Incidental Mutation 'R0465:Carf'
ID |
41545 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Carf
|
Ensembl Gene |
ENSMUSG00000026017 |
Gene Name |
calcium response factor |
Synonyms |
Als2cr8 |
MMRRC Submission |
038665-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0465 (G1)
|
Quality Score |
194 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
60137406-60193112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60171142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 200
(M200T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027171]
[ENSMUST00000130075]
[ENSMUST00000180952]
[ENSMUST00000186107]
[ENSMUST00000187978]
|
AlphaFold |
Q8VHI4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027171
AA Change: M200T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000027171 Gene: ENSMUSG00000026017 AA Change: M200T
Domain | Start | End | E-Value | Type |
Pfam:ALS2CR8
|
227 |
457 |
6.4e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130075
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180952
AA Change: M235T
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000137825 Gene: ENSMUSG00000026017 AA Change: M235T
Domain | Start | End | E-Value | Type |
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186107
AA Change: M200T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139554 Gene: ENSMUSG00000026017 AA Change: M200T
Domain | Start | End | E-Value | Type |
low complexity region
|
239 |
255 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187978
AA Change: M235T
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141169 Gene: ENSMUSG00000026017 AA Change: M235T
Domain | Start | End | E-Value | Type |
Pfam:ALS2CR8
|
224 |
458 |
1.2e-64 |
PFAM |
|
Meta Mutation Damage Score |
0.4134 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
100% (71/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
T |
A |
17: 56,092,137 (GRCm39) |
|
probably benign |
Het |
Ankrd13a |
T |
A |
5: 114,942,295 (GRCm39) |
I526N |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,101,366 (GRCm39) |
V446I |
probably damaging |
Het |
Arid1b |
G |
A |
17: 5,046,535 (GRCm39) |
G441D |
possibly damaging |
Het |
Bdkrb2 |
A |
T |
12: 105,558,118 (GRCm39) |
N120Y |
possibly damaging |
Het |
Bud31 |
G |
A |
5: 145,083,396 (GRCm39) |
V80I |
probably damaging |
Het |
Camkmt |
T |
A |
17: 85,738,950 (GRCm39) |
F225L |
probably damaging |
Het |
Carmil3 |
T |
C |
14: 55,737,318 (GRCm39) |
L767P |
probably damaging |
Het |
Cdk14 |
T |
A |
5: 5,143,019 (GRCm39) |
R237S |
probably damaging |
Het |
Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
Cfap65 |
G |
A |
1: 74,956,043 (GRCm39) |
R1093C |
possibly damaging |
Het |
Cnot8 |
T |
A |
11: 58,004,886 (GRCm39) |
V195E |
probably damaging |
Het |
Copa |
T |
C |
1: 171,945,872 (GRCm39) |
F936S |
probably damaging |
Het |
Cstdc1 |
A |
G |
2: 148,625,345 (GRCm39) |
N93S |
probably benign |
Het |
Dnai1 |
T |
A |
4: 41,629,988 (GRCm39) |
|
probably null |
Het |
Dsel |
T |
C |
1: 111,789,992 (GRCm39) |
N181S |
probably benign |
Het |
Enpp7 |
A |
G |
11: 118,879,607 (GRCm39) |
N87S |
probably damaging |
Het |
Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gm12695 |
T |
C |
4: 96,673,312 (GRCm39) |
Y29C |
probably damaging |
Het |
Gm5592 |
T |
A |
7: 40,805,481 (GRCm39) |
|
probably benign |
Het |
Gmnc |
T |
G |
16: 26,781,702 (GRCm39) |
N109T |
probably damaging |
Het |
Gstcd |
A |
G |
3: 132,688,905 (GRCm39) |
I615T |
probably benign |
Het |
Hal |
A |
C |
10: 93,352,146 (GRCm39) |
K646Q |
probably benign |
Het |
Hbs1l |
A |
G |
10: 21,227,940 (GRCm39) |
I472V |
probably null |
Het |
Ift27 |
A |
T |
15: 78,057,958 (GRCm39) |
|
probably benign |
Het |
Iqub |
A |
T |
6: 24,503,783 (GRCm39) |
I163N |
probably damaging |
Het |
Isg20l2 |
T |
A |
3: 87,838,987 (GRCm39) |
V66E |
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,870,582 (GRCm39) |
M137T |
probably damaging |
Het |
Lca5 |
T |
A |
9: 83,277,920 (GRCm39) |
K475* |
probably null |
Het |
Lyve1 |
A |
G |
7: 110,452,034 (GRCm39) |
|
probably null |
Het |
Map3k19 |
T |
C |
1: 127,766,264 (GRCm39) |
D220G |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,699,204 (GRCm39) |
|
probably benign |
Het |
Mmp15 |
T |
C |
8: 96,094,626 (GRCm39) |
W167R |
probably damaging |
Het |
Ms4a13 |
A |
G |
19: 11,149,957 (GRCm39) |
C135R |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,101,243 (GRCm39) |
H673R |
possibly damaging |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Oas2 |
A |
G |
5: 120,873,120 (GRCm39) |
I645T |
probably damaging |
Het |
Or52s6 |
A |
T |
7: 103,092,042 (GRCm39) |
F96Y |
possibly damaging |
Het |
Pard3b |
T |
G |
1: 62,250,877 (GRCm39) |
|
probably benign |
Het |
Patj |
T |
A |
4: 98,423,744 (GRCm39) |
|
probably null |
Het |
Pcare |
A |
G |
17: 72,057,155 (GRCm39) |
C841R |
probably benign |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
Rab34 |
C |
A |
11: 78,081,337 (GRCm39) |
C67* |
probably null |
Het |
Rimbp3 |
T |
C |
16: 17,029,644 (GRCm39) |
S1023P |
possibly damaging |
Het |
Rnf148 |
T |
C |
6: 23,654,684 (GRCm39) |
N104S |
probably benign |
Het |
Rpa1 |
T |
C |
11: 75,203,921 (GRCm39) |
T288A |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,357,340 (GRCm39) |
L976P |
probably damaging |
Het |
Serpina12 |
T |
A |
12: 104,004,104 (GRCm39) |
D176V |
probably benign |
Het |
Sik1 |
C |
T |
17: 32,073,996 (GRCm39) |
V10I |
possibly damaging |
Het |
Sntb1 |
C |
A |
15: 55,612,672 (GRCm39) |
R302L |
probably benign |
Het |
Stambp |
A |
G |
6: 83,547,321 (GRCm39) |
I56T |
probably benign |
Het |
Tac2 |
A |
G |
10: 127,565,039 (GRCm39) |
|
probably benign |
Het |
Tecta |
A |
T |
9: 42,270,714 (GRCm39) |
I1198K |
possibly damaging |
Het |
Tfip11 |
C |
T |
5: 112,481,130 (GRCm39) |
R369C |
probably benign |
Het |
Tnpo1 |
A |
G |
13: 99,021,142 (GRCm39) |
I79T |
probably damaging |
Het |
Ttll5 |
A |
T |
12: 85,980,100 (GRCm39) |
N895Y |
probably benign |
Het |
Ube2u |
T |
A |
4: 100,389,293 (GRCm39) |
|
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn2r1 |
T |
C |
3: 63,989,180 (GRCm39) |
S40P |
possibly damaging |
Het |
Vmn2r100 |
G |
A |
17: 19,751,792 (GRCm39) |
V612I |
probably damaging |
Het |
Vmn2r59 |
G |
T |
7: 41,696,332 (GRCm39) |
H137N |
probably benign |
Het |
Vsig10l |
T |
C |
7: 43,116,866 (GRCm39) |
V467A |
probably damaging |
Het |
Vwde |
A |
G |
6: 13,215,805 (GRCm39) |
|
probably benign |
Het |
Xrra1 |
T |
A |
7: 99,528,578 (GRCm39) |
D139E |
probably benign |
Het |
Zc3h15 |
T |
C |
2: 83,494,159 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,310,716 (GRCm39) |
|
probably benign |
Het |
Zscan18 |
A |
G |
7: 12,509,413 (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 |
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 |
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'- tcatagctcctggcaACAGAGACAT -3'
(R):5'- GCTTGGCTGCAAAGCCTGATACAAA -3'
Sequencing Primer
(F):5'- ctcctggcaACAGAGACATATTTTC -3'
(R):5'- tCAGTGTCACACTTTTAAACATAACC -3'
|
Posted On |
2013-05-23 |