Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01487:Carf'

88768

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 #

IGL01487

Quality Score

Status

Chromosome

Chromosomal Location

60137406-60193112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60148538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 17 (H17R)

Ref Sequence

ENSEMBL: ENSMUSP00000121293 (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: H43R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: H43R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124986
AA Change: H17R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130075
AA Change: H43R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150008

Predicted Effect

probably benign
Transcript: ENSMUST00000180952
AA Change: H78R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: H78R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000186107
AA Change: H43R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017
AA Change: H43R

Domain	Start	End	E-Value	Type
low complexity region	239	255	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187978
AA Change: H78R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: H78R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191232

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,816,431 (GRCm39)	V121A	probably damaging	Het
Col5a2	T	C	1: 45,415,899 (GRCm39)	N1416S	probably benign	Het
Ctsm	C	A	13: 61,686,883 (GRCm39)	R3L	probably benign	Het
Dnah3	G	A	7: 119,564,753 (GRCm39)	Q2626*	probably null	Het
Dpp3	C	T	19: 4,963,920 (GRCm39)	V587I	probably benign	Het
Fank1	A	G	7: 133,481,638 (GRCm39)	T245A	probably damaging	Het
Golga5	A	G	12: 102,461,955 (GRCm39)		probably benign	Het
Hoxb9	C	T	11: 96,165,614 (GRCm39)	Q228*	probably null	Het
Invs	A	G	4: 48,398,136 (GRCm39)	I441V	probably benign	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Psd3	T	C	8: 68,149,766 (GRCm39)	E1243G	probably benign	Het
Rapgefl1	C	T	11: 98,737,961 (GRCm39)	H392Y	probably damaging	Het
Ropn1	T	C	16: 34,498,839 (GRCm39)	V209A	probably damaging	Het
Scap	G	A	9: 110,206,802 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,391,689 (GRCm39)	M1T	probably null	Het
Serpinb11	A	T	1: 107,307,568 (GRCm39)	Y333F	probably benign	Het
Sf3b3	A	G	8: 111,544,292 (GRCm39)	Y783H	probably benign	Het
Slc4a4	A	G	5: 89,376,715 (GRCm39)	M990V	probably benign	Het
Syt3	G	T	7: 44,040,423 (GRCm39)	V219F	possibly damaging	Het
Tmtc4	A	G	14: 123,163,443 (GRCm39)	L647S	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
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

2013-11-18