Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02695:Ankrd34b'

303883

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 #

IGL02695

Quality Score

Status

Chromosome

Chromosomal Location

92562413-92578166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92576120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 451 (H451N)

Ref Sequence

ENSEMBL: ENSMUSP00000126289 (fasta)

Gene Model

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

AlphaFold

Q3UUF8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061594
AA Change: H451N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054330
Gene: ENSMUSG00000045034
AA Change: H451N

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

possibly damaging
Transcript: ENSMUST00000168871
AA Change: H451N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126289
Gene: ENSMUSG00000045034
AA Change: H451N

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,287,929 (GRCm39)	M389K	probably benign	Het
Adamts4	C	A	1: 171,080,203 (GRCm39)	T252K	probably damaging	Het
Adgrb2	G	A	4: 129,912,625 (GRCm39)	G1293D	probably damaging	Het
Ankfn1	T	C	11: 89,282,645 (GRCm39)	E1013G	probably damaging	Het
Cd300c2	C	T	11: 114,892,379 (GRCm39)		probably benign	Het
Cntnap3	T	G	13: 64,919,946 (GRCm39)	Q637P	probably benign	Het
Cpne6	A	T	14: 55,752,037 (GRCm39)	I265F	probably damaging	Het
Dot1l	C	A	10: 80,613,442 (GRCm39)	T18K	probably damaging	Het
Fam83c	T	C	2: 155,673,435 (GRCm39)	D251G	probably benign	Het
Fyb1	A	G	15: 6,610,402 (GRCm39)	K325R	probably damaging	Het
Gas2l2	T	A	11: 83,313,468 (GRCm39)	I615F	probably damaging	Het
Gigyf2	A	G	1: 87,344,549 (GRCm39)	N494S	probably benign	Het
Gnaz	T	C	10: 74,827,974 (GRCm39)		probably null	Het
Haus5	A	T	7: 30,362,702 (GRCm39)	L36Q	probably damaging	Het
Hecw2	C	T	1: 53,965,368 (GRCm39)	G486D	possibly damaging	Het
Hmcn2	T	C	2: 31,298,985 (GRCm39)	F2777S	possibly damaging	Het
Il1rl1	T	C	1: 40,485,718 (GRCm39)	S290P	possibly damaging	Het
Itgam	G	T	7: 127,685,113 (GRCm39)	A409S	possibly damaging	Het
Kdm5b	T	A	1: 134,532,223 (GRCm39)	M467K	possibly damaging	Het
Lama2	A	C	10: 26,876,771 (GRCm39)	V2725G	probably benign	Het
Lhpp	G	A	7: 132,252,063 (GRCm39)	R234Q	probably damaging	Het
Maf1	T	C	15: 76,236,955 (GRCm39)	S65P	possibly damaging	Het
Mgat5	T	A	1: 127,339,868 (GRCm39)	H416Q	probably damaging	Het
Mta2	A	G	19: 8,925,728 (GRCm39)	T408A	probably benign	Het
Neb	T	A	2: 52,145,603 (GRCm39)	I2974F	probably damaging	Het
Neb	C	T	2: 52,101,608 (GRCm39)		probably benign	Het
Or1j19	C	T	2: 36,677,332 (GRCm39)	S265L	possibly damaging	Het
Or2d4	A	G	7: 106,543,870 (GRCm39)	S113P	possibly damaging	Het
Or52p1	A	G	7: 104,267,678 (GRCm39)	H264R	probably damaging	Het
Or5w22	C	T	2: 87,362,461 (GRCm39)	T28I	probably benign	Het
Pcca	T	A	14: 122,820,150 (GRCm39)		probably benign	Het
Prlr	T	C	15: 10,328,451 (GRCm39)	F309L	probably benign	Het
Slc28a1	A	T	7: 80,817,739 (GRCm39)	Y536F	probably benign	Het
Slco1a8	A	G	6: 141,933,486 (GRCm39)	V433A	probably damaging	Het
Stab1	T	A	14: 30,881,228 (GRCm39)	N601Y	probably damaging	Het
Stil	G	T	4: 114,873,372 (GRCm39)	V332F	probably damaging	Het
Stk11	A	G	10: 79,961,311 (GRCm39)		probably null	Het
Tmem59	A	G	4: 107,050,511 (GRCm39)	N147S	probably benign	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
IGL02684:Ankrd34b	APN	13	92,575,016 (GRCm39)	missense	probably damaging	0.99
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