Incidental Mutation 'R4429:Iqcg'
| ID |
328347 |
| 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 |
041699-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32834640-32876617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32839860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 362
(T362I)
|
| 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: T362I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000110752
Gene: ENSMUSG00000035578
AA Change: T362I
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,202,236 (GRCm39) |
T390A |
probably benign |
Het |
| Ahcyl2 |
T |
G |
6: 29,894,874 (GRCm39) |
V452G |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,828,804 (GRCm39) |
N545I |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Catip |
T |
A |
1: 74,407,891 (GRCm39) |
|
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cnpy3 |
T |
A |
17: 47,058,070 (GRCm39) |
Q111L |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,971,120 (GRCm39) |
N2725D |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
| Ephb3 |
G |
A |
16: 21,033,213 (GRCm39) |
E66K |
probably damaging |
Het |
| Gm6594 |
T |
A |
17: 82,846,923 (GRCm39) |
D79E |
probably benign |
Het |
| Gtf2e2 |
T |
A |
8: 34,242,521 (GRCm39) |
Y74* |
probably null |
Het |
| Hacd4 |
A |
T |
4: 88,353,184 (GRCm39) |
F103I |
possibly damaging |
Het |
| Hap1 |
T |
C |
11: 100,245,098 (GRCm39) |
T38A |
probably benign |
Het |
| Havcr2 |
T |
A |
11: 46,347,387 (GRCm39) |
D72E |
probably damaging |
Het |
| Lect2 |
C |
T |
13: 56,693,538 (GRCm39) |
|
probably null |
Het |
| Lemd3 |
T |
C |
10: 120,813,893 (GRCm39) |
T447A |
probably benign |
Het |
| Lrrc72 |
T |
C |
12: 36,258,623 (GRCm39) |
N78S |
probably damaging |
Het |
| Map3k14 |
A |
G |
11: 103,118,410 (GRCm39) |
L592P |
probably damaging |
Het |
| Meioc |
T |
C |
11: 102,566,546 (GRCm39) |
Y721H |
probably damaging |
Het |
| Mrps10 |
T |
A |
17: 47,689,124 (GRCm39) |
|
probably null |
Het |
| Myo5c |
A |
G |
9: 75,201,283 (GRCm39) |
Y1406C |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,702,395 (GRCm39) |
Y2098C |
probably damaging |
Het |
| Nol9 |
C |
T |
4: 152,125,631 (GRCm39) |
T194I |
probably damaging |
Het |
| Nox3 |
G |
A |
17: 3,733,233 (GRCm39) |
T206I |
probably benign |
Het |
| Nsd2 |
T |
G |
5: 34,000,546 (GRCm39) |
M21R |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,820 (GRCm39) |
N327S |
probably damaging |
Het |
| Pclo |
T |
G |
5: 14,728,114 (GRCm39) |
|
probably benign |
Het |
| Pparg |
T |
A |
6: 115,416,984 (GRCm39) |
M59K |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,613,796 (GRCm39) |
K1116R |
probably damaging |
Het |
| Rhbdf1 |
C |
T |
11: 32,163,369 (GRCm39) |
E368K |
probably benign |
Het |
| Rita1 |
A |
G |
5: 120,747,626 (GRCm39) |
V224A |
probably damaging |
Het |
| Rsph6a |
T |
A |
7: 18,807,988 (GRCm39) |
W384R |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,181,329 (GRCm39) |
Y65N |
possibly damaging |
Het |
| Serpina5 |
C |
A |
12: 104,069,665 (GRCm39) |
F292L |
probably benign |
Het |
| Sf3b3 |
A |
C |
8: 111,552,750 (GRCm39) |
L511V |
probably benign |
Het |
| Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
| Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
| Slco6d1 |
T |
C |
1: 98,424,091 (GRCm39) |
V581A |
possibly damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,788,383 (GRCm39) |
Y1121H |
probably damaging |
Het |
| Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
| Timm29 |
G |
C |
9: 21,504,775 (GRCm39) |
A148P |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
| Uba6 |
C |
T |
5: 86,268,406 (GRCm39) |
V941I |
probably damaging |
Het |
| Vmn1r174 |
T |
C |
7: 23,453,565 (GRCm39) |
V77A |
probably benign |
Het |
| Zfp661 |
A |
G |
2: 127,420,628 (GRCm39) |
V57A |
probably damaging |
Het |
| Zfp867 |
C |
T |
11: 59,355,863 (GRCm39) |
D64N |
possibly damaging |
Het |
| Zp3r |
T |
C |
1: 130,519,128 (GRCm39) |
T294A |
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 |
|
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 |
|
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'- GTCTGGACAGAGGATTCCTTCC -3'
(R):5'- GTTTGTTTGAGACATACACTTGCTG -3'
Sequencing Primer
(F):5'- ACCAGGAGGCAGGCTTG -3'
(R):5'- CACTTGCTGTGTGGCGAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation