
missense |
probably null |
0.68 |
R4979:Iqcg
|
UTSW |
16 |
32,839,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R5672:Iqcg
|
UTSW |
16 |
32,839,878 (GRCm39) |
missense |
probably damaging |
0.99 |
R6183:Iqcg
|
UTSW |
16 |
32,851,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R6965:Iqcg
|
UTSW |
16 |
32,851,174 (GRCm39) |
missense |
probably benign |
0.06 |
R8135:Iqcg
|
UTSW |
16 |
32,849,394 (GRCm39) |
missense |
probably benign |
0.20 |
R9260:Iqcg
|
UTSW |
16 |
32,855,973 (GRCm39) |
nonsense |
probably null |
|
R9505:Iqcg
|
UTSW |
16 |
32,861,247 (GRCm39) |
missense |
probably benign |
0.42 |
Z1177:Iqcg
|
UTSW |
16 |
32,849,390 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-06-21 |