Incidental Mutation 'IGL02328:Iqcg'
ID |
288547 |
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 # |
IGL02328
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
32834640-32876617 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 32839876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 357
(I357L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023491]
[ENSMUST00000115100]
|
AlphaFold |
Q80W32 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023491
|
SMART Domains |
Protein: ENSMUSP00000023491 Gene: ENSMUSG00000022801
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
LRR
|
104 |
126 |
2.54e1 |
SMART |
LRR
|
127 |
150 |
2.86e-1 |
SMART |
LRR
|
172 |
194 |
4.44e0 |
SMART |
LRR
|
195 |
218 |
4.33e1 |
SMART |
LRR
|
240 |
263 |
2.76e1 |
SMART |
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
CH
|
651 |
754 |
9.24e-15 |
SMART |
low complexity region
|
759 |
774 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105610
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115100
AA Change: I357L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000110752 Gene: ENSMUSG00000035578 AA Change: I357L
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: ENSMUST00000133219
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
A |
13: 81,726,294 (GRCm39) |
N577I |
probably damaging |
Het |
Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
Btk |
G |
A |
X: 133,459,449 (GRCm39) |
P192L |
probably damaging |
Het |
Col12a1 |
T |
A |
9: 79,589,348 (GRCm39) |
Y1069F |
probably damaging |
Het |
Dnah7a |
C |
T |
1: 53,564,096 (GRCm39) |
|
probably null |
Het |
E230025N22Rik |
A |
G |
18: 36,828,667 (GRCm39) |
S4P |
probably damaging |
Het |
Ei24 |
A |
T |
9: 36,696,827 (GRCm39) |
|
probably null |
Het |
Foxred2 |
A |
G |
15: 77,840,032 (GRCm39) |
L86P |
probably damaging |
Het |
Gm3127 |
A |
T |
14: 15,424,989 (GRCm39) |
R42W |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,803,219 (GRCm39) |
Y377C |
probably damaging |
Het |
Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
Itsn1 |
T |
C |
16: 91,612,295 (GRCm39) |
L204P |
probably damaging |
Het |
Kalrn |
T |
C |
16: 34,152,594 (GRCm39) |
N311S |
probably damaging |
Het |
Lmod2 |
A |
G |
6: 24,603,832 (GRCm39) |
D269G |
probably benign |
Het |
Med16 |
A |
G |
10: 79,743,376 (GRCm39) |
S29P |
probably damaging |
Het |
Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,417,433 (GRCm39) |
I3443V |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,297,877 (GRCm39) |
L720I |
probably damaging |
Het |
Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
Or4z4 |
T |
A |
19: 12,076,146 (GRCm39) |
I286F |
probably damaging |
Het |
Or52ab4 |
A |
T |
7: 102,987,497 (GRCm39) |
I79F |
probably damaging |
Het |
Or6c213 |
T |
C |
10: 129,573,895 (GRCm39) |
D297G |
probably benign |
Het |
Or8b1b |
A |
T |
9: 38,375,972 (GRCm39) |
I212F |
probably benign |
Het |
Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
Pitpnm2 |
T |
C |
5: 124,259,477 (GRCm39) |
Q1286R |
probably damaging |
Het |
Scgb2b24 |
A |
G |
7: 33,438,050 (GRCm39) |
|
probably benign |
Het |
Sh2b3 |
T |
C |
5: 121,955,922 (GRCm39) |
D520G |
probably benign |
Het |
Skint4 |
T |
A |
4: 111,977,255 (GRCm39) |
I215N |
possibly damaging |
Het |
Slc24a5 |
A |
G |
2: 124,922,559 (GRCm39) |
D107G |
probably damaging |
Het |
Slit2 |
T |
C |
5: 48,387,646 (GRCm39) |
I549T |
probably damaging |
Het |
Stambp |
A |
G |
6: 83,533,363 (GRCm39) |
L300P |
possibly damaging |
Het |
Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
Tm9sf2 |
T |
G |
14: 122,380,842 (GRCm39) |
V145G |
possibly damaging |
Het |
Tor1aip2 |
G |
T |
1: 155,940,720 (GRCm39) |
C342F |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,206,233 (GRCm39) |
T4823M |
probably damaging |
Het |
Vmn1r80 |
G |
T |
7: 11,927,405 (GRCm39) |
A172S |
probably benign |
Het |
Vmn2r67 |
T |
A |
7: 84,799,898 (GRCm39) |
N447Y |
probably benign |
Het |
Zbtb1 |
A |
G |
12: 76,433,450 (GRCm39) |
N479D |
possibly damaging |
Het |
|
Other mutations in Iqcg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01106:Iqcg
|
APN |
16 |
32,855,970 (GRCm39) |
missense |
possibly damaging |
0.90 |
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 |
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 |
2015-04-16 |