Mutagenetix > Incidental Mutation

Incidental Mutation 'R8318:Ankrd63'

641792

Institutional Source

Beutler Lab

Gene Symbol

Ankrd63

Ensembl Gene

ENSMUSG00000078137

Gene Name

ankyrin repeat domain 63

Synonyms

Gm1337, LOC383787

MMRRC Submission

067855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R8318 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118529584-118534444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118533721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 67 (V67M)

Ref Sequence

ENSEMBL: ENSMUSP00000100542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102524] [ENSMUST00000104937] [ENSMUST00000159756]

AlphaFold

A2ARS0

Predicted Effect

probably benign
Transcript: ENSMUST00000102524

SMART Domains

Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
Pfam:EF-hand_like	220	311	2.5e-24	PFAM
PLCXc	312	463	2.87e-79	SMART
low complexity region	504	518	N/A	INTRINSIC
PLCYc	547	663	2.39e-67	SMART
C2	684	783	9.17e-15	SMART
low complexity region	902	925	N/A	INTRINSIC
low complexity region	929	940	N/A	INTRINSIC
Pfam:PLC-beta_C	974	1149	4.7e-72	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000104937
AA Change: V67M

SMART Domains

Protein: ENSMUSP00000100542
Gene: ENSMUSG00000078137
AA Change: V67M

Domain	Start	End	E-Value	Type
ANK	46	79	1.87e0	SMART
ANK	83	112	3.23e-4	SMART
ANK	116	145	3.44e1	SMART
low complexity region	193	247	N/A	INTRINSIC
low complexity region	331	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159756

