Incidental Mutation 'R3726:Iqcg'
ID |
270810 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqcg
|
Ensembl Gene |
ENSMUSG00000035578 |
Gene Name |
IQ motif containing G |
Synonyms |
2400003L07Rik, esgd12d, repro1, stubby12d, G1-374-12 |
MMRRC Submission |
040717-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3726 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
32834640-32876617 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32849411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 292
(E292K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115100]
|
AlphaFold |
Q80W32 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105610
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115100
AA Change: E292K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110752 Gene: ENSMUSG00000035578 AA Change: E292K
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
|
Meta Mutation Damage Score |
0.1279 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (49/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402K13Rik |
AGAGGAG |
AGAG |
X: 8,971,342 (GRCm39) |
|
probably benign |
Het |
Caap1 |
A |
T |
4: 94,389,380 (GRCm39) |
V318D |
probably damaging |
Het |
Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
Ccsap |
T |
C |
8: 124,586,100 (GRCm39) |
E17G |
possibly damaging |
Het |
Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
Coq3 |
T |
C |
4: 21,892,941 (GRCm39) |
|
probably benign |
Het |
Daam2 |
T |
A |
17: 49,776,766 (GRCm39) |
D773V |
probably damaging |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
Fam50b |
G |
A |
13: 34,930,869 (GRCm39) |
R115H |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,305,248 (GRCm39) |
F83L |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,819,311 (GRCm39) |
A5015S |
possibly damaging |
Het |
Galnt13 |
A |
G |
2: 54,988,669 (GRCm39) |
H497R |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,744,920 (GRCm39) |
C201R |
possibly damaging |
Het |
Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
Gsr |
A |
G |
8: 34,161,565 (GRCm39) |
K124R |
probably benign |
Het |
Hdgf |
T |
C |
3: 87,821,804 (GRCm39) |
S140P |
probably benign |
Het |
Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lonp1 |
A |
G |
17: 56,925,310 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
Ppp3cb |
A |
G |
14: 20,581,010 (GRCm39) |
|
probably null |
Het |
Ptprm |
G |
A |
17: 67,263,855 (GRCm39) |
P464L |
possibly damaging |
Het |
Rars2 |
A |
G |
4: 34,645,787 (GRCm39) |
T235A |
probably benign |
Het |
Rimkla |
A |
T |
4: 119,334,986 (GRCm39) |
|
probably null |
Het |
Rnf216 |
A |
T |
5: 143,013,701 (GRCm39) |
I708N |
probably damaging |
Het |
Six5 |
T |
A |
7: 18,830,855 (GRCm39) |
V494E |
possibly damaging |
Het |
Slc43a2 |
A |
G |
11: 75,433,980 (GRCm39) |
|
probably benign |
Het |
Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
Sptan1 |
G |
A |
2: 29,908,431 (GRCm39) |
D1711N |
possibly damaging |
Het |
Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
Taf1c |
A |
G |
8: 120,329,809 (GRCm39) |
F111L |
probably damaging |
Het |
Thbs1 |
A |
G |
2: 117,945,191 (GRCm39) |
I255V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
Trpm8 |
A |
T |
1: 88,255,918 (GRCm39) |
Y191F |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,844,621 (GRCm39) |
I934V |
probably damaging |
Het |
Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
Vwf |
G |
T |
6: 125,654,911 (GRCm39) |
|
probably benign |
Het |
Wdr53 |
T |
C |
16: 32,075,538 (GRCm39) |
C248R |
probably benign |
Het |
Zfp217 |
A |
G |
2: 169,961,130 (GRCm39) |
V399A |
probably damaging |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATCGTGAGACACCACTGTC -3'
(R):5'- GCCACACAATAGCTCTGTCAG -3'
Sequencing Primer
(F):5'- CCCCCAGGAGTTATAATTGCGAG -3'
(R):5'- CAATAGCTCTGTCAGGAAGCCTTG -3'
|
Posted On |
2015-03-18 |