Incidental Mutation 'IGL02214:Carf'
ID |
284787 |
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 # |
IGL02214
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
60137406-60193112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 60187240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 579
(D579E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027171]
[ENSMUST00000130075]
[ENSMUST00000180952]
[ENSMUST00000186107]
[ENSMUST00000187978]
|
AlphaFold |
Q8VHI4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027171
AA Change: D579E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000027171 Gene: ENSMUSG00000026017 AA Change: D579E
Domain | Start | End | E-Value | Type |
Pfam:ALS2CR8
|
227 |
457 |
6.4e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130075
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132949
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180952
AA Change: D614E
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000137825 Gene: ENSMUSG00000026017 AA Change: D614E
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
AA Change: D614E
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000141169 Gene: ENSMUSG00000026017 AA Change: D614E
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
T |
C |
2: 32,464,736 (GRCm39) |
|
probably benign |
Het |
A330008L17Rik |
T |
A |
8: 100,148,390 (GRCm39) |
|
noncoding transcript |
Het |
A930004D18Rik |
A |
G |
2: 18,032,067 (GRCm39) |
L17P |
unknown |
Het |
Abca14 |
A |
T |
7: 119,893,398 (GRCm39) |
M1283L |
probably benign |
Het |
Adarb1 |
A |
T |
10: 77,158,135 (GRCm39) |
V104E |
probably damaging |
Het |
Ano1 |
T |
A |
7: 144,209,445 (GRCm39) |
N252Y |
possibly damaging |
Het |
Atp6v0a1 |
A |
G |
11: 100,930,666 (GRCm39) |
S498G |
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,178,043 (GRCm39) |
V1942A |
probably benign |
Het |
Cltc |
A |
T |
11: 86,623,412 (GRCm39) |
S200R |
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,021,805 (GRCm39) |
S113G |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Ehd3 |
T |
A |
17: 74,127,541 (GRCm39) |
L158H |
probably damaging |
Het |
Etfa |
C |
A |
9: 55,372,095 (GRCm39) |
G289W |
probably damaging |
Het |
Fndc3c1 |
G |
A |
X: 105,469,435 (GRCm39) |
T1029I |
probably benign |
Het |
Gipr |
C |
A |
7: 18,891,471 (GRCm39) |
G402V |
possibly damaging |
Het |
Hacd1 |
C |
T |
2: 14,031,758 (GRCm39) |
V242M |
probably damaging |
Het |
Hecw1 |
A |
G |
13: 14,474,978 (GRCm39) |
L520P |
probably damaging |
Het |
Ibtk |
A |
T |
9: 85,596,232 (GRCm39) |
|
probably benign |
Het |
Igkv16-104 |
A |
C |
6: 68,402,778 (GRCm39) |
I24L |
probably benign |
Het |
Kcnh8 |
A |
T |
17: 53,184,939 (GRCm39) |
Y407F |
possibly damaging |
Het |
Mansc1 |
C |
T |
6: 134,587,323 (GRCm39) |
V285M |
probably benign |
Het |
Mindy4 |
A |
G |
6: 55,193,636 (GRCm39) |
R110G |
possibly damaging |
Het |
Morn1 |
C |
T |
4: 155,176,776 (GRCm39) |
H100Y |
probably damaging |
Het |
Naip6 |
A |
T |
13: 100,452,567 (GRCm39) |
S165T |
probably damaging |
Het |
Or13a24 |
A |
T |
7: 140,154,470 (GRCm39) |
R135* |
probably null |
Het |
Or5aq1 |
T |
G |
2: 86,965,849 (GRCm39) |
K272T |
probably damaging |
Het |
Prx |
G |
T |
7: 27,218,337 (GRCm39) |
R946M |
probably damaging |
Het |
Ptchd1 |
A |
G |
X: 154,356,706 (GRCm39) |
V833A |
possibly damaging |
Het |
Rgl2 |
A |
G |
17: 34,154,163 (GRCm39) |
D481G |
probably benign |
Het |
Serpinb3a |
A |
G |
1: 106,976,218 (GRCm39) |
|
probably null |
Het |
Shtn1 |
T |
C |
19: 58,988,318 (GRCm39) |
|
probably benign |
Het |
Slco1a7 |
T |
A |
6: 141,668,911 (GRCm39) |
D507V |
possibly damaging |
Het |
Sult1b1 |
C |
T |
5: 87,682,949 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,923,106 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
C |
T |
15: 72,884,731 (GRCm39) |
W416* |
probably null |
Het |
Ubr4 |
T |
C |
4: 139,155,894 (GRCm39) |
Y2240H |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,189,138 (GRCm39) |
|
probably null |
Het |
Vmn2r76 |
A |
C |
7: 85,879,138 (GRCm39) |
F387L |
probably benign |
Het |
Vps8 |
G |
A |
16: 21,336,035 (GRCm39) |
C729Y |
probably damaging |
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 |
|
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 |
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 |
2015-04-16 |