SMART Domains

Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
Pfam:EF-hand_like	197	288	7.1e-26	PFAM
PLCXc	289	440	2.87e-79	SMART
low complexity region	481	495	N/A	INTRINSIC
PLCYc	524	640	2.39e-67	SMART
C2	661	760	9.17e-15	SMART
low complexity region	879	902	N/A	INTRINSIC
low complexity region	906	917	N/A	INTRINSIC
Pfam:PLC-beta_C	946	1129	5.1e-68	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	T	C	8: 23,605,567 (GRCm39)	V1145A	probably damaging	Het
Ankrd35	G	A	3: 96,592,038 (GRCm39)	V775M	probably damaging	Het
Arhgef5	T	A	6: 43,252,933 (GRCm39)		probably null	Het
Atp13a2	A	T	4: 140,734,335 (GRCm39)	Q1152H	probably benign	Het
Carmil1	A	G	13: 24,220,442 (GRCm39)	L1094P	probably benign	Het
Col7a1	G	A	9: 108,787,442 (GRCm39)	A612T	unknown	Het
Csgalnact1	T	C	8: 68,913,785 (GRCm39)	E140G	probably damaging	Het
Ddx18	G	T	1: 121,493,816 (GRCm39)	A56D	probably benign	Het
Dixdc1	T	C	9: 50,595,709 (GRCm39)		probably null	Het
Dpys	G	A	15: 39,648,061 (GRCm39)	T498I	probably benign	Het
Ear6	A	G	14: 52,091,722 (GRCm39)	I90V	probably benign	Het
Egr1	T	C	18: 34,996,663 (GRCm39)	S482P	probably damaging	Het
Ehbp1	C	T	11: 22,087,980 (GRCm39)	R393Q	probably benign	Het
Enpep	A	G	3: 129,063,986 (GRCm39)	I927T	probably damaging	Het
Ermard	C	T	17: 15,242,334 (GRCm39)	T406I	possibly damaging	Het
Etl4	T	C	2: 20,793,341 (GRCm39)	S971P	probably damaging	Het
Fan1	C	A	7: 63,999,803 (GRCm39)	V861F	probably damaging	Het
Fbp1	A	G	13: 63,012,825 (GRCm39)	F328L	probably benign	Het
Fgd5	T	A	6: 91,964,477 (GRCm39)	F237I	probably benign	Het
Fmn1	T	C	2: 113,195,502 (GRCm39)	S401P	unknown	Het
Gabbr1	G	A	17: 37,373,435 (GRCm39)	E444K	probably benign	Het
Htr3b	C	A	9: 48,876,177 (GRCm39)		probably benign	Het
Ighv1-49	A	G	12: 115,019,051 (GRCm39)	F48S	probably damaging	Het
Kcnh4	A	G	11: 100,643,154 (GRCm39)	L371P	probably damaging	Het
Kcnk15	A	G	2: 163,700,189 (GRCm39)	T143A	probably damaging	Het
Klk1b4	T	G	7: 43,860,335 (GRCm39)	S150A	possibly damaging	Het
Krt6a	A	T	15: 101,602,682 (GRCm39)	M1K	probably null	Het
Lama2	G	A	10: 26,860,334 (GRCm39)	S3051L	probably damaging	Het
Lgals4	T	C	7: 28,533,940 (GRCm39)	M38T	probably benign	Het
Mdn1	T	C	4: 32,735,897 (GRCm39)		probably null	Het
Mindy1	A	G	3: 95,199,936 (GRCm39)	S246G	probably damaging	Het
Myo18a	A	G	11: 77,714,215 (GRCm39)	T770A	probably benign	Het
Or13d1	T	C	4: 52,971,104 (GRCm39)	V161A	probably benign	Het
Or4a81	C	T	2: 89,619,321 (GRCm39)	C125Y	possibly damaging	Het
Or4c116	T	A	2: 88,942,242 (GRCm39)	I205F	probably benign	Het
Pcdhb19	T	A	18: 37,630,999 (GRCm39)	S265T	possibly damaging	Het
Pcna	T	C	2: 132,093,348 (GRCm39)	Y133C	probably damaging	Het
Polr2b	A	G	5: 77,483,576 (GRCm39)	E684G	probably benign	Het
Pon2	T	C	6: 5,265,425 (GRCm39)	I321V	probably benign	Het
Prss54	T	A	8: 96,291,094 (GRCm39)	M169L	probably damaging	Het
Rps3	T	A	7: 99,132,938 (GRCm39)		probably benign	Het
Senp1	T	C	15: 97,962,748 (GRCm39)	D312G	probably damaging	Het
Serpina10	T	A	12: 103,583,107 (GRCm39)	T446S	possibly damaging	Het
Slc2a5	A	G	4: 150,224,115 (GRCm39)	D241G	possibly damaging	Het
Slc7a11	A	G	3: 50,372,435 (GRCm39)		probably null	Het
Tgfbrap1	G	C	1: 43,095,829 (GRCm39)	C536W	probably damaging	Het
Trip11	C	T	12: 101,879,063 (GRCm39)	G9S	unknown	Het
Zfp626	C	A	7: 27,517,670 (GRCm39)	T217K	possibly damaging	Het

Other mutations in Ankrd63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02807:Ankrd63	APN	2	118,533,789 (GRCm39)	unclassified	probably benign
R0827:Ankrd63	UTSW	2	118,533,034 (GRCm39)	missense	possibly damaging	0.73
R2045:Ankrd63	UTSW	2	118,533,834 (GRCm39)	unclassified	probably benign
R2230:Ankrd63	UTSW	2	118,533,846 (GRCm39)	unclassified	probably benign
R2231:Ankrd63	UTSW	2	118,533,846 (GRCm39)	unclassified	probably benign
R2232:Ankrd63	UTSW	2	118,533,846 (GRCm39)	unclassified	probably benign
R4033:Ankrd63	UTSW	2	118,533,412 (GRCm39)	unclassified	probably benign
R4175:Ankrd63	UTSW	2	118,533,100 (GRCm39)	missense	probably benign	0.01
R5226:Ankrd63	UTSW	2	118,533,736 (GRCm39)	unclassified	probably benign
R7404:Ankrd63	UTSW	2	118,533,793 (GRCm39)	missense	unknown
R8543:Ankrd63	UTSW	2	118,533,604 (GRCm39)	unclassified	probably benign
R8808:Ankrd63	UTSW	2	118,533,549 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GACTGTCGGAGTTGGAACCC -3'
(R):5'- AAGCCCAAGGACCTGTGTC -3'

Sequencing Primer
(F):5'- TGAGGGCTTGCACACAG -3'
(R):5'- GACCTGTGTCCCCGAGC -3'

Posted On

2020-07-28