Incidental Mutation 'R4525:Iqcf4'
| ID |
334415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqcf4
|
| Ensembl Gene |
ENSMUSG00000041009 |
| Gene Name |
IQ motif containing F4 |
| Synonyms |
1700042N06Rik |
| MMRRC Submission |
041767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R4525 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106445518-106448166 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106447827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 27
(Q27H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085111]
|
| AlphaFold |
Q6P8Y2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085111
AA Change: Q27H
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000082192
Gene: ENSMUSG00000041009
AA Change: Q27H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
14 |
41 |
N/A |
INTRINSIC |
|
IQ
|
66 |
88 |
2.72e-3 |
SMART |
|
IQ
|
89 |
111 |
2.32e2 |
SMART |
|
IQ
|
122 |
144 |
9.33e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
A |
G |
2: 32,464,388 (GRCm39) |
|
probably benign |
Het |
| Ampd1 |
T |
C |
3: 103,002,049 (GRCm39) |
V510A |
probably damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,609 (GRCm39) |
Y495C |
probably damaging |
Het |
| Asap2 |
G |
A |
12: 21,279,293 (GRCm39) |
|
probably null |
Het |
| Cd47 |
T |
C |
16: 49,688,155 (GRCm39) |
V25A |
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,802,906 (GRCm39) |
F139L |
possibly damaging |
Het |
| Cpne3 |
G |
T |
4: 19,523,206 (GRCm39) |
P527H |
probably damaging |
Het |
| Erbin |
T |
C |
13: 103,993,600 (GRCm39) |
I347V |
probably benign |
Het |
| Gm17542 |
T |
C |
10: 58,549,435 (GRCm39) |
D31G |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,309,289 (GRCm39) |
C510S |
probably benign |
Het |
| Hnrnpk |
A |
G |
13: 58,541,696 (GRCm39) |
|
probably benign |
Het |
| Kcna4 |
C |
A |
2: 107,125,410 (GRCm39) |
T48K |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,444,608 (GRCm39) |
C336S |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,796,387 (GRCm39) |
T306A |
probably benign |
Het |
| Oplah |
G |
T |
15: 76,189,709 (GRCm39) |
L176M |
probably damaging |
Het |
| Pon1 |
T |
C |
6: 5,177,412 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,966 (GRCm39) |
I3932T |
probably damaging |
Het |
| Shank1 |
A |
T |
7: 44,004,014 (GRCm39) |
H1902L |
possibly damaging |
Het |
| Sipa1 |
T |
A |
19: 5,701,985 (GRCm39) |
Q947L |
probably benign |
Het |
| Slit2 |
G |
T |
5: 48,407,215 (GRCm39) |
C882F |
probably damaging |
Het |
| Speer4a1 |
A |
T |
5: 26,244,341 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
G |
1: 174,034,676 (GRCm39) |
D1035G |
probably null |
Het |
| Tas2r140 |
T |
C |
6: 133,032,207 (GRCm39) |
T184A |
possibly damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Tmem161b |
T |
C |
13: 84,405,921 (GRCm39) |
I50T |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,561,397 (GRCm39) |
N628D |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,779,005 (GRCm39) |
T102A |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,787 (GRCm39) |
N563K |
probably damaging |
Het |
|
| Other mutations in Iqcf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Iqcf4
|
APN |
9 |
106,447,832 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0781:Iqcf4
|
UTSW |
9 |
106,445,860 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1764:Iqcf4
|
UTSW |
9 |
106,445,893 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4703:Iqcf4
|
UTSW |
9 |
106,445,519 (GRCm39) |
splice site |
probably null |
|
|
R5823:Iqcf4
|
UTSW |
9 |
106,445,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6298:Iqcf4
|
UTSW |
9 |
106,445,874 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7773:Iqcf4
|
UTSW |
9 |
106,445,812 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7780:Iqcf4
|
UTSW |
9 |
106,445,860 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7818:Iqcf4
|
UTSW |
9 |
106,447,738 (GRCm39) |
nonsense |
probably null |
|
|
R8694:Iqcf4
|
UTSW |
9 |
106,448,111 (GRCm39) |
start gained |
probably benign |
|
|
R9435:Iqcf4
|
UTSW |
9 |
106,445,652 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
RF003:Iqcf4
|
UTSW |
9 |
106,447,806 (GRCm39) |
small insertion |
probably benign |
|
|
RF007:Iqcf4
|
UTSW |
9 |
106,447,808 (GRCm39) |
small insertion |
probably benign |
|
|
RF016:Iqcf4
|
UTSW |
9 |
106,447,808 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Iqcf4
|
UTSW |
9 |
106,447,813 (GRCm39) |
small insertion |
probably benign |
|
|
RF031:Iqcf4
|
UTSW |
9 |
106,447,814 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Iqcf4
|
UTSW |
9 |
106,447,810 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Iqcf4
|
UTSW |
9 |
106,447,812 (GRCm39) |
nonsense |
probably null |
|
|
RF042:Iqcf4
|
UTSW |
9 |
106,447,804 (GRCm39) |
small insertion |
probably benign |
|
|
RF043:Iqcf4
|
UTSW |
9 |
106,447,812 (GRCm39) |
small insertion |
probably benign |
|
|
RF045:Iqcf4
|
UTSW |
9 |
106,447,809 (GRCm39) |
small insertion |
probably benign |
|
|
RF046:Iqcf4
|
UTSW |
9 |
106,447,809 (GRCm39) |
small insertion |
probably benign |
|
|
RF047:Iqcf4
|
UTSW |
9 |
106,447,811 (GRCm39) |
small insertion |
probably benign |
|
|
RF063:Iqcf4
|
UTSW |
9 |
106,447,816 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCACACAAGTCTGTTTGGTGC -3'
(R):5'- ACAATTGACAGAGATAAGTCCAGC -3'
Sequencing Primer
(F):5'- GGTGCATACATTCCATGACCG -3'
(R):5'- GTCCAGCATCTAGGGATACTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation