Incidental Mutation 'R0898:Iqck'
| ID |
83751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqck
|
| Ensembl Gene |
ENSMUSG00000073856 |
| Gene Name |
IQ motif containing K |
| Synonyms |
A230094G09Rik |
| MMRRC Submission |
039058-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0898 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
118454975-118571343 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118570664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 272
(C272Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008878]
[ENSMUST00000098087]
[ENSMUST00000106547]
[ENSMUST00000152136]
[ENSMUST00000208394]
|
| AlphaFold |
D3YYL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008878
|
| SMART Domains |
Protein: ENSMUSP00000008878
Gene: ENSMUSG00000008734
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_3
|
67 |
294 |
2e-33 |
PFAM |
|
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098087
AA Change: C275Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095693
Gene: ENSMUSG00000073856
AA Change: C275Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
111 |
120 |
N/A |
INTRINSIC |
|
IQ
|
219 |
241 |
7.58e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106547
AA Change: C272Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102157
Gene: ENSMUSG00000073856
AA Change: C272Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
117 |
N/A |
INTRINSIC |
|
IQ
|
216 |
238 |
7.58e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208394
|
| Meta Mutation Damage Score |
0.0919 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candidate gene for obsessive-compulsive disorder in a genome-wide association study. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor1 |
T |
A |
1: 134,351,814 (GRCm39) |
|
probably null |
Het |
| Apmap |
A |
G |
2: 150,427,669 (GRCm39) |
|
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,667,221 (GRCm39) |
N442S |
probably benign |
Het |
| Bpifb5 |
C |
T |
2: 154,075,254 (GRCm39) |
A394V |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,025,964 (GRCm39) |
T346A |
possibly damaging |
Het |
| Ccdc154 |
A |
G |
17: 25,383,055 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,373,153 (GRCm39) |
|
probably benign |
Het |
| Cpm |
A |
C |
10: 117,512,011 (GRCm39) |
|
probably benign |
Het |
| Crlf2 |
G |
C |
5: 109,705,004 (GRCm39) |
P67R |
probably damaging |
Het |
| Ddx59 |
T |
C |
1: 136,344,679 (GRCm39) |
Y117H |
probably damaging |
Het |
| Fam241b |
A |
G |
10: 61,944,773 (GRCm39) |
F98L |
probably damaging |
Het |
| Fmn2 |
G |
A |
1: 174,331,026 (GRCm39) |
G472E |
unknown |
Het |
| Gcdh |
T |
C |
8: 85,620,189 (GRCm39) |
H41R |
possibly damaging |
Het |
| Gm7713 |
A |
C |
15: 59,866,290 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb1 |
T |
C |
4: 131,962,093 (GRCm39) |
T189A |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
| Map3k1 |
T |
C |
13: 111,904,490 (GRCm39) |
|
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,510,496 (GRCm39) |
I169V |
probably benign |
Het |
| Or14j8 |
T |
C |
17: 38,263,127 (GRCm39) |
T263A |
probably benign |
Het |
| Or8c20 |
G |
A |
9: 38,260,738 (GRCm39) |
V120M |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,026,111 (GRCm39) |
I569V |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,229,063 (GRCm39) |
T1096S |
possibly damaging |
Het |
| Plscr4 |
A |
C |
9: 92,366,806 (GRCm39) |
D140A |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,479,332 (GRCm39) |
D1331G |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,248,864 (GRCm39) |
T498A |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,013,001 (GRCm39) |
L372I |
possibly damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,246,880 (GRCm39) |
N120S |
probably benign |
Het |
| Sbf2 |
C |
T |
7: 109,970,859 (GRCm39) |
V846I |
possibly damaging |
Het |
| Slc16a7 |
A |
G |
10: 125,069,370 (GRCm39) |
I102T |
possibly damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,254,349 (GRCm39) |
T506A |
probably damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,744,075 (GRCm39) |
T462A |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,224 (GRCm39) |
Y395C |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,923,480 (GRCm39) |
T266A |
probably damaging |
Het |
| Tanc1 |
C |
T |
2: 59,621,132 (GRCm39) |
T317I |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,889,719 (GRCm39) |
S71P |
probably damaging |
Het |
| Tpgs2 |
G |
A |
18: 25,282,207 (GRCm39) |
P115S |
probably damaging |
Het |
| Trmt10a |
C |
T |
3: 137,855,279 (GRCm39) |
P139L |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,143,051 (GRCm39) |
S400G |
probably benign |
Het |
|
| Other mutations in Iqck |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01620:Iqck
|
APN |
7 |
118,476,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02810:Iqck
|
APN |
7 |
118,570,662 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03403:Iqck
|
APN |
7 |
118,475,494 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0541:Iqck
|
UTSW |
7 |
118,514,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Iqck
|
UTSW |
7 |
118,498,880 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0829:Iqck
|
UTSW |
7 |
118,499,111 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2273:Iqck
|
UTSW |
7 |
118,498,880 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2274:Iqck
|
UTSW |
7 |
118,498,880 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2275:Iqck
|
UTSW |
7 |
118,498,880 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2509:Iqck
|
UTSW |
7 |
118,475,505 (GRCm39) |
missense |
probably benign |
|
|
R4033:Iqck
|
UTSW |
7 |
118,540,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6299:Iqck
|
UTSW |
7 |
118,475,485 (GRCm39) |
missense |
unknown |
|
|
R6520:Iqck
|
UTSW |
7 |
118,540,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Iqck
|
UTSW |
7 |
118,514,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Iqck
|
UTSW |
7 |
118,472,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9038:Iqck
|
UTSW |
7 |
118,498,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Iqck
|
UTSW |
7 |
118,540,902 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Iqck
|
UTSW |
7 |
118,540,877 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGGCAATAGATCAGGGTGAATC -3'
(R):5'- TGGCTTCTCGGCAACAAATCCCTC -3'
Sequencing Primer
(F):5'- gtgtgtgtgtgggtggg -3'
(R):5'- CCTCACGTTCAAAGGGTTCTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation