Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01886:Ankrd34c'

179141

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd34c

Ensembl Gene

ENSMUSG00000047606

Gene Name

ankyrin repeat domain 34C

Synonyms

B230218L05Rik, LOC330998

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

89607298-89620528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89612318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 8 (L8M)

Ref Sequence

ENSEMBL: ENSMUSP00000140919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060700] [ENSMUST00000185470]

AlphaFold

Q8BLB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060700
AA Change: L8M

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000056787
Gene: ENSMUSG00000047606
AA Change: L8M

Domain	Start	End	E-Value	Type
ANK	10	39	1.16e3	SMART
ANK	43	80	1.46e-2	SMART
ANK	84	114	1.52e0	SMART
ANK	118	147	1.33e2	SMART
low complexity region	150	165	N/A	INTRINSIC
low complexity region	462	474	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185470
AA Change: L8M

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140919
Gene: ENSMUSG00000047606
AA Change: L8M

Domain	Start	End	E-Value	Type
ANK	10	39	1.16e3	SMART
ANK	43	80	1.46e-2	SMART
ANK	84	114	1.52e0	SMART
ANK	118	147	1.33e2	SMART
low complexity region	150	165	N/A	INTRINSIC
low complexity region	462	474	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,625,592 (GRCm39)	V136M	probably benign	Het
Anks6	C	A	4: 47,044,850 (GRCm39)	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613 (GRCm39)	N768K	probably damaging	Het
Clec7a	A	T	6: 129,440,140 (GRCm39)		probably benign	Het
Cyp3a13	G	A	5: 137,897,082 (GRCm39)	P411S	probably damaging	Het
Elavl2	A	G	4: 91,152,330 (GRCm39)	V129A	probably damaging	Het
Ercc6	T	A	14: 32,291,537 (GRCm39)	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262 (GRCm39)	K8I	probably damaging	Het
Esr1	T	A	10: 4,806,861 (GRCm39)	I259K	probably damaging	Het
Filip1l	A	G	16: 57,391,613 (GRCm39)	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814 (GRCm39)	I891F	probably damaging	Het
Kat7	T	C	11: 95,196,959 (GRCm39)	T27A	probably benign	Het
Kdm1a	A	G	4: 136,288,327 (GRCm39)		probably null	Het
Kifc5b	T	C	17: 27,151,091 (GRCm39)	V663A	probably damaging	Het
Lama1	T	G	17: 68,114,792 (GRCm39)	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984 (GRCm39)	V279I	probably benign	Het
Mast3	A	T	8: 71,234,783 (GRCm39)	L774Q	possibly damaging	Het
Med27	C	A	2: 29,303,494 (GRCm39)	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,076,372 (GRCm39)		probably benign	Het
Myoz1	T	C	14: 20,705,377 (GRCm39)	K14E	probably damaging	Het
Neb	T	C	2: 52,073,857 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,014,327 (GRCm39)	T308A	probably benign	Het
Or1l4b	A	G	2: 37,036,521 (GRCm39)	Y99C	probably damaging	Het
Or8d2b	G	T	9: 38,788,844 (GRCm39)	C124F	probably damaging	Het
Orc1	T	A	4: 108,461,154 (GRCm39)		probably null	Het
Pnkp	G	A	7: 44,511,631 (GRCm39)	A76T	probably damaging	Het
Polr3h	T	C	15: 81,801,591 (GRCm39)	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,202,328 (GRCm39)	M62K	unknown	Het
Prpf8	C	A	11: 75,386,570 (GRCm39)	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280 (GRCm38)	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,169,612 (GRCm39)	N778K	probably damaging	Het
Riok3	T	A	18: 12,272,442 (GRCm39)	N204K	probably damaging	Het
Shank3	A	G	15: 89,415,866 (GRCm39)	K650E	probably damaging	Het
Sim1	T	A	10: 50,860,411 (GRCm39)	S758T	probably damaging	Het
Slu7	T	G	11: 43,330,087 (GRCm39)	N171K	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Sult6b2	A	G	6: 142,735,852 (GRCm39)		probably null	Het
Taf6l	C	T	19: 8,755,450 (GRCm39)		probably null	Het
Ubtfl1	G	A	9: 18,321,017 (GRCm39)	V182M	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Ankrd34c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:Ankrd34c	APN	9	89,611,079 (GRCm39)	missense	probably benign	0.15
IGL01630:Ankrd34c	APN	9	89,611,879 (GRCm39)	missense	probably damaging	0.99
IGL01683:Ankrd34c	APN	9	89,611,850 (GRCm39)	missense	probably benign	0.09
IGL02323:Ankrd34c	APN	9	89,612,033 (GRCm39)	missense	possibly damaging	0.80
IGL02679:Ankrd34c	APN	9	89,612,132 (GRCm39)	missense	probably damaging	1.00
IGL03000:Ankrd34c	APN	9	89,611,239 (GRCm39)	missense	probably benign	0.00
IGL03008:Ankrd34c	APN	9	89,612,337 (GRCm39)	start codon destroyed	probably null	0.05
R0024:Ankrd34c	UTSW	9	89,611,580 (GRCm39)	missense	possibly damaging	0.93
R0107:Ankrd34c	UTSW	9	89,611,537 (GRCm39)	missense	probably benign
R1602:Ankrd34c	UTSW	9	89,611,058 (GRCm39)	missense	possibly damaging	0.66
R1879:Ankrd34c	UTSW	9	89,612,126 (GRCm39)	missense	probably damaging	1.00
R4114:Ankrd34c	UTSW	9	89,611,927 (GRCm39)	missense	probably damaging	1.00
R4115:Ankrd34c	UTSW	9	89,611,927 (GRCm39)	missense	probably damaging	1.00
R4116:Ankrd34c	UTSW	9	89,611,927 (GRCm39)	missense	probably damaging	1.00
R4291:Ankrd34c	UTSW	9	89,611,817 (GRCm39)	nonsense	probably null
R5012:Ankrd34c	UTSW	9	89,611,709 (GRCm39)	missense	probably benign	0.00
R5020:Ankrd34c	UTSW	9	89,611,759 (GRCm39)	missense	probably benign	0.16
R5747:Ankrd34c	UTSW	9	89,611,814 (GRCm39)	missense	possibly damaging	0.60
R6766:Ankrd34c	UTSW	9	89,611,381 (GRCm39)	missense	probably benign
R7011:Ankrd34c	UTSW	9	89,611,001 (GRCm39)	nonsense	probably null
R7614:Ankrd34c	UTSW	9	89,610,914 (GRCm39)	missense	probably damaging	0.96
R7651:Ankrd34c	UTSW	9	89,611,463 (GRCm39)	missense	possibly damaging	0.84
R8006:Ankrd34c	UTSW	9	89,611,889 (GRCm39)	missense	probably damaging	1.00
R8082:Ankrd34c	UTSW	9	89,610,768 (GRCm39)	missense	probably damaging	1.00
R8337:Ankrd34c	UTSW	9	89,611,951 (GRCm39)	missense	probably damaging	0.98
R8891:Ankrd34c	UTSW	9	89,612,143 (GRCm39)	missense	probably damaging	1.00
R9245:Ankrd34c	UTSW	9	89,610,940 (GRCm39)	missense	probably damaging	0.97
R9361:Ankrd34c	UTSW	9	89,612,183 (GRCm39)	missense	probably damaging	0.98
R9392:Ankrd34c	UTSW	9	89,611,787 (GRCm39)	missense	possibly damaging	0.82
X0022:Ankrd34c	UTSW	9	89,611,879 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07