Incidental Mutation 'R2292:Iqcg'
| ID |
245058 |
| 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 |
040291-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2292 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32834640-32876617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32870253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 80
(V80A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040309]
[ENSMUST00000115100]
|
| AlphaFold |
Q80W32 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000040309
|
| SMART Domains |
Protein: ENSMUSP00000041686
Gene: ENSMUSG00000035578
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105610
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115100
AA Change: V80A
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110752
Gene: ENSMUSG00000035578
AA Change: V80A
| 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: ENSMUST00000126793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231235
|
| Meta Mutation Damage Score |
0.2292 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (44/44) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,562,483 (GRCm39) |
I370T |
probably benign |
Het |
| A2m |
A |
G |
6: 121,650,518 (GRCm39) |
T1209A |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,226,544 (GRCm39) |
Q920R |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,760,743 (GRCm39) |
Y829N |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,476 (GRCm39) |
F530I |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
| Ascc2 |
T |
C |
11: 4,629,352 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,496,632 (GRCm39) |
V2312I |
probably benign |
Het |
| Dctn6 |
T |
C |
8: 34,559,679 (GRCm39) |
T159A |
probably benign |
Het |
| Ddx55 |
G |
T |
5: 124,706,140 (GRCm39) |
A522S |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 72,998,092 (GRCm39) |
T4110I |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Dym |
A |
G |
18: 75,332,283 (GRCm39) |
T504A |
possibly damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,690,579 (GRCm39) |
Y138H |
probably damaging |
Het |
| Fgd4 |
A |
T |
16: 16,253,864 (GRCm39) |
C568S |
possibly damaging |
Het |
| Fkbp4 |
A |
C |
6: 128,413,625 (GRCm39) |
V6G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,127,984 (GRCm39) |
S2299C |
unknown |
Het |
| Gdf2 |
A |
T |
14: 33,667,145 (GRCm39) |
N289I |
possibly damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,051 (GRCm39) |
I300T |
possibly damaging |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
G |
13: 13,915,080 (GRCm39) |
F3258C |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,408,574 (GRCm39) |
E870G |
probably damaging |
Het |
| Mphosph10 |
G |
A |
7: 64,035,519 (GRCm39) |
P384L |
probably damaging |
Het |
| Ncoa4 |
T |
G |
14: 31,895,413 (GRCm39) |
L179R |
probably damaging |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,137,188 (GRCm39) |
|
noncoding transcript |
Het |
| Nwd2 |
A |
T |
5: 63,962,917 (GRCm39) |
M834L |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,468,223 (GRCm39) |
M46K |
probably benign |
Het |
| Or2w6 |
A |
G |
13: 21,843,001 (GRCm39) |
M164T |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,876,685 (GRCm39) |
E266G |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,430,297 (GRCm39) |
|
probably null |
Het |
| Pramel25 |
T |
C |
4: 143,520,446 (GRCm39) |
I66T |
probably benign |
Het |
| Prdm13 |
A |
C |
4: 21,683,914 (GRCm39) |
I119S |
unknown |
Het |
| Tchh |
A |
G |
3: 93,349,689 (GRCm39) |
Y18C |
probably damaging |
Het |
| Tmem192 |
T |
C |
8: 65,411,998 (GRCm39) |
V59A |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,974,916 (GRCm39) |
F92Y |
probably damaging |
Het |
| Trappc11 |
C |
T |
8: 47,958,771 (GRCm39) |
G40D |
probably damaging |
Het |
| Ttc23 |
A |
T |
7: 67,319,535 (GRCm39) |
I132F |
probably benign |
Het |
| Ttc9b |
A |
G |
7: 27,355,405 (GRCm39) |
D225G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,727,604 (GRCm39) |
|
probably benign |
Het |
| Vmn2r75 |
A |
C |
7: 85,798,144 (GRCm39) |
C556W |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,368,097 (GRCm39) |
V595A |
probably 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTTGGCCACAGATCTCAAAG -3'
(R):5'- AGTCGTGGAGTCTCCTTCAGAG -3'
Sequencing Primer
(F):5'- TCTCAAAGAACGGTGACATGGC -3'
(R):5'- TACAACCTGAGGTCACTGTGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation