Incidental Mutation 'R0375:Carf'
ID |
30668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Carf
|
Ensembl Gene |
ENSMUSG00000026017 |
Gene Name |
calcium response factor |
Synonyms |
Als2cr8 |
MMRRC Submission |
038581-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0375 (G1)
|
Quality Score |
200 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
60137406-60193112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60183161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 386
(V386A)
|
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: V386A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027171 Gene: ENSMUSG00000026017 AA Change: V386A
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 damaging
Transcript: ENSMUST00000180952
AA Change: V421A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137825 Gene: ENSMUSG00000026017 AA Change: V421A
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 |
noncoding transcript
Transcript: ENSMUST00000186779
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187978
AA Change: V421A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141169 Gene: ENSMUSG00000026017 AA Change: V421A
Domain | Start | End | E-Value | Type |
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
Meta Mutation Damage Score |
0.3639 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
Validation Efficiency |
100% (61/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730522E02Rik |
T |
A |
11: 25,719,092 (GRCm39) |
Y17F |
unknown |
Het |
Aars2 |
A |
G |
17: 45,825,476 (GRCm39) |
D313G |
probably damaging |
Het |
Abca9 |
A |
T |
11: 110,006,273 (GRCm39) |
D1277E |
probably benign |
Het |
Adgrl1 |
G |
T |
8: 84,661,530 (GRCm39) |
A981S |
probably damaging |
Het |
Aff3 |
T |
G |
1: 38,244,021 (GRCm39) |
K917Q |
possibly damaging |
Het |
BC049715 |
A |
T |
6: 136,816,994 (GRCm39) |
H78L |
probably benign |
Het |
Bltp1 |
C |
T |
3: 37,100,401 (GRCm39) |
T4707I |
probably damaging |
Het |
Cacna1g |
C |
A |
11: 94,301,880 (GRCm39) |
A2027S |
possibly damaging |
Het |
Camk1g |
G |
A |
1: 193,038,709 (GRCm39) |
|
probably benign |
Het |
Cd46 |
A |
G |
1: 194,768,472 (GRCm39) |
S82P |
probably benign |
Het |
Clic5 |
A |
G |
17: 44,581,510 (GRCm39) |
E180G |
possibly damaging |
Het |
Col27a1 |
A |
G |
4: 63,143,898 (GRCm39) |
T529A |
probably benign |
Het |
Col7a1 |
C |
T |
9: 108,809,305 (GRCm39) |
R2627C |
unknown |
Het |
Cuzd1 |
G |
A |
7: 130,913,637 (GRCm39) |
|
probably benign |
Het |
Cwc27 |
T |
C |
13: 104,944,331 (GRCm39) |
D50G |
possibly damaging |
Het |
Dhx38 |
A |
G |
8: 110,281,813 (GRCm39) |
V735A |
possibly damaging |
Het |
Dhx57 |
T |
G |
17: 80,565,550 (GRCm39) |
E834A |
probably damaging |
Het |
Dsg4 |
A |
G |
18: 20,603,936 (GRCm39) |
D801G |
probably damaging |
Het |
Dtx1 |
T |
C |
5: 120,819,464 (GRCm39) |
E578G |
probably damaging |
Het |
F830016B08Rik |
A |
T |
18: 60,433,265 (GRCm39) |
H116L |
probably damaging |
Het |
Fbxw18 |
T |
C |
9: 109,517,907 (GRCm39) |
I360V |
possibly damaging |
Het |
Fignl2 |
G |
A |
15: 100,951,974 (GRCm39) |
P103S |
