Incidental Mutation 'R1546:Carf'
| ID |
172151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carf
|
| Ensembl Gene |
ENSMUSG00000026017 |
| Gene Name |
calcium response factor |
| Synonyms |
Als2cr8 |
| MMRRC Submission |
039585-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1546 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60137406-60193112 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 60165195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027171]
[ENSMUST00000124986]
[ENSMUST00000130075]
[ENSMUST00000180952]
[ENSMUST00000186107]
[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 benign
Transcript: ENSMUST00000124986
|
| 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 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,026,232 (GRCm39) |
S251P |
probably damaging |
Het |
| Aaas |
C |
A |
15: 102,255,153 (GRCm39) |
R79L |
probably benign |
Het |
| Acap2 |
C |
A |
16: 30,923,754 (GRCm39) |
E657* |
probably null |
Het |
| Adgrg5 |
A |
T |
8: 95,668,258 (GRCm39) |
E441V |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| AY358078 |
C |
T |
14: 52,057,876 (GRCm39) |
|
probably null |
Het |
| Bco2 |
A |
G |
9: 50,461,929 (GRCm39) |
V25A |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 36,924,205 (GRCm39) |
V10A |
possibly damaging |
Het |
| Ccdc38 |
A |
T |
10: 93,401,741 (GRCm39) |
I134L |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,633,097 (GRCm39) |
S85P |
probably benign |
Het |
| Ctsl |
A |
G |
13: 64,515,693 (GRCm39) |
V126A |
probably damaging |
Het |
| Cwc27 |
A |
C |
13: 104,938,693 (GRCm39) |
S206A |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,167,590 (GRCm39) |
I1004T |
probably damaging |
Het |
| Dgki |
A |
G |
6: 37,027,138 (GRCm39) |
V401A |
probably damaging |
Het |
| Dpp8 |
C |
T |
9: 64,970,775 (GRCm39) |
H545Y |
possibly damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,386,680 (GRCm39) |
C205S |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,709,225 (GRCm39) |
E797K |
probably benign |
Het |
| Ephb2 |
C |
T |
4: 136,498,320 (GRCm39) |
R253H |
probably damaging |
Het |
| Esrra |
T |
C |
19: 6,897,665 (GRCm39) |
T31A |
probably benign |
Het |
| Ewsr1 |
C |
A |
11: 5,028,574 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
G |
T |
11: 49,522,808 (GRCm39) |
R475L |
probably benign |
Het |
| Gm13547 |
A |
G |
2: 29,653,921 (GRCm39) |
E138G |
possibly damaging |
Het |
| Gm572 |
A |
T |
4: 148,751,276 (GRCm39) |
R216S |
possibly damaging |
Het |
| H2ac8 |
A |
G |
13: 23,755,119 (GRCm39) |
V55A |
probably damaging |
Het |
| Hapln2 |
T |
A |
3: 87,931,404 (GRCm39) |
Y37F |
probably benign |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,302 (GRCm39) |
|
probably benign |
Het |
| Hhla1 |
C |
T |
15: 65,805,176 (GRCm39) |
A369T |
probably benign |
Het |
| Hmg20a |
T |
A |
9: 56,374,685 (GRCm39) |
F14I |
possibly damaging |
Het |
| Iqca1l |
A |
T |
5: 24,760,426 (GRCm39) |
|
probably null |
Het |
| Itga2 |
A |
T |
13: 114,985,956 (GRCm39) |
S940T |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,359,116 (GRCm39) |
N377S |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lhx6 |
A |
G |
2: 35,981,049 (GRCm39) |
S298P |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,332,954 (GRCm39) |
G1521D |
probably damaging |
Het |
| Mogat2 |
A |
G |
7: 98,881,766 (GRCm39) |
W57R |
probably damaging |
Het |
| Ms4a3 |
T |
C |
19: 11,610,271 (GRCm39) |
N97S |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,548,493 (GRCm39) |
D380G |
probably damaging |
Het |
| Nufip2 |
T |
A |
11: 77,582,432 (GRCm39) |
D115E |
probably damaging |
Het |
| Ogn |
A |
T |
13: 49,762,809 (GRCm39) |
K50N |
probably benign |
Het |
| Or5ac20 |
T |
C |
16: 59,104,366 (GRCm39) |
R165G |
probably damaging |
Het |
| Or8c10 |
A |
T |
9: 38,278,844 (GRCm39) |
M1L |
probably benign |
Het |
| Pde8b |
G |
A |
13: 95,182,951 (GRCm39) |
T269I |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,677 (GRCm39) |
D495E |
probably damaging |
Het |
| Prdm16 |
C |
A |
4: 154,613,117 (GRCm39) |
K103N |
possibly damaging |
Het |
| Proc |
C |
T |
18: 32,260,463 (GRCm39) |
G221S |
probably damaging |
Het |
| Pxk |
A |
G |
14: 8,164,091 (GRCm38) |
N561S |
probably damaging |
Het |
| Rapgef5 |
A |
G |
12: 117,610,721 (GRCm39) |
N323S |
probably benign |
Het |
| Slc6a13 |
T |
G |
6: 121,309,333 (GRCm39) |
D281E |
possibly damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,676 (GRCm39) |
Y454C |
probably damaging |
Het |
| Sntg2 |
C |
A |
12: 30,338,295 (GRCm39) |
L115F |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,993,857 (GRCm39) |
D1103G |
probably damaging |
Het |
| Supv3l1 |
G |
A |
10: 62,268,225 (GRCm39) |
A540V |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,648,689 (GRCm39) |
D1914E |
probably damaging |
Het |
| Tmem30a |
A |
G |
9: 79,678,570 (GRCm39) |
*329Q |
probably null |
Het |
| Tspan5 |
A |
T |
3: 138,604,102 (GRCm39) |
L162F |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,549,396 (GRCm39) |
K31760N |
probably damaging |
Het |
| Tyr |
A |
T |
7: 87,087,200 (GRCm39) |
D437E |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,144,238 (GRCm39) |
L1427* |
probably null |
Het |
| Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,841,075 (GRCm39) |
S1490P |
probably damaging |
Het |
| Vcl |
T |
A |
14: 21,059,018 (GRCm39) |
C545S |
probably damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,314,309 (GRCm39) |
G224D |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,110 (GRCm39) |
V788E |
probably damaging |
Het |
| Vrtn |
G |
A |
12: 84,695,282 (GRCm39) |
V11M |
probably damaging |
Het |
| Zbtb21 |
A |
T |
16: 97,753,227 (GRCm39) |
V380D |
probably damaging |
Het |
| Zcchc14 |
G |
A |
8: 122,331,002 (GRCm39) |
|
probably benign |
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 |
|
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'- CCTCCCATTTGTCTCACATTCAGAGAAG -3'
(R):5'- ACATTGCTCCAAAAGAACAGGAAGGT -3'
Sequencing Primer
(F):5'- AGAtgctgctgattcttttgttg -3'
(R):5'- TGTCTTCTTGTTGTCAAGATGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation