Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02684:Ankrd34b'

303487

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd34b

Ensembl Gene

ENSMUSG00000045034

Gene Name

ankyrin repeat domain 34B

Synonyms

6430502M16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02684

Quality Score

Status

Chromosome

Chromosomal Location

92562413-92578166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92575016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 83 (S83P)

Ref Sequence

ENSEMBL: ENSMUSP00000126289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061594] [ENSMUST00000165225] [ENSMUST00000168871]

AlphaFold

Q3UUF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000061594
AA Change: S83P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054330
Gene: ENSMUSG00000045034
AA Change: S83P

Domain	Start	End	E-Value	Type
ANK	9	38	1.96e3	SMART
ANK	42	79	2.85e-5	SMART
ANK	83	113	1.9e-1	SMART
ANK	117	146	1.99e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165225

Predicted Effect

probably damaging
Transcript: ENSMUST00000168871
AA Change: S83P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126289
Gene: ENSMUSG00000045034
AA Change: S83P

Domain	Start	End	E-Value	Type
ANK	9	38	1.96e3	SMART
ANK	42	79	2.85e-5	SMART
ANK	83	113	1.9e-1	SMART
ANK	117	146	1.99e2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,532,020 (GRCm39)	L185*	probably null	Het
Aadacl4fm5	A	G	4: 144,504,755 (GRCm39)		probably benign	Het
Actrt3	A	T	3: 30,653,840 (GRCm39)	D53E	probably benign	Het
Asap1	A	G	15: 63,966,018 (GRCm39)	V1029A	probably benign	Het
Blk	T	C	14: 63,617,143 (GRCm39)	E288G	probably benign	Het
Cep192	T	G	18: 67,967,634 (GRCm39)	V706G	probably damaging	Het
Chd2	T	C	7: 73,125,097 (GRCm39)	K908E	probably damaging	Het
Dnm1l	A	T	16: 16,139,521 (GRCm39)	I391N	possibly damaging	Het
Fmn1	A	G	2: 113,355,622 (GRCm39)	R688G	unknown	Het
Gdap2	A	G	3: 100,078,336 (GRCm39)	D100G	probably benign	Het
Gm43638	T	C	5: 87,610,769 (GRCm39)	I522V	possibly damaging	Het
Gsap	A	T	5: 21,447,801 (GRCm39)		probably null	Het
Hoxd12	A	G	2: 74,505,905 (GRCm39)	S159G	probably benign	Het
Ints7	A	G	1: 191,345,749 (GRCm39)		probably null	Het
Iqsec3	G	A	6: 121,389,900 (GRCm39)	Q524*	probably null	Het
Klra10	T	A	6: 130,258,845 (GRCm39)	H14L	possibly damaging	Het
Lratd1	T	C	12: 14,200,646 (GRCm39)	D27G	probably damaging	Het
Mettl15	T	C	2: 108,961,925 (GRCm39)	E228G	probably damaging	Het
Or51v8	T	C	7: 103,319,591 (GRCm39)	M216V	probably benign	Het
Or9s18	G	A	13: 65,300,210 (GRCm39)	M57I	probably damaging	Het
Pabpc1l	A	G	2: 163,873,197 (GRCm39)	N156D	probably benign	Het
Pkhd1l1	G	T	15: 44,379,605 (GRCm39)		probably null	Het
Pm20d1	T	A	1: 131,732,697 (GRCm39)	N345K	probably benign	Het
Rasgrp1	A	G	2: 117,113,057 (GRCm39)	V785A	probably benign	Het
Sos2	A	G	12: 69,643,440 (GRCm39)	L980S	probably damaging	Het
Stam2	A	T	2: 52,609,947 (GRCm39)	H56Q	probably damaging	Het
Trpm6	T	A	19: 18,779,571 (GRCm39)		probably benign	Het
Trpm7	A	T	2: 126,688,079 (GRCm39)	D249E	probably damaging	Het
Vmn1r203	A	T	13: 22,708,539 (GRCm39)	T107S	possibly damaging	Het
Vmn2r55	A	G	7: 12,404,887 (GRCm39)	L172P	probably damaging	Het
Vrtn	A	G	12: 84,696,923 (GRCm39)	R558G	probably benign	Het
Zfp977	A	T	7: 42,232,439 (GRCm39)	D7E	probably damaging	Het

Other mutations in Ankrd34b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Ankrd34b	APN	13	92,575,295 (GRCm39)	missense	probably benign	0.00
IGL02695:Ankrd34b	APN	13	92,576,120 (GRCm39)	missense	possibly damaging	0.91
IGL03302:Ankrd34b	APN	13	92,576,151 (GRCm39)	missense	possibly damaging	0.90
R0143:Ankrd34b	UTSW	13	92,576,268 (GRCm39)	missense	probably damaging	1.00
R1874:Ankrd34b	UTSW	13	92,576,064 (GRCm39)	missense	probably damaging	0.99
R2138:Ankrd34b	UTSW	13	92,575,914 (GRCm39)	missense	probably damaging	0.97
R2504:Ankrd34b	UTSW	13	92,575,569 (GRCm39)	splice site	probably null
R4782:Ankrd34b	UTSW	13	92,574,813 (GRCm39)	missense	probably damaging	0.98
R6123:Ankrd34b	UTSW	13	92,575,584 (GRCm39)	missense	probably damaging	1.00
R7159:Ankrd34b	UTSW	13	92,575,970 (GRCm39)	missense	probably benign	0.00
R7238:Ankrd34b	UTSW	13	92,575,139 (GRCm39)	missense	possibly damaging	0.77
R7367:Ankrd34b	UTSW	13	92,574,795 (GRCm39)	missense	probably benign	0.00
R8005:Ankrd34b	UTSW	13	92,575,230 (GRCm39)	missense	possibly damaging	0.61
R8297:Ankrd34b	UTSW	13	92,576,097 (GRCm39)	missense	probably damaging	1.00
R8970:Ankrd34b	UTSW	13	92,575,590 (GRCm39)	missense	probably benign	0.22
R8991:Ankrd34b	UTSW	13	92,575,725 (GRCm39)	missense	probably benign	0.01
R9084:Ankrd34b	UTSW	13	92,575,720 (GRCm39)	missense	probably benign	0.04
R9418:Ankrd34b	UTSW	13	92,575,232 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16