Incidental Mutation 'IGL00792:Carf'
| ID |
13340 |
| 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 # |
IGL00792
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
60137406-60193112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 60165168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 117
(V117L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027171]
[ENSMUST00000124986]
[ENSMUST00000130075]
[ENSMUST00000180952]
[ENSMUST00000186107]
[ENSMUST00000187978]
|
| AlphaFold |
Q8VHI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027171
AA Change: V117L
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: V117L
| 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
AA Change: V152L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: V152L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186107
AA Change: V117L
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017
AA Change: V117L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
239 |
255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187978
AA Change: V152L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: V152L
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,228,790 (GRCm39) |
I346V |
probably benign |
Het |
| Actl7a |
A |
T |
4: 56,743,944 (GRCm39) |
Y157F |
possibly damaging |
Het |
| Adcy9 |
A |
G |
16: 4,106,403 (GRCm39) |
F904L |
probably damaging |
Het |
| Ap1m1 |
A |
G |
8: 73,009,599 (GRCm39) |
D369G |
possibly damaging |
Het |
| Atp23 |
A |
T |
10: 126,736,969 (GRCm39) |
|
probably null |
Het |
| Atp5pd |
A |
G |
11: 115,308,675 (GRCm39) |
|
probably null |
Het |
| Btf3l4 |
G |
A |
4: 108,674,056 (GRCm39) |
S153L |
probably benign |
Het |
| Cntnap1 |
C |
A |
11: 101,069,792 (GRCm39) |
N290K |
probably benign |
Het |
| Dgkb |
G |
A |
12: 38,264,388 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
A |
7: 130,699,337 (GRCm39) |
C989S |
possibly damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,366,939 (GRCm39) |
R591C |
probably damaging |
Het |
| Fam219a |
A |
G |
4: 41,521,684 (GRCm39) |
V74A |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,678,944 (GRCm39) |
|
probably null |
Het |
| Gm13547 |
A |
T |
2: 29,653,417 (GRCm39) |
D85V |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,685,476 (GRCm39) |
S46R |
possibly damaging |
Het |
| Ifih1 |
T |
A |
2: 62,476,214 (GRCm39) |
R21W |
probably damaging |
Het |
| Ift43 |
A |
T |
12: 86,186,840 (GRCm39) |
Q87L |
probably null |
Het |
| Itprid2 |
C |
T |
2: 79,487,807 (GRCm39) |
A630V |
probably benign |
Het |
| Kcnn1 |
G |
A |
8: 71,307,360 (GRCm39) |
L178F |
probably benign |
Het |
| Kel |
G |
T |
6: 41,678,946 (GRCm39) |
N172K |
probably damaging |
Het |
| Krtap3-2 |
A |
T |
11: 99,447,372 (GRCm39) |
Y85* |
probably null |
Het |
| Lrrc49 |
A |
G |
9: 60,595,121 (GRCm39) |
S8P |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,752,902 (GRCm39) |
I20T |
possibly damaging |
Het |
| Pde4d |
A |
G |
13: 110,071,929 (GRCm39) |
K364E |
possibly damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,088,500 (GRCm39) |
K608E |
possibly damaging |
Het |
| Robo4 |
C |
T |
9: 37,319,507 (GRCm39) |
L586F |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,692,416 (GRCm39) |
S191P |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,962,468 (GRCm39) |
H242Q |
probably damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,499,452 (GRCm39) |
N283K |
probably damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,672,649 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
G |
T |
1: 74,650,276 (GRCm39) |
L269F |
probably benign |
Het |
| Thop1 |
T |
A |
10: 80,914,433 (GRCm39) |
L240* |
probably null |
Het |
| Tmem52b |
T |
A |
6: 129,493,704 (GRCm39) |
S106T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,555,970 (GRCm39) |
D30345V |
probably damaging |
Het |
| Vtcn1 |
T |
C |
3: 100,795,663 (GRCm39) |
V210A |
probably damaging |
Het |
| Zfp568 |
A |
G |
7: 29,714,497 (GRCm39) |
R124G |
probably benign |
Het |
|
| Other mutations in Carf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Carf
|
APN |
1 |
60,164,001 (GRCm39) |
splice site |
probably benign |
|
|
IGL00730:Carf
|
APN |
1 |
60,186,577 (GRCm39) |
nonsense |
probably null |
|
|
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