probably benign |
Het |
Frmpd1 |
A |
G |
4: 45,284,196 (GRCm39) |
T1006A |
probably benign |
Het |
Ggnbp2 |
G |
T |
11: 84,727,200 (GRCm39) |
C545* |
probably null |
Het |
Gm3336 |
A |
G |
8: 71,171,294 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
T |
C |
6: 25,669,290 (GRCm39) |
N518S |
probably benign |
Het |
Hbs1l |
T |
A |
10: 21,218,440 (GRCm39) |
D312E |
possibly damaging |
Het |
Hoxd10 |
C |
A |
2: 74,523,064 (GRCm39) |
S247R |
probably benign |
Het |
Ifnb1 |
A |
T |
4: 88,440,981 (GRCm39) |
F11I |
probably benign |
Het |
Marf1 |
T |
C |
16: 13,969,184 (GRCm39) |
|
probably benign |
Het |
Myo1f |
T |
A |
17: 33,820,930 (GRCm39) |
V879E |
probably benign |
Het |
Naip1 |
A |
G |
13: 100,545,656 (GRCm39) |
F1291L |
probably benign |
Het |
Nckap1l |
A |
G |
15: 103,382,586 (GRCm39) |
E529G |
probably damaging |
Het |
Npm3 |
T |
C |
19: 45,736,668 (GRCm39) |
E157G |
probably damaging |
Het |
Or10x4 |
A |
G |
1: 174,218,775 (GRCm39) |
T47A |
probably damaging |
Het |
Or4a67 |
T |
A |
2: 88,597,985 (GRCm39) |
T225S |
possibly damaging |
Het |
Or4a68 |
G |
T |
2: 89,269,740 (GRCm39) |
N294K |
probably benign |
Het |
Pex16 |
G |
A |
2: 92,210,802 (GRCm39) |
G312D |
probably damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,636,286 (GRCm39) |
V768A |
probably benign |
Het |
Prrc1 |
A |
G |
18: 57,495,564 (GRCm39) |
T14A |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,313,105 (GRCm39) |
L1275P |
probably damaging |
Het |
Rnf214 |
C |
A |
9: 45,811,121 (GRCm39) |
V181F |
probably damaging |
Het |
Ror2 |
T |
C |
13: 53,286,040 (GRCm39) |
N58S |
probably damaging |
Het |
Selplg |
G |
A |
5: 113,958,069 (GRCm39) |
T79I |
probably damaging |
Het |
Setd1b |
G |
A |
5: 123,295,500 (GRCm39) |
G1023S |
unknown |
Het |
Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,562,793 (GRCm39) |
V803A |
unknown |
Het |
Slc25a46 |
T |
C |
18: 31,716,319 (GRCm39) |
I394M |
possibly damaging |
Het |
Snrnp27 |
A |
T |
6: 86,657,935 (GRCm39) |
I101K |
possibly damaging |
Het |
Spag17 |
C |
A |
3: 99,934,906 (GRCm39) |
T704K |
probably benign |
Het |
Tas2r144 |
T |
A |
6: 42,193,058 (GRCm39) |
M266K |
possibly damaging |
Het |
Tasor2 |
A |
G |
13: 3,646,842 (GRCm39) |
V61A |
possibly damaging |
Het |
Tbc1d31 |
T |
A |
15: 57,818,746 (GRCm39) |
L783H |
probably benign |
Het |
Tbck |
C |
A |
3: 132,456,993 (GRCm39) |
|
probably benign |
Het |
Vcan |
A |
G |
13: 89,839,394 (GRCm39) |
V2050A |
probably damaging |
Het |
Vmn1r70 |
T |
A |
7: 10,367,987 (GRCm39) |
N158K |
probably damaging |
Het |
Vmn2r103 |
T |
A |
17: 20,013,121 (GRCm39) |
Y81N |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 20,013,726 (GRCm39) |
T173A |
probably benign |
Het |
Ylpm1 |
T |
G |
12: 85,061,754 (GRCm39) |
S552A |
unknown |
Het |
Zdhhc17 |
A |
T |
10: 110,817,967 (GRCm39) |
Y58* |
probably null |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTTTGAACCAGTGAAACAGCACC -3'
(R):5'- ACAGGAGCTGAGATGCTCTAATGAGAC -3'
Sequencing Primer
(F):5'- AACCTGTGTGAATTCTATTGCC -3'
(R):5'- TGCTCTAATGAGACAAAGAAGTGG -3'
|
Posted On |
2013-04-24 |