Incidental Mutation 'R1433:Carf'
| ID |
159285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carf
|
| Ensembl Gene |
ENSMUSG00000026017 |
| Gene Name |
calcium response factor |
| Synonyms |
Als2cr8 |
| MMRRC Submission |
039488-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1433 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60137406-60193112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 60164017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 43
(M43R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027171]
[ENSMUST00000124986]
[ENSMUST00000130075]
[ENSMUST00000180952]
[ENSMUST00000186107]
[ENSMUST00000187978]
|
| AlphaFold |
Q8VHI4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027171
AA Change: M69R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: M69R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
227 |
457 |
6.4e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124986
AA Change: M43R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130075
AA Change: M69R
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180952
AA Change: M104R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: M104R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186107
AA Change: M69R
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017
AA Change: M69R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
239 |
255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187978
AA Change: M104R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: M104R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
C |
T |
12: 30,945,934 (GRCm39) |
E140K |
possibly damaging |
Het |
| Acsm4 |
T |
A |
7: 119,293,042 (GRCm39) |
D57E |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,826,271 (GRCm39) |
|
probably null |
Het |
| Aen |
T |
A |
7: 78,557,060 (GRCm39) |
Y303N |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,116,115 (GRCm39) |
|
probably null |
Het |
| Apol7b |
A |
G |
15: 77,309,746 (GRCm39) |
L17P |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,629,754 (GRCm39) |
Y1058* |
probably null |
Het |
| Camk2d |
T |
C |
3: 126,601,873 (GRCm39) |
V354A |
probably benign |
Het |
| Casp8 |
T |
A |
1: 58,863,283 (GRCm39) |
F81Y |
probably damaging |
Het |
| Cd74 |
G |
A |
18: 60,937,064 (GRCm39) |
R20H |
probably benign |
Het |
| Cers5 |
A |
T |
15: 99,643,812 (GRCm39) |
Y16* |
probably null |
Het |
| Chuk |
A |
T |
19: 44,067,397 (GRCm39) |
M586K |
probably null |
Het |
| D130043K22Rik |
C |
A |
13: 25,055,324 (GRCm39) |
P496Q |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,459,419 (GRCm39) |
R311G |
probably damaging |
Het |
| Depp1 |
A |
T |
6: 116,629,223 (GRCm39) |
S189C |
possibly damaging |
Het |
| Diaph1 |
A |
T |
18: 38,038,187 (GRCm39) |
I48N |
unknown |
Het |
| Dnajc13 |
T |
C |
9: 104,057,320 (GRCm39) |
D1560G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,715,780 (GRCm39) |
S241P |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 76,996,204 (GRCm39) |
D1119G |
probably benign |
Het |
| Efr3a |
G |
T |
15: 65,740,906 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,550,427 (GRCm39) |
K814E |
probably damaging |
Het |
| Hic2 |
A |
G |
16: 17,076,686 (GRCm39) |
D505G |
probably benign |
Het |
| Ing1 |
T |
A |
8: 11,607,010 (GRCm39) |
V34D |
probably damaging |
Het |
| Inpp5k |
A |
G |
11: 75,528,317 (GRCm39) |
M172V |
probably benign |
Het |
| Itgae |
T |
C |
11: 73,006,418 (GRCm39) |
V362A |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 27,063,750 (GRCm39) |
R1346S |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,882,943 (GRCm39) |
N450S |
probably damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,502,583 (GRCm39) |
Y578F |
possibly damaging |
Het |
| Maml2 |
A |
T |
9: 13,617,797 (GRCm39) |
N381I |
probably damaging |
Het |
| Mettl15 |
T |
G |
2: 108,923,266 (GRCm39) |
E385D |
probably benign |
Het |
| Mthfr |
T |
A |
4: 148,139,900 (GRCm39) |
I623N |
possibly damaging |
Het |
| Muc4 |
A |
C |
16: 32,574,448 (GRCm39) |
N966T |
probably benign |
Het |
| Myoc |
A |
G |
1: 162,476,565 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,218,602 (GRCm39) |
M1409K |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,187,039 (GRCm39) |
|
probably benign |
Het |
| Numb |
T |
C |
12: 83,844,033 (GRCm39) |
E395G |
probably damaging |
Het |
| Oas1g |
A |
G |
5: 121,020,012 (GRCm39) |
F198S |
probably damaging |
Het |
| Or2b28 |
T |
C |
13: 21,531,194 (GRCm39) |
V32A |
probably benign |
Het |
| Or5k17 |
A |
G |
16: 58,746,049 (GRCm39) |
V295A |
probably benign |
Het |
| Prdm13 |
T |
A |
4: 21,678,909 (GRCm39) |
Y527F |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,177 (GRCm39) |
L1106P |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,699,107 (GRCm39) |
I555N |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,814,606 (GRCm39) |
T836S |
possibly damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,033,686 (GRCm39) |
D3G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,685,871 (GRCm39) |
E1883G |
probably damaging |
Het |
| Serpinc1 |
A |
T |
1: 160,820,974 (GRCm39) |
K140N |
probably damaging |
Het |
| Serpind1 |
A |
T |
16: 17,160,249 (GRCm39) |
Y382F |
probably damaging |
Het |
| Slc28a3 |
T |
C |
13: 58,710,920 (GRCm39) |
E534G |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,711,429 (GRCm39) |
M94T |
probably benign |
Het |
| Ttyh2 |
T |
A |
11: 114,601,005 (GRCm39) |
I418N |
probably benign |
Het |
| Tubgcp4 |
C |
T |
2: 121,005,905 (GRCm39) |
Q98* |
probably null |
Het |
| Ugt2a2 |
A |
G |
5: 87,611,965 (GRCm39) |
L315P |
probably damaging |
Het |
| Vwa1 |
A |
T |
4: 155,857,358 (GRCm39) |
S147T |
probably damaging |
Het |
| Xylt1 |
T |
C |
7: 117,191,179 (GRCm39) |
V325A |
possibly damaging |
Het |
| Zfp335 |
T |
C |
2: 164,741,376 (GRCm39) |
H685R |
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 |
|
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 |
|
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'- TGCCTGGGACTATAGGCTATGTCAC -3'
(R):5'- GCTCACTGGTCATTTGGGAGGAAG -3'
Sequencing Primer
(F):5'- tcacactgatttttttgaatcttacc -3'
(R):5'- GAGTCAGCCAGCTTCATAGAATC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation