Incidental Mutation 'R7809:Carf'
| ID |
600987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carf
|
| Ensembl Gene |
ENSMUSG00000026017 |
| Gene Name |
calcium response factor |
| Synonyms |
Als2cr8 |
| MMRRC Submission |
045864-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7809 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60137406-60193112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 60183226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 443
(V443L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027171]
[ENSMUST00000130075]
[ENSMUST00000180952]
[ENSMUST00000186107]
[ENSMUST00000187978]
|
| AlphaFold |
Q8VHI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027171
AA Change: V408L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: V408L
| 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: V443L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: V443L
| 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 damaging
Transcript: ENSMUST00000187978
AA Change: V443L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: V443L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot13 |
G |
A |
13: 25,004,779 (GRCm39) |
T62I |
probably damaging |
Het |
| Adam33 |
C |
G |
2: 130,893,266 (GRCm39) |
R779P |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,676,760 (GRCm39) |
P2024S |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,672,675 (GRCm39) |
N170S |
probably damaging |
Het |
| Ambn |
G |
A |
5: 88,615,683 (GRCm39) |
V371I |
probably benign |
Het |
| Apbb1 |
G |
A |
7: 105,223,014 (GRCm39) |
P199L |
probably benign |
Het |
| Axdnd1 |
A |
T |
1: 156,220,371 (GRCm39) |
C118* |
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,402,894 (GRCm39) |
D459G |
probably damaging |
Het |
| Ckap5 |
G |
A |
2: 91,436,702 (GRCm39) |
A1601T |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,478,406 (GRCm39) |
I973N |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,835 (GRCm39) |
T391A |
unknown |
Het |
| Cracr2a |
A |
T |
6: 127,626,925 (GRCm39) |
M569L |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,797,474 (GRCm39) |
F1313L |
probably damaging |
Het |
| Cstdc2 |
A |
G |
2: 148,688,910 (GRCm39) |
S110P |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,434,289 (GRCm39) |
R523L |
probably damaging |
Het |
| Cxadr |
T |
C |
16: 78,130,407 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,995,462 (GRCm39) |
M962K |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,243,091 (GRCm39) |
K44R |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,917,924 (GRCm39) |
S1500G |
probably damaging |
Het |
| Gad1 |
T |
C |
2: 70,427,603 (GRCm39) |
F503S |
possibly damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,631 (GRCm39) |
E645G |
|
Het |
| Gm20730 |
T |
C |
6: 43,058,989 (GRCm39) |
I15V |
probably benign |
Het |
| Gmppb |
T |
G |
9: 107,928,654 (GRCm39) |
*361G |
probably null |
Het |
| Inpp5f |
T |
C |
7: 128,269,367 (GRCm39) |
V239A |
probably damaging |
Het |
| Irf4 |
A |
T |
13: 30,941,415 (GRCm39) |
Y257F |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,423,324 (GRCm39) |
D793G |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,373,057 (GRCm39) |
V92A |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,678 (GRCm39) |
K358R |
probably damaging |
Het |
| Mcpt4 |
T |
A |
14: 56,298,141 (GRCm39) |
I137F |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,638 (GRCm39) |
H1358L |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,855,944 (GRCm39) |
M979L |
possibly damaging |
Het |
| Mvb12a |
C |
A |
8: 71,998,306 (GRCm39) |
P175T |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,241,167 (GRCm39) |
E848G |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,647,902 (GRCm39) |
H129L |
probably damaging |
Het |
| Oxnad1 |
T |
C |
14: 31,822,962 (GRCm39) |
V231A |
probably benign |
Het |
| Pcdhac1 |
A |
G |
18: 37,224,009 (GRCm39) |
N274S |
possibly damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,630,302 (GRCm39) |
K1532N |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,523,449 (GRCm39) |
D14G |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,415,164 (GRCm39) |
F1432S |
possibly damaging |
Het |
| Prlhr |
A |
G |
19: 60,456,293 (GRCm39) |
L91P |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,178,209 (GRCm39) |
V508I |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,357,848 (GRCm39) |
Y387C |
probably damaging |
Het |
| Sall3 |
T |
A |
18: 81,017,575 (GRCm39) |
T118S |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,034,614 (GRCm39) |
D1015E |
possibly damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,398,155 (GRCm39) |
N12S |
probably benign |
Het |
| Sohlh1 |
A |
C |
2: 25,735,289 (GRCm39) |
S198A |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 46,198,465 (GRCm39) |
S38P |
possibly damaging |
Het |
| Spata21 |
G |
A |
4: 140,831,354 (GRCm39) |
A434T |
probably null |
Het |
| Stard13 |
T |
A |
5: 151,113,489 (GRCm39) |
Q24L |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,014,230 (GRCm39) |
M3140I |
probably benign |
Het |
| Tango6 |
T |
C |
8: 107,415,926 (GRCm39) |
|
probably null |
Het |
| Tdrd9 |
G |
A |
12: 111,999,155 (GRCm39) |
G757R |
probably damaging |
Het |
| Thada |
A |
C |
17: 84,759,265 (GRCm39) |
V198G |
possibly damaging |
Het |
| Tmf1 |
T |
C |
6: 97,138,420 (GRCm39) |
N833D |
probably damaging |
Het |
| Trav7-3 |
T |
C |
14: 53,681,072 (GRCm39) |
M38T |
probably benign |
Het |
| Ttc38 |
A |
C |
15: 85,722,939 (GRCm39) |
Q129P |
possibly damaging |
Het |
| Uox |
A |
T |
3: 146,333,613 (GRCm39) |
K271* |
probably null |
Het |
| Urgcp |
A |
T |
11: 5,673,133 (GRCm39) |
D47E |
probably benign |
Het |
| Usp17lb |
A |
G |
7: 104,490,420 (GRCm39) |
I169T |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,862,596 (GRCm39) |
I805T |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,250,446 (GRCm39) |
F59S |
probably damaging |
Het |
| Zfp383 |
G |
A |
7: 29,609,661 (GRCm39) |
A21T |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,278 (GRCm39) |
Y210C |
possibly damaging |
Het |
| Zfp871 |
A |
G |
17: 32,993,826 (GRCm39) |
C450R |
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 |
|
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 |
|
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'- AACCTGTGTGAATTCTATTGCCTTG -3'
(R):5'- CCTTTCTACAAGGCCAAATACTGAC -3'
Sequencing Primer
(F):5'- GCCTTGATAAATAGACACAAA -3'
(R):5'- CTGACTTTACAGTGTTAACAGGAGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation