Incidental Mutation 'R6886:Carf'
| ID |
536925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carf
|
| Ensembl Gene |
ENSMUSG00000026017 |
| Gene Name |
calcium response factor |
| Synonyms |
Als2cr8 |
| MMRRC Submission |
044980-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6886 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60137406-60193112 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 60175413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027171]
[ENSMUST00000027171]
[ENSMUST00000130075]
[ENSMUST00000180952]
[ENSMUST00000180952]
[ENSMUST00000186107]
[ENSMUST00000187978]
[ENSMUST00000187978]
|
| AlphaFold |
Q8VHI4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027171
|
| SMART Domains |
Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
227 |
457 |
6.4e-63 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000027171
|
| SMART Domains |
Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
227 |
457 |
6.4e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130075
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180952
|
| SMART Domains |
Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180952
|
| SMART Domains |
Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
| 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 null
Transcript: ENSMUST00000187978
|
| SMART Domains |
Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187978
|
| SMART Domains |
Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp7b |
A |
T |
8: 22,518,706 (GRCm39) |
M44K |
probably benign |
Het |
| Bad |
T |
C |
19: 6,928,702 (GRCm39) |
|
probably benign |
Het |
| Bbs12 |
A |
G |
3: 37,373,390 (GRCm39) |
D61G |
probably damaging |
Het |
| Bcr |
C |
T |
10: 74,989,769 (GRCm39) |
R722C |
probably damaging |
Het |
| Ccdc181 |
A |
G |
1: 164,107,665 (GRCm39) |
E116G |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,915,855 (GRCm39) |
V706A |
probably benign |
Het |
| Col9a1 |
T |
A |
1: 24,224,426 (GRCm39) |
S203T |
unknown |
Het |
| Ctsl |
T |
C |
13: 64,512,961 (GRCm39) |
|
probably null |
Het |
| Exosc7 |
A |
T |
9: 122,965,023 (GRCm39) |
E277D |
probably benign |
Het |
| Fam20b |
A |
T |
1: 156,518,081 (GRCm39) |
W238R |
probably damaging |
Het |
| Fanci |
A |
T |
7: 79,070,090 (GRCm39) |
H430L |
possibly damaging |
Het |
| Fstl4 |
A |
G |
11: 53,077,277 (GRCm39) |
D678G |
probably damaging |
Het |
| Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gm11569 |
T |
A |
11: 99,689,247 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
G |
A |
1: 135,901,198 (GRCm39) |
R306W |
probably damaging |
Het |
| Il6 |
C |
T |
5: 30,223,201 (GRCm39) |
|
probably benign |
Het |
| Khdc1c |
T |
C |
1: 21,439,749 (GRCm39) |
L100P |
possibly damaging |
Het |
| Kif18a |
G |
A |
2: 109,127,008 (GRCm39) |
R314H |
probably damaging |
Het |
| Kif26b |
A |
C |
1: 178,701,703 (GRCm39) |
K694T |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,493,485 (GRCm39) |
T484A |
probably benign |
Het |
| Lonrf1 |
T |
C |
8: 36,696,191 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
C |
T |
3: 100,563,387 (GRCm39) |
G169D |
probably benign |
Het |
| Med6 |
G |
T |
12: 81,638,159 (GRCm39) |
D17E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,110,236 (GRCm39) |
K204R |
probably damaging |
Het |
| Nhlrc1 |
T |
A |
13: 47,167,252 (GRCm39) |
N335I |
possibly damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,289,313 (GRCm39) |
M400V |
probably benign |
Het |
| Or7e173 |
G |
T |
9: 19,938,428 (GRCm39) |
H269N |
probably benign |
Het |
| Or8k22 |
A |
T |
2: 86,163,408 (GRCm39) |
C97* |
probably null |
Het |
| Pkhd1 |
C |
T |
1: 20,417,504 (GRCm39) |
S2549N |
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,539,332 (GRCm39) |
F54L |
probably benign |
Het |
| Rab4b |
A |
C |
7: 26,872,381 (GRCm39) |
L145R |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,577,011 (GRCm39) |
I526V |
probably benign |
Het |
| Rel |
T |
C |
11: 23,694,304 (GRCm39) |
H309R |
probably benign |
Het |
| Rnf2 |
G |
T |
1: 151,349,017 (GRCm39) |
N34K |
possibly damaging |
Het |
| Serpina3m |
G |
T |
12: 104,355,386 (GRCm39) |
V18F |
possibly damaging |
Het |
| Serpinb9c |
T |
C |
13: 33,334,310 (GRCm39) |
K244R |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,900,715 (GRCm39) |
Y984F |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,824,825 (GRCm39) |
M410K |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,570,127 (GRCm39) |
A710V |
probably damaging |
Het |
| Snx19 |
C |
A |
9: 30,340,231 (GRCm39) |
D456E |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,870,280 (GRCm39) |
D101E |
probably benign |
Het |
| Tax1bp1 |
A |
T |
6: 52,710,208 (GRCm39) |
E162D |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,446,599 (GRCm39) |
M823K |
possibly damaging |
Het |
| Tesk1 |
A |
G |
4: 43,443,592 (GRCm39) |
D53G |
possibly damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,786,668 (GRCm39) |
S1577T |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,299,716 (GRCm39) |
I1270V |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,256,608 (GRCm39) |
|
probably null |
Het |
| Ube4a |
A |
T |
9: 44,860,141 (GRCm39) |
I307N |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,170,156 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,166,927 (GRCm39) |
K735E |
probably damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,080 (GRCm39) |
F285L |
probably benign |
Het |
| Vmn2r81 |
T |
G |
10: 79,103,988 (GRCm39) |
S204A |
possibly damaging |
Het |
| Washc1 |
A |
G |
17: 66,426,061 (GRCm39) |
D453G |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,544,025 (GRCm39) |
I500L |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 82,975,125 (GRCm39) |
D441G |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,785,777 (GRCm39) |
T257A |
possibly 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 |
|
|
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'- GACAGACAGACAAATCATATGTCTC -3'
(R):5'- TGGGATTTCAGGCTTCAGTAAG -3'
Sequencing Primer
(F):5'- GTCTCTATGTATCAGCAAAGGTTAC -3'
(R):5'- ACTTCACTGTACAGGTTTTTGAGATG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation