Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02679:Ankrd34c'

303274

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: 0.063) question?

Stock #

IGL02679

Quality Score

Status

Chromosome

Chromosomal Location

89607298-89620528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89612132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 70 (Y70N)

Ref Sequence

ENSEMBL: ENSMUSP00000140919 (fasta)

Gene Model

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

AlphaFold

Q8BLB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060700
AA Change: Y70N

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

SMART Domains

Protein: ENSMUSP00000056787
Gene: ENSMUSG00000047606
AA Change: Y70N

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

probably damaging
Transcript: ENSMUST00000185470
AA Change: Y70N

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

SMART Domains

Protein: ENSMUSP00000140919
Gene: ENSMUSG00000047606
AA Change: Y70N

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930442H23Rik	T	A	10: 81,018,813 (GRCm39)		probably benign	Het
Adam5	A	T	8: 25,296,542 (GRCm39)	Y302N	probably damaging	Het
Asph	G	A	4: 9,601,349 (GRCm39)	P190S	possibly damaging	Het
Atp6v1h	T	C	1: 5,194,525 (GRCm39)	C235R	probably damaging	Het
Brwd1	A	G	16: 95,804,023 (GRCm39)	L2049P	probably benign	Het
Capn2	T	A	1: 182,300,149 (GRCm39)	I614F	probably benign	Het
Ccdc126	T	A	6: 49,310,995 (GRCm39)	M1K	probably null	Het
Cdh9	T	C	15: 16,832,316 (GRCm39)	I401T	probably damaging	Het
Cep57l1	T	C	10: 41,605,382 (GRCm39)	E121G	probably damaging	Het
Cfap46	A	G	7: 139,194,386 (GRCm39)	I2276T	probably damaging	Het
Cnnm3	T	C	1: 36,559,239 (GRCm39)	S490P	probably benign	Het
D430041D05Rik	C	T	2: 104,060,650 (GRCm39)	V731I	possibly damaging	Het
Dynlt2b	T	C	16: 32,244,125 (GRCm39)	V107A	possibly damaging	Het
Fgf3	C	A	7: 144,394,487 (GRCm39)	N100K	probably damaging	Het
Gas7	G	A	11: 67,566,553 (GRCm39)		probably null	Het
Gfm1	C	T	3: 67,382,100 (GRCm39)	P725S	possibly damaging	Het
Gimap4	T	A	6: 48,667,429 (GRCm39)	C61*	probably null	Het
Greb1	C	T	12: 16,758,724 (GRCm39)	R664Q	probably damaging	Het
Kpnb1	T	A	11: 97,068,086 (GRCm39)	I295F	possibly damaging	Het
Lamc3	A	G	2: 31,835,410 (GRCm39)	E1577G	probably benign	Het
Lrrk1	C	T	7: 65,924,620 (GRCm39)	V235M	probably damaging	Het
Meak7	A	T	8: 120,499,149 (GRCm39)	D114E	probably benign	Het
Mipol1	T	A	12: 57,352,829 (GRCm39)	V56E	possibly damaging	Het
Mycbp2	T	C	14: 103,442,621 (GRCm39)	I1927V	probably benign	Het
Ncaph	A	T	2: 126,966,784 (GRCm39)	N223K	possibly damaging	Het
Nipbl	A	G	15: 8,325,037 (GRCm39)	M2542T	probably benign	Het
Nolc1	C	A	19: 46,071,468 (GRCm39)		probably benign	Het
Or10j5	G	A	1: 172,784,743 (GRCm39)	C127Y	probably damaging	Het
Or51h1	A	G	7: 102,308,384 (GRCm39)	M119V	possibly damaging	Het
Pkhd1l1	T	C	15: 44,393,441 (GRCm39)		probably null	Het
Ppat	A	T	5: 77,067,316 (GRCm39)	C306S	probably benign	Het
Ptpn13	A	T	5: 103,717,320 (GRCm39)	M1821L	possibly damaging	Het
Rabl3	C	T	16: 37,362,287 (GRCm39)	S42L	probably damaging	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rfx3	G	A	19: 27,827,137 (GRCm39)	H150Y	possibly damaging	Het
Rngtt	A	G	4: 33,356,098 (GRCm39)	M312V	possibly damaging	Het
Slc10a2	T	A	8: 5,148,499 (GRCm39)	T149S	probably damaging	Het
Spata21	T	C	4: 140,838,576 (GRCm39)		probably benign	Het
Stx8	G	T	11: 67,860,598 (GRCm39)	W6C	probably damaging	Het
Tcn2	T	C	11: 3,877,504 (GRCm39)	E48G	possibly damaging	Het
Tecpr1	A	T	5: 144,143,364 (GRCm39)	N670K	probably benign	Het
Tmem255b	G	A	8: 13,507,055 (GRCm39)	M240I	probably benign	Het
Ubr4	G	A	4: 139,186,445 (GRCm39)	E651K	probably damaging	Het
Ubr5	T	C	15: 38,002,558 (GRCm39)	T1498A	probably benign	Het
Vmn2r95	G	A	17: 18,664,116 (GRCm39)	C445Y	probably damaging	Het
Zfp429	T	A	13: 67,547,855 (GRCm39)		probably benign	Het
Zfp804b	T	G	5: 6,821,392 (GRCm39)	D557A	possibly damaging	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
IGL01886:Ankrd34c	APN	9	89,612,318 (GRCm39)	missense	possibly damaging	0.71
IGL02323:Ankrd34c	APN	9	89,612,033 (GRCm39)	missense	possibly damaging	0.80
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

2015-04-16