Incidental Mutation 'R7228:Carf'
| ID |
562259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carf
|
| Ensembl Gene |
ENSMUSG00000026017 |
| Gene Name |
calcium response factor |
| Synonyms |
Als2cr8 |
| MMRRC Submission |
045300-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7228 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60137406-60193112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60148553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 83
(N83I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027171]
[ENSMUST00000124986]
[ENSMUST00000130075]
[ENSMUST00000180952]
[ENSMUST00000186107]
[ENSMUST00000187978]
|
| AlphaFold |
Q8VHI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027171
AA Change: N48I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: N48I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
227 |
457 |
6.4e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124986
AA Change: N22I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130075
AA Change: N48I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180952
AA Change: N83I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: N83I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186107
AA Change: N48I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017
AA Change: N48I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
239 |
255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187978
AA Change: N83I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: N83I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,247,653 (GRCm39) |
F2467I |
probably benign |
Het |
| Acod1 |
A |
G |
14: 103,286,765 (GRCm39) |
T23A |
probably benign |
Het |
| Adam2 |
T |
A |
14: 66,291,361 (GRCm39) |
K306* |
probably null |
Het |
| Adcy10 |
A |
C |
1: 165,337,841 (GRCm39) |
I152L |
probably damaging |
Het |
| Amigo1 |
T |
C |
3: 108,094,546 (GRCm39) |
L15P |
probably benign |
Het |
| Aqp2 |
A |
G |
15: 99,480,005 (GRCm39) |
N156S |
probably benign |
Het |
| AU041133 |
A |
G |
10: 81,987,105 (GRCm39) |
K253E |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 135,998,797 (GRCm39) |
T231A |
possibly damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,532 (GRCm39) |
K140R |
probably benign |
Het |
| Cdc42bpb |
C |
T |
12: 111,271,527 (GRCm39) |
V1111M |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,946,561 (GRCm39) |
S424P |
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,549,507 (GRCm39) |
V123M |
unknown |
Het |
| Crot |
T |
A |
5: 9,026,051 (GRCm39) |
N312I |
probably damaging |
Het |
| Cyp2c69 |
C |
A |
19: 39,869,610 (GRCm39) |
M136I |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,710,803 (GRCm39) |
D454G |
probably damaging |
Het |
| Dnaja4 |
A |
T |
9: 54,621,569 (GRCm39) |
H298L |
possibly damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,287,638 (GRCm39) |
T1081M |
probably damaging |
Het |
| Eif3j2 |
T |
C |
18: 43,610,574 (GRCm39) |
K80E |
probably damaging |
Het |
| Elp4 |
T |
A |
2: 105,622,647 (GRCm39) |
I351F |
probably damaging |
Het |
| Fbxw26 |
C |
G |
9: 109,554,012 (GRCm39) |
G209A |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,822,651 (GRCm39) |
V6128D |
possibly damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,087 (GRCm39) |
T825A |
probably benign |
Het |
| Gm2042 |
A |
G |
12: 87,924,719 (GRCm39) |
E60G |
probably benign |
Het |
| Gm26566 |
G |
T |
4: 88,640,542 (GRCm39) |
R111L |
unknown |
Het |
| Gm3138 |
C |
A |
14: 15,632,269 (GRCm39) |
H147Q |
probably damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,940,581 (GRCm39) |
N615I |
unknown |
Het |
| Ighv14-1 |
A |
T |
12: 113,895,981 (GRCm39) |
F8I |
not run |
Het |
| Kcnh8 |
C |
T |
17: 53,263,744 (GRCm39) |
T747I |
probably benign |
Het |
| Kctd1 |
T |
A |
18: 15,195,469 (GRCm39) |
S385C |
possibly damaging |
Het |
| Lmo7 |
T |
A |
14: 102,133,971 (GRCm39) |
M672K |
probably damaging |
Het |
| Lrrc69 |
T |
A |
4: 14,775,027 (GRCm39) |
K80N |
probably damaging |
Het |
| Map2k5 |
C |
T |
9: 63,265,304 (GRCm39) |
D75N |
probably damaging |
Het |
| Matr3 |
T |
C |
18: 35,695,537 (GRCm39) |
V4A |
unknown |
Het |
| Megf10 |
T |
C |
18: 57,322,661 (GRCm39) |
C69R |
probably damaging |
Het |
| Mettl1 |
A |
G |
10: 126,881,152 (GRCm39) |
E221G |
probably benign |
Het |
| Mkrn3 |
C |
A |
7: 62,069,415 (GRCm39) |
R125S |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,282,430 (GRCm39) |
L1401Q |
probably benign |
Het |
| Nacad |
T |
C |
11: 6,548,412 (GRCm39) |
I1412V |
probably benign |
Het |
| Nkain4 |
A |
T |
2: 180,596,362 (GRCm39) |
|
probably null |
Het |
| Notch2 |
T |
A |
3: 98,044,633 (GRCm39) |
C1518* |
probably null |
Het |
| Npw |
A |
G |
17: 24,877,065 (GRCm39) |
V112A |
probably benign |
Het |
| Or10a5 |
A |
T |
7: 106,636,307 (GRCm39) |
H315L |
probably benign |
Het |
| Or2v1 |
T |
A |
11: 49,025,706 (GRCm39) |
M229K |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,059 (GRCm39) |
T2359A |
probably benign |
Het |
| Pdzd2 |
T |
A |
15: 12,458,231 (GRCm39) |
K37* |
probably null |
Het |
| Phkb |
T |
G |
8: 86,569,636 (GRCm39) |
|
probably benign |
Het |
| Pou2af2 |
T |
C |
9: 51,202,956 (GRCm39) |
D66G |
probably damaging |
Het |
| Prrc2b |
C |
A |
2: 32,104,318 (GRCm39) |
Y1265* |
probably null |
Het |
| Rab31 |
T |
A |
17: 66,024,548 (GRCm39) |
M44L |
probably benign |
Het |
| Rap1gds1 |
C |
T |
3: 138,663,228 (GRCm39) |
G373R |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,976,525 (GRCm39) |
D1279G |
probably benign |
Het |
| Rbm46 |
T |
C |
3: 82,749,840 (GRCm39) |
D468G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,692,197 (GRCm39) |
E1059G |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,552,897 (GRCm39) |
L221P |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,490,245 (GRCm39) |
V361E |
probably damaging |
Het |
| Soat1 |
G |
A |
1: 156,261,808 (GRCm39) |
S400F |
probably damaging |
Het |
| Spp1 |
T |
C |
5: 104,588,311 (GRCm39) |
S238P |
probably damaging |
Het |
| Tdpoz8 |
T |
A |
3: 92,980,993 (GRCm39) |
C4S |
possibly damaging |
Het |
| Tfap2c |
T |
C |
2: 172,393,492 (GRCm39) |
S136P |
probably benign |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,011 (GRCm39) |
E297G |
probably damaging |
Het |
| Trim2 |
T |
C |
3: 84,099,488 (GRCm39) |
D228G |
probably benign |
Het |
| Wdr82 |
C |
A |
9: 106,053,871 (GRCm39) |
A74E |
probably benign |
Het |
| Zfp451 |
T |
C |
1: 33,842,475 (GRCm39) |
T136A |
unknown |
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 |
|
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'- CGGACCTGTATGGACTCTGG -3'
(R):5'- ATGGACGGATAGACAAACAAGCT -3'
Sequencing Primer
(F):5'- ACCTGTATGGACTCTGGGGATCC -3'
(R):5'- AGATCCCCAAGTTTGAGGCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation