Incidental Mutation 'RF047:Iqcf4'
| ID |
605052 |
| 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 # |
RF047 (G1)
|
| Quality Score |
175.468 |
|
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) |
CCTTTTCC to CCTTTTCCGTTTCCTTTTCCTTTTCCTTTGCCTTTTGCTTTTCC
at 106447811 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 |
|---|
| Abcb4 |
AAGA |
AA |
5: 8,946,595 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,970 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,976 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
TTATTTAT |
TTATTTATTTCTGTATTTAT |
9: 78,619,809 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
C |
A |
12: 117,973,818 (GRCm39) |
G2832V |
probably damaging |
Het |
| Dnmt1 |
GAGCACAGTTCCTACCTCGTT |
GAGCACAGTTCCTACCTCGTTTTGGGGGCGTAGCACAGTTCCTACCTCGTT |
9: 20,821,421 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,599 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 71,313,659 (GRCm39) |
|
probably benign |
Het |
| Gabre |
C |
CTGGCTA |
X: 71,314,371 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GAGGGAGGA |
GAGGGAGGAAGGCTGGATCCTGGATACCTGGGTCTTAGGGAGGA |
7: 44,149,953 (GRCm39) |
|
probably null |
Het |
| Garin5a |
G |
GCAGGGTGGATCCTGGATACCTGGGTCTGCGGGAGT |
7: 44,149,960 (GRCm39) |
|
probably null |
Het |
| Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,037 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
TGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
5: 25,520,758 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCAACA |
X: 70,162,445 (GRCm39) |
|
probably benign |
Het |
| Mup21 |
TATACTT |
TATACTTTTTAGATACTT |
4: 62,067,582 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GCCTCACCTGGGGACTTG |
GCCTCACCTGGGGACTTGTCCTCACCTGGGGACTTG |
11: 4,891,038 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,700,869 (GRCm39) |
C605Y |
probably damaging |
Het |
| Pnma8a |
TACCTCATGATGCACCTGCTTCAACA |
TACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA |
7: 16,695,348 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,513,520 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
AGCAGCA |
AGCAGCACCAGCCGCAGCA |
5: 28,599,160 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
CAGCAGCAGCAGCA |
CAGCAGCAGCAGCAGCAGCA |
19: 26,608,405 (GRCm39) |
|
probably benign |
Het |
| Strn |
GTGCTCCCTTACCCCAGTC |
GTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCTTGCTCCCTTACCCCAGTC |
17: 78,984,699 (GRCm39) |
|
probably null |
Het |
| Strn |
TCCCTTACCCCAGTC |
TCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCCCCCTTACCCCAGTC |
17: 78,984,703 (GRCm39) |
|
probably null |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,031 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
C |
CAGA |
17: 48,097,041 (GRCm39) |
|
probably benign |
Het |
| Tomm5 |
CATCTTCCG |
CATCTTCCGAATCTTCCG |
4: 45,107,974 (GRCm39) |
|
probably benign |
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 |
|
|
RF063:Iqcf4
|
UTSW |
9 |
106,447,816 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCACACAAGTCTGTTTGGTG -3'
(R):5'- TTGACAGAGATAAGTCCAGCATC -3'
Sequencing Primer
(F):5'- GGTGCATACATTCCATGACCG -3'
(R):5'- GTCCAGCATCTAGGGATACTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation