Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00730:Carf'

9382

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Carf

Ensembl Gene

ENSMUSG00000026017

Gene Name

calcium response factor

Synonyms

Als2cr8

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00730

Quality Score

Status

Chromosome

Chromosomal Location

60137406-60193112 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 60186577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 511 (Q511*)

Ref Sequence

ENSEMBL: ENSMUSP00000141169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027171] [ENSMUST00000130075] [ENSMUST00000180952] [ENSMUST00000186107] [ENSMUST00000187978]

AlphaFold

Q8VHI4

Predicted Effect

probably null
Transcript: ENSMUST00000027171
AA Change: Q476*

SMART Domains

Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: Q476*

Domain	Start	End	E-Value	Type
Pfam:ALS2CR8	227	457	6.4e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130075

Predicted Effect

probably benign
Transcript: ENSMUST00000132949

Predicted Effect

probably null
Transcript: ENSMUST00000180952
AA Change: Q511*

SMART Domains

Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: Q511*

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
AA Change: Q511*

SMART Domains

Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: Q511*

Domain	Start	End	E-Value	Type
Pfam:ALS2CR8	224	458	1.2e-64	PFAM

Coding Region Coverage

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	A	T	18: 80,171,247 (GRCm39)	I1054N	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Dnaaf5	G	T	5: 139,137,423 (GRCm39)		probably null	Het
Gen1	T	C	12: 11,311,068 (GRCm39)	N55D	probably damaging	Het
Gsdmc4	T	A	15: 63,769,653 (GRCm39)	R190W	probably damaging	Het
Hsd3b5	A	T	3: 98,537,373 (GRCm39)	S48T	probably benign	Het
Lactb2	T	G	1: 13,717,740 (GRCm39)		probably benign	Het
Pdzk1	A	G	3: 96,775,742 (GRCm39)	D370G	probably benign	Het
Qtrt1	G	T	9: 21,330,845 (GRCm39)		probably null	Het
Taf7l2	A	C	10: 115,948,931 (GRCm39)	D198E	probably benign	Het
Tmem63c	T	A	12: 87,123,980 (GRCm39)	L486Q	probably benign	Het
Top2b	A	G	14: 16,389,831 (GRCm38)	Y223C	probably damaging	Het
Trpm2	T	C	10: 77,778,749 (GRCm39)		probably null	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
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
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

Posted On

2012-12-06