Incidental Mutation 'R2238:Carf'
| ID |
240217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carf
|
| Ensembl Gene |
ENSMUSG00000026017 |
| Gene Name |
calcium response factor |
| Synonyms |
Als2cr8 |
| MMRRC Submission |
040238-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2238 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
60137406-60193112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60187193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 599
(S599P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027171]
[ENSMUST00000130075]
[ENSMUST00000180952]
[ENSMUST00000186107]
[ENSMUST00000187978]
|
| AlphaFold |
Q8VHI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027171
AA Change: S564P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: S564P
| 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: S599P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: S599P
| 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: S599P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: S599P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (59/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
A |
4: 144,246,469 (GRCm39) |
V5E |
possibly damaging |
Het |
| Acaca |
T |
C |
11: 84,282,331 (GRCm39) |
|
probably benign |
Het |
| Adam18 |
T |
C |
8: 25,136,303 (GRCm39) |
E406G |
probably benign |
Het |
| Adgrl4 |
A |
T |
3: 151,205,779 (GRCm39) |
I164F |
probably damaging |
Het |
| Arhgap36 |
G |
T |
X: 48,582,282 (GRCm39) |
V60L |
possibly damaging |
Het |
| Bmi1 |
T |
C |
2: 18,688,225 (GRCm39) |
|
probably benign |
Het |
| Cdc37 |
G |
A |
9: 21,053,829 (GRCm39) |
Q176* |
probably null |
Het |
| Clca3a1 |
T |
A |
3: 144,457,766 (GRCm39) |
I373F |
possibly damaging |
Het |
| Clnk |
A |
G |
5: 38,921,694 (GRCm39) |
|
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,496,149 (GRCm39) |
I342V |
probably benign |
Het |
| Dact2 |
A |
T |
17: 14,417,312 (GRCm39) |
L296Q |
probably damaging |
Het |
| Dctn2 |
C |
T |
10: 127,112,257 (GRCm39) |
T123I |
probably damaging |
Het |
| Deup1 |
A |
C |
9: 15,486,597 (GRCm39) |
I455S |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,857,303 (GRCm39) |
V957A |
possibly damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,734 (GRCm39) |
R331G |
possibly damaging |
Het |
| Eomes |
A |
G |
9: 118,311,359 (GRCm39) |
D394G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,100,601 (GRCm39) |
N518S |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,152,057 (GRCm39) |
I30T |
probably benign |
Het |
| Gcc1 |
A |
G |
6: 28,420,462 (GRCm39) |
V285A |
probably benign |
Het |
| Gopc |
T |
C |
10: 52,229,499 (GRCm39) |
H188R |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,631,386 (GRCm39) |
N693D |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,706,850 (GRCm39) |
|
probably benign |
Het |
| Htatsf1 |
G |
T |
X: 56,111,864 (GRCm39) |
D642Y |
unknown |
Het |
| Ints1 |
G |
A |
5: 139,750,955 (GRCm39) |
T814M |
possibly damaging |
Het |
| Kdm6a |
T |
C |
X: 18,065,476 (GRCm39) |
F104S |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,110,179 (GRCm39) |
Y936F |
possibly damaging |
Het |
| Ly6k |
T |
C |
15: 74,669,018 (GRCm39) |
E87G |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,917,848 (GRCm39) |
N3303D |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,278,055 (GRCm39) |
F633S |
probably damaging |
Het |
| Msl2 |
T |
A |
9: 100,978,569 (GRCm39) |
N314K |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,978,320 (GRCm39) |
T840A |
probably benign |
Het |
| Neil3 |
T |
C |
8: 54,052,311 (GRCm39) |
D429G |
possibly damaging |
Het |
| Nt5c1b |
C |
A |
12: 10,425,558 (GRCm39) |
T309K |
probably damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,440,108 (GRCm39) |
Y550C |
probably damaging |
Het |
| Or10v5 |
T |
C |
19: 11,805,814 (GRCm39) |
D192G |
probably damaging |
Het |
| Pabpc4l |
A |
C |
3: 46,401,137 (GRCm39) |
V169G |
probably damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,414,754 (GRCm39) |
N105I |
probably damaging |
Het |
| Phka2 |
A |
G |
X: 159,324,408 (GRCm39) |
E254G |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,923,081 (GRCm39) |
Y984H |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 22,987,376 (GRCm39) |
Q387L |
probably damaging |
Het |
| Rassf8 |
T |
C |
6: 145,762,910 (GRCm39) |
V419A |
probably damaging |
Het |
| Rnf148 |
T |
C |
6: 23,654,345 (GRCm39) |
Y217C |
probably benign |
Het |
| Sec24d |
T |
A |
3: 123,143,543 (GRCm39) |
|
probably null |
Het |
| Sesn3 |
T |
C |
9: 14,219,761 (GRCm39) |
V50A |
probably benign |
Het |
| Sgcd |
T |
C |
11: 47,023,509 (GRCm39) |
N99D |
possibly damaging |
Het |
| Sncaip |
T |
C |
18: 53,001,619 (GRCm39) |
S47P |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
| Spata4 |
A |
C |
8: 55,055,664 (GRCm39) |
K185T |
probably benign |
Het |
| Spin2c |
A |
G |
X: 152,616,672 (GRCm39) |
I162V |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,425,645 (GRCm39) |
T471A |
probably benign |
Het |
| Stac |
G |
A |
9: 111,519,190 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,570,262 (GRCm39) |
Y497H |
probably benign |
Het |
| Tmem40 |
C |
T |
6: 115,708,038 (GRCm39) |
W150* |
probably null |
Het |
| Tmem59l |
T |
C |
8: 70,937,772 (GRCm39) |
T203A |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,537,421 (GRCm39) |
S81T |
possibly damaging |
Het |
| Topaz1 |
C |
T |
9: 122,600,212 (GRCm39) |
T984I |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,740,993 (GRCm39) |
H208R |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,213 (GRCm39) |
M237K |
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 |
|
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'- AGACTCTCCTCTCCTGATGG -3'
(R):5'- TGTAGTGATCCCAGGTTATAAAGG -3'
Sequencing Primer
(F):5'- GCTCACAAGCTTTGGTATCAG -3'
(R):5'- GTGATCCCAGGTTATAAAGGAATTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation