Mutagenetix > Incidental Mutation

Incidental Mutation 'R2231:Ankrd63'

240028

Institutional Source

Beutler Lab

Gene Symbol

Ankrd63

Ensembl Gene

ENSMUSG00000078137

Gene Name

ankyrin repeat domain 63

Synonyms

Gm1337, LOC383787

MMRRC Submission

040232-MU

Accession Numbers

Essential gene?

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

Stock #

R2231 (G1)

Quality Score

110

Status

Not validated

Chromosome

Chromosomal Location

118529584-118534444 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 118533846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124364 (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: V25A

SMART Domains

Protein: ENSMUSP00000100542
Gene: ENSMUSG00000078137
AA Change: V25A

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

noncoding transcript
Transcript: ENSMUST00000129153

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

Meta Mutation Damage Score

0.0988

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	G	A	1: 36,739,440 (GRCm39)	R336W	probably damaging	Het
Alkbh6	G	A	7: 30,012,015 (GRCm39)		probably null	Het
Arsa	T	C	15: 89,359,925 (GRCm39)	M1V	probably null	Het
Cblb	T	A	16: 52,014,635 (GRCm39)	S895T	probably benign	Het
Cdk8	A	T	5: 146,168,414 (GRCm39)		probably benign	Het
Coch	G	A	12: 51,649,648 (GRCm39)	V320I	probably benign	Het
Cyp2c68	T	A	19: 39,687,804 (GRCm39)	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dnah5	G	A	15: 28,408,563 (GRCm39)		probably null	Het
Eif2b5	T	C	16: 20,323,520 (GRCm39)	Y424H	probably benign	Het
Enoph1	C	T	5: 100,188,136 (GRCm39)	T20I	probably damaging	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
L1cam	T	A	X: 72,904,947 (GRCm39)	N503I	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Nup153	A	G	13: 46,863,103 (GRCm39)		probably null	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Or5b12b	A	G	19: 12,861,313 (GRCm39)	I23V	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Pdk3	G	T	X: 92,857,604 (GRCm39)	N59K	probably damaging	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plekhd1	T	C	12: 80,768,725 (GRCm39)	F403L	possibly damaging	Het
Pou5f1	A	G	17: 35,820,959 (GRCm39)	T134A	probably benign	Het
Ppp3r1	G	A	11: 17,143,115 (GRCm39)	G68R	probably damaging	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sacs	A	G	14: 61,443,378 (GRCm39)		probably null	Het
Sbno1	A	T	5: 124,543,767 (GRCm39)	D257E	probably damaging	Het
Scn10a	T	C	9: 119,462,916 (GRCm39)	E1040G	possibly damaging	Het
Sgce	T	C	6: 4,730,066 (GRCm39)	K53E	probably benign	Het
Slc6a11	A	G	6: 114,171,590 (GRCm39)	T254A	probably damaging	Het
Spag1	A	G	15: 36,191,313 (GRCm39)	Y180C	probably benign	Het
Ssna1	G	T	2: 25,162,019 (GRCm39)	N58K	possibly damaging	Het
Tbx3	C	A	5: 119,815,589 (GRCm39)	N296K	probably damaging	Het
Tcerg1	A	G	18: 42,657,309 (GRCm39)	T264A	unknown	Het
Trdmt1	A	T	2: 13,530,436 (GRCm39)	F82I	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Usp33	C	T	3: 152,079,023 (GRCm39)	A425V	probably benign	Het
Zfp92	G	T	X: 72,466,358 (GRCm39)	L450F	possibly damaging	Het
Zw10	C	T	9: 48,975,421 (GRCm39)	T282M	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
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
R8318:Ankrd63	UTSW	2	118,533,721 (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'- CTGAACTGCACCAGGAGCTG -3'
(R):5'- CTTGGAAAGAGCGGTACCG -3'

Sequencing Primer
(F):5'- TGCACGGCGTCTAAGTG -3'
(R):5'- GAGCCATGCTCAAGCCC -3'

Posted On

2014-10-15