Incidental Mutation 'IGL00321:Carf'
| ID |
13339 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Carf
|
| Ensembl Gene |
ENSMUSG00000026017 |
| Gene Name |
calcium response factor |
| Synonyms |
Als2cr8 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
60137406-60193112 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 60164001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027171]
[ENSMUST00000124986]
[ENSMUST00000130075]
[ENSMUST00000180952]
[ENSMUST00000186107]
[ENSMUST00000187978]
|
| AlphaFold |
Q8VHI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027171
|
| SMART Domains |
Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
227 |
457 |
6.4e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124986
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180952
|
| SMART Domains |
Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186107
|
| SMART Domains |
Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
239 |
255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187978
|
| SMART Domains |
Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele have aberrant learning and memory. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(2) |
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,078,418 (GRCm39) |
I602T |
probably benign |
Het |
| Adam39 |
A |
G |
8: 41,279,783 (GRCm39) |
R725G |
possibly damaging |
Het |
| Arid2 |
A |
G |
15: 96,186,970 (GRCm39) |
E74G |
probably damaging |
Het |
| Cit |
A |
T |
5: 115,984,524 (GRCm39) |
Q32L |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,514 (GRCm39) |
T526A |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,327,202 (GRCm39) |
E717G |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,290,029 (GRCm39) |
I968N |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,296,942 (GRCm39) |
Y297F |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,249,489 (GRCm39) |
L543P |
probably benign |
Het |
| Hid1 |
A |
T |
11: 115,249,895 (GRCm39) |
D84E |
probably benign |
Het |
| Ifit1bl2 |
C |
T |
19: 34,597,319 (GRCm39) |
S99N |
probably benign |
Het |
| Kpna3 |
A |
G |
14: 61,629,302 (GRCm39) |
|
probably benign |
Het |
| Myadm |
C |
A |
7: 3,345,739 (GRCm39) |
P167Q |
possibly damaging |
Het |
| Ociad1 |
C |
T |
5: 73,461,886 (GRCm39) |
|
probably benign |
Het |
| Or2t43 |
A |
C |
11: 58,457,593 (GRCm39) |
Y193D |
probably damaging |
Het |
| Pcdh11x |
A |
T |
X: 119,502,265 (GRCm39) |
K1029N |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,026 (GRCm39) |
T119A |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,592,617 (GRCm39) |
R926G |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,353,651 (GRCm39) |
F369S |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,100,472 (GRCm39) |
M201K |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,802,235 (GRCm39) |
I795N |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,368,261 (GRCm39) |
W510R |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,968,576 (GRCm39) |
L589P |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,572,717 (GRCm39) |
D176G |
probably null |
Het |
| Tom1 |
T |
A |
8: 75,778,802 (GRCm39) |
S24T |
probably benign |
Het |
| Vmn2r66 |
T |
A |
7: 84,656,299 (GRCm39) |
Q239L |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,040 (GRCm39) |
T149A |
probably benign |
Het |
| Zc3h3 |
A |
G |
15: 75,651,162 (GRCm39) |
I686T |
probably damaging |
Het |
|
| Other mutations in Carf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00730:Carf
|
APN |
1 |
60,186,577 (GRCm39) |
nonsense |
probably null |
|
|
IGL00792:Carf
|
APN |
1 |
60,165,168 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL00913:Carf
|
APN |
1 |
60,187,114 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01487:Carf
|
APN |
1 |
60,148,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02214:Carf
|
APN |
1 |
60,187,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03258:Carf
|
APN |
1 |
60,148,388 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03285:Carf
|
APN |
1 |
60,185,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Carf
|
UTSW |
1 |
60,180,627 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4283001:Carf
|
UTSW |
1 |
60,167,161 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0375:Carf
|
UTSW |
1 |
60,183,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0465:Carf
|
UTSW |
1 |
60,171,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Carf
|
UTSW |
1 |
60,165,073 (GRCm39) |
splice site |
probably benign |
|
|
R1158:Carf
|
UTSW |
1 |
60,186,998 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1433:Carf
|
UTSW |
1 |
60,164,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Carf
|
UTSW |
1 |
60,165,065 (GRCm39) |
splice site |
probably benign |
|
|
R1467:Carf
|
UTSW |
1 |
60,167,152 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1467:Carf
|
UTSW |
1 |
60,167,152 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1546:Carf
|
UTSW |
1 |
60,165,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1801:Carf
|
UTSW |
1 |
60,180,664 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1977:Carf
|
UTSW |
1 |
60,185,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Carf
|
UTSW |
1 |
60,148,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Carf
|
UTSW |
1 |
60,186,645 (GRCm39) |
splice site |
probably benign |
|
|
R2198:Carf
|
UTSW |
1 |
60,180,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2238:Carf
|
UTSW |
1 |
60,187,193 (GRCm39) |
missense |
probably benign |
|
|
R2981:Carf
|
UTSW |
1 |
60,178,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4090:Carf
|
UTSW |
1 |
60,175,506 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4573:Carf
|
UTSW |
1 |
60,187,271 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4737:Carf
|
UTSW |
1 |
60,148,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4906:Carf
|
UTSW |
1 |
60,180,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Carf
|
UTSW |
1 |
60,189,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5080:Carf
|
UTSW |
1 |
60,189,772 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5184:Carf
|
UTSW |
1 |
60,147,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5949:Carf
|
UTSW |
1 |
60,178,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Carf
|
UTSW |
1 |
60,187,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6346:Carf
|
UTSW |
1 |
60,180,699 (GRCm39) |
nonsense |
probably null |
|
|
R6886:Carf
|
UTSW |
1 |
60,175,413 (GRCm39) |
splice site |
probably null |
|
|
R7115:Carf
|
UTSW |
1 |
60,187,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Carf
|
UTSW |
1 |
60,148,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7459:Carf
|
UTSW |
1 |
60,167,198 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7755:Carf
|
UTSW |
1 |
60,187,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7809:Carf
|
UTSW |
1 |
60,183,226 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8053:Carf
|
UTSW |
1 |
60,167,197 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8137:Carf
|
UTSW |
1 |
60,187,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8423:Carf
|
UTSW |
1 |
60,189,752 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9155:Carf
|
UTSW |
1 |
60,189,842 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9177:Carf
|
UTSW |
1 |
60,148,558 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9215:Carf
|
UTSW |
1 |
60,189,804 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9268:Carf
|
UTSW |
1 |
60,148,558 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9750:Carf
|
UTSW |
1 |
60,171,158 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Carf
|
UTSW |
1 |
60,175,421 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation