Incidental Mutation 'RF063:Iqcf4'
| ID |
605464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqcf4
|
| Ensembl Gene |
ENSMUSG00000041009 |
| Gene Name |
IQ motif containing F4 |
| Synonyms |
1700042N06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
RF063 (G1)
|
| Quality Score |
116.467 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106445518-106448166 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (12 aa in frame mutation) |
| DNA Base Change (assembly) |
TCCTTTT to TCCTTTTCCTTTTCCTTGTCCTTTTCCTTTTCCTTTGCCTTTT
at 106447816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085111]
|
| AlphaFold |
Q6P8Y2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085111
|
| SMART Domains |
Protein: ENSMUSP00000082192
Gene: ENSMUSG00000041009
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
CAGAAAGGAAAAGGTGGCCAG |
CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,846 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AGAAAGGAAAAGGTGGCCAG |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,847 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
G |
T |
2: 25,337,409 (GRCm39) |
E2421D |
probably damaging |
Het |
| Apc |
A |
AATAAAGCCC |
18: 34,415,062 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
TGGCTGTGGCTG |
TGGCTGTGGCTGCGGCTGTGGCTG |
19: 47,129,695 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
CACA |
C |
4: 149,036,761 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
GTGCCGGTGCCCGT |
G |
12: 40,894,398 (GRCm39) |
|
probably null |
Het |
| F11r |
CCCCCCCCC |
CCCCCCCCCCC |
1: 171,288,758 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
C |
CAGCAGA |
2: 83,643,240 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTACGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GTGCTGGTG |
GTGCTGGTGCGTCTGCTGGTG |
5: 110,526,009 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
AGGCCACCACTGCTCACAGGTGCTGTACCT |
A |
7: 80,373,499 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
GCT |
GCTCCT |
5: 25,520,762 (GRCm39) |
|
probably benign |
Het |
| Lrtm1 |
TAGCCTCAGTGGCC |
T |
14: 28,743,400 (GRCm39) |
|
probably null |
Het |
| Med12l |
AACA |
AACAACA |
3: 59,183,379 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCCGC |
3: 59,183,394 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
C |
CTGCCTCACTCATGGTCCTGTAGAGCAATGGGGATTA |
5: 90,756,801 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
TGTGCC |
TGTGCCCGTGCC |
11: 32,373,051 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
ATACATACATACCT |
AT |
5: 36,311,155 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
CCAG |
CCAGCGATCCTCCCCAGTCCCGCAAGGTCAG |
5: 77,164,273 (GRCm39) |
|
probably benign |
Het |
| Sry |
TGCTGCTGCTGCTGCTG |
T |
Y: 2,662,595 (GRCm39) |
|
probably null |
Het |
| Stard8 |
GAG |
GAGTAG |
X: 98,110,130 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
GATCCCCTTGGC |
GATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGATATCCCCTTGGC |
18: 60,966,645 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCTGCT |
15: 72,673,169 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
CTGCTGCT |
CTGCTGCTGCTGCTGTTGCTGCT |
15: 72,673,173 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
CAGAGCCACCAAGTACCT |
C |
7: 11,581,067 (GRCm39) |
|
probably null |
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 |
|
R4525:Iqcf4
|
UTSW |
9 |
106,447,827 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCTTGCTCACACAAGTC -3'
(R):5'- CAGAGATAAGTCCAGCATCTAGGG -3'
Sequencing Primer
(F):5'- GGTGCATACATTCCATGACCG -3'
(R):5'- GTCCAGCATCTAGGGATACTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation