Mutagenetix > Incidental Mutations

Incidental Mutation 'R8423:Carf'

653285

Institutional Source

Beutler Lab

Gene Symbol

Carf

Ensembl Gene

ENSMUSG00000026017

Gene Name

calcium response factor

Synonyms

Als2cr8

Accession Numbers

Genbank: NM_139150; MGI: 2182269

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8423 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60098247-60153953 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60150593 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 659 (L659Q)

Ref Sequence

ENSEMBL: ENSMUSP00000137825 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027171
AA Change: L624Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: L624Q

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

possibly damaging
Transcript: ENSMUST00000180952
AA Change: L659Q

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: L659Q

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

possibly damaging
Transcript: ENSMUST00000187978
AA Change: L659Q

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: L659Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,490,910	D449G	possibly damaging	Het
Ampd1	T	C	3: 103,080,989	S83P	probably benign	Het
Bub1	G	A	2: 127,807,830	L703F	probably benign	Het
C1rb	T	A	6: 124,574,658	D242E	probably damaging	Het
Carmil3	A	G	14: 55,499,065	N662S	probably damaging	Het
Ccno	A	G	13: 112,988,144	S83G	possibly damaging	Het
Chd3	A	T	11: 69,354,426	Y1155*	probably null	Het
Clec16a	A	G	16: 10,576,663	E295G	probably benign	Het
Clnk	A	G	5: 38,794,910		probably null	Het
Clvs2	T	C	10: 33,622,859	D25G	possibly damaging	Het
Cnr2	C	T	4: 135,917,516	R302W	probably damaging	Het
Dclk3	C	T	9: 111,468,719	R444W	possibly damaging	Het
Dmxl1	T	C	18: 49,865,116	V761A	probably damaging	Het
Dnah7a	C	A	1: 53,472,904	K2999N	possibly damaging	Het
Dusp28	T	C	1: 92,907,184	S44P	probably damaging	Het
Enpep	T	G	3: 129,309,125	N394T	probably damaging	Het
Fam135a	A	T	1: 24,021,917	F1343I	probably damaging	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Fbxo40	A	T	16: 36,970,585	H54Q	probably damaging	Het
Galnt9	A	G	5: 110,596,245	D315G	probably benign	Het
Gbp4	T	A	5: 105,119,934	D482V	probably damaging	Het
Gm17175	T	A	14: 51,571,613	I99F	possibly damaging	Het
Gm340	T	C	19: 41,585,449	I881T	possibly damaging	Het
Heatr4	A	G	12: 83,980,330	F51S	probably benign	Het
Herc1	T	C	9: 66,508,160	S4806P	probably damaging	Het
Hoxc11	G	A	15: 102,954,742	V73I	possibly damaging	Het
Knl1	T	G	2: 119,070,032	I738S	probably damaging	Het
Lipt2	T	C	7: 100,160,243	F179S	probably damaging	Het
Lrrc8b	G	A	5: 105,480,756	V323M	probably damaging	Het
Ltbp1	T	C	17: 75,292,857	S665P	probably benign	Het
Miga1	A	T	3: 152,322,408	D161E	probably benign	Het
Mynn	A	G	3: 30,603,784	T84A	probably benign	Het
Olfr1248	A	T	2: 89,617,987	D68E	probably damaging	Het
Olfr159	T	C	4: 43,770,598	S138G	possibly damaging	Het
Olfr401	T	C	11: 74,121,666	F126L	probably benign	Het
Pik3r3	C	T	4: 116,222,375	S23L	probably benign	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Ralgapa1	A	G	12: 55,659,062	S1892P	probably damaging	Het
Slc6a18	T	A	13: 73,665,574	Q540L	probably benign	Het
Tfap2a	A	T	13: 40,719,230	N323K	possibly damaging	Het
Tgm1	A	T	14: 55,705,643	M580K	probably benign	Het
Tnrc6b	G	A	15: 80,929,418	G1792D	unknown	Het
Trim66	T	A	7: 109,475,392	Q554L	possibly damaging	Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn1r238	G	T	18: 3,123,365	C16*	probably null	Het
Vmn1r6	G	A	6: 57,002,510	M52I	probably benign	Het
Zfp61	A	G	7: 24,292,034	F231L	probably benign	Het

Other mutations in Carf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Carf	APN	1	60124842	splice site	probably benign
IGL00730:Carf	APN	1	60147418	nonsense	probably null
IGL00792:Carf	APN	1	60126009	missense	possibly damaging	0.73
IGL00913:Carf	APN	1	60147955	missense	probably benign	0.20
IGL01487:Carf	APN	1	60109379	missense	probably damaging	1.00
IGL02214:Carf	APN	1	60148081	missense	probably damaging	1.00
IGL03258:Carf	APN	1	60109229	missense	possibly damaging	0.93
IGL03285:Carf	APN	1	60146154	missense	probably damaging	1.00
3-1:Carf	UTSW	1	60141468	missense	possibly damaging	0.93
PIT4283001:Carf	UTSW	1	60128002	missense	probably benign	0.32
R0375:Carf	UTSW	1	60144002	missense	probably damaging	1.00
R0465:Carf	UTSW	1	60131983	missense	probably damaging	1.00
R0591:Carf	UTSW	1	60125914	splice site	probably benign
R1158:Carf	UTSW	1	60147839	missense	probably benign	0.22
R1433:Carf	UTSW	1	60124858	missense	probably damaging	1.00
R1464:Carf	UTSW	1	60125906	splice site	probably benign
R1467:Carf	UTSW	1	60127993	missense	possibly damaging	0.58
R1467:Carf	UTSW	1	60127993	missense	possibly damaging	0.58
R1546:Carf	UTSW	1	60126036	critical splice donor site	probably null
R1801:Carf	UTSW	1	60141505	missense	possibly damaging	0.60
R1977:Carf	UTSW	1	60146136	missense	probably damaging	1.00
R2086:Carf	UTSW	1	60109411	missense	probably damaging	1.00
R2163:Carf	UTSW	1	60147486	splice site	probably benign
R2198:Carf	UTSW	1	60141484	missense	probably damaging	1.00
R2238:Carf	UTSW	1	60148034	missense	probably benign
R2981:Carf	UTSW	1	60139232	missense	probably damaging	1.00
R4090:Carf	UTSW	1	60136347	missense	possibly damaging	0.94
R4573:Carf	UTSW	1	60148112	missense	probably benign	0.39
R4737:Carf	UTSW	1	60109318	missense	probably benign	0.00
R4906:Carf	UTSW	1	60141367	missense	probably damaging	1.00
R4965:Carf	UTSW	1	60150637	missense	probably damaging	0.99
R5080:Carf	UTSW	1	60150613	missense	probably damaging	0.98
R5184:Carf	UTSW	1	60108174	missense	probably damaging	0.99
R5949:Carf	UTSW	1	60139313	missense	probably damaging	1.00
R6135:Carf	UTSW	1	60147963	missense	probably damaging	1.00
R6346:Carf	UTSW	1	60141540	nonsense	probably null
R6886:Carf	UTSW	1	60136254	splice site	probably null
R7115:Carf	UTSW	1	60148150	missense	probably damaging	1.00
R7228:Carf	UTSW	1	60109394	missense	probably damaging	0.99
R7459:Carf	UTSW	1	60128039	missense	possibly damaging	0.93
R7755:Carf	UTSW	1	60148055	missense	probably benign	0.00
R7809:Carf	UTSW	1	60144067	missense	probably damaging	0.98
R8053:Carf	UTSW	1	60128038	missense	probably benign	0.42
R8137:Carf	UTSW	1	60147965	missense	probably benign	0.00
Z1177:Carf	UTSW	1	60136262	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTGTCACCATGACCCTTTCG -3'
(R):5'- CCAGTGATTGATACACCATCTCAG -3'

Sequencing Primer
(F):5'- TAGATCAGGCCAGCCTTGTG -3'
(R):5'- TGATTGATACACCATCTCAGACAATC -3'

Posted On

2020-10-20