Mutagenetix > Incidental Mutation

Incidental Mutation 'R6123:Ankrd34b'

485847

Institutional Source

Beutler Lab

Gene Symbol

Ankrd34b

Ensembl Gene

ENSMUSG00000045034

Gene Name

ankyrin repeat domain 34B

Synonyms

6430502M16Rik

MMRRC Submission

044270-MU

Accession Numbers

Essential gene?

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

Stock #

R6123 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92562413-92578166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92575584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 272 (E272G)

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: E272G

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

SMART Domains

Protein: ENSMUSP00000054330
Gene: ENSMUSG00000045034
AA Change: E272G

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: E272G

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

SMART Domains

Protein: ENSMUSP00000126289
Gene: ENSMUSG00000045034
AA Change: E272G

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	A	G	4: 152,284,402 (GRCm39)	E24G	probably benign	Het
Arhgef18	A	T	8: 3,487,091 (GRCm39)	N270I	probably damaging	Het
AU040320	A	G	4: 126,763,179 (GRCm39)		probably benign	Het
Btnl10	C	A	11: 58,811,130 (GRCm39)	S151Y	probably damaging	Het
Ccdc146	C	A	5: 21,510,595 (GRCm39)	R504I	possibly damaging	Het
Ckmt1	C	G	2: 121,194,060 (GRCm39)	R408G	probably benign	Het
Clba1	T	C	12: 112,774,530 (GRCm39)	F153L	probably damaging	Het
Cyp2j6	A	T	4: 96,406,266 (GRCm39)	*502R	probably null	Het
Dido1	A	T	2: 180,325,760 (GRCm39)	V476E	probably benign	Het
Dnah2	T	C	11: 69,409,185 (GRCm39)	K398E	probably benign	Het
E130308A19Rik	A	G	4: 59,737,565 (GRCm39)	Y392C	probably damaging	Het
Esf1	T	A	2: 140,010,309 (GRCm39)	D9V	probably benign	Het
Fam168a	A	G	7: 100,473,357 (GRCm39)	Q82R	probably damaging	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Gm14496	T	A	2: 181,633,020 (GRCm39)	M1K	probably null	Het
Gm6665	A	G	18: 31,952,937 (GRCm39)	M79T	probably benign	Het
Gna15	A	G	10: 81,345,178 (GRCm39)	L229P	probably damaging	Het
Herc1	A	G	9: 66,404,532 (GRCm39)	T4451A	probably damaging	Het
Igf2bp1	A	G	11: 95,866,122 (GRCm39)	V122A	probably damaging	Het
Ighv5-4	A	T	12: 113,561,313 (GRCm39)	S36T	probably damaging	Het
Ints3	A	G	3: 90,320,861 (GRCm39)	V186A	probably benign	Het
Jrk	A	G	15: 74,578,529 (GRCm39)	I252T	possibly damaging	Het
Kcnh5	T	C	12: 75,134,365 (GRCm39)	S395G	probably benign	Het
Kcnt2	C	T	1: 140,290,718 (GRCm39)	P103S	probably damaging	Het
Klra10	T	C	6: 130,256,339 (GRCm39)	K105R	probably benign	Het
P4ha1	A	T	10: 59,186,349 (GRCm39)	K276I	possibly damaging	Het
Pcyox1	A	G	6: 86,365,910 (GRCm39)	S435P	possibly damaging	Het
Potegl	T	C	2: 23,120,134 (GRCm39)	Y235H	possibly damaging	Het
Pramel26	A	T	4: 143,539,334 (GRCm39)	M53K	possibly damaging	Het
R3hdm1	A	T	1: 128,096,773 (GRCm39)	N103I	probably damaging	Het
Rnf213	T	C	11: 119,302,339 (GRCm39)	V421A	probably damaging	Het
Rnpc3	A	T	3: 113,402,705 (GRCm39)		probably null	Het
Scaf11	A	G	15: 96,318,335 (GRCm39)	S410P	probably benign	Het
Slc16a1	A	G	3: 104,560,510 (GRCm39)	T272A	probably benign	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Slitrk3	T	C	3: 72,957,095 (GRCm39)	D559G	probably damaging	Het
Sntb2	G	A	8: 107,707,857 (GRCm39)	G207D	probably damaging	Het
Spata31f1e	A	G	4: 42,793,065 (GRCm39)	S356P	possibly damaging	Het
Spdye4a	T	C	5: 143,211,473 (GRCm39)	I30M	possibly damaging	Het
Thumpd1	A	T	7: 119,316,232 (GRCm39)	V239E	probably damaging	Het
Tnfsf15	T	C	4: 63,663,162 (GRCm39)	S54G	probably benign	Het
Tor1aip1	A	G	1: 155,882,951 (GRCm39)	I299T	probably damaging	Het
Tpst2	C	T	5: 112,456,084 (GRCm39)	R208C	probably damaging	Het
Tubgcp2	T	C	7: 139,587,510 (GRCm39)	Y285C	probably damaging	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Washc5	A	G	15: 59,206,959 (GRCm39)	S1105P	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
IGL02684:Ankrd34b	APN	13	92,575,016 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CTGACACTCTTTGGCTTCAAGG -3'
(R):5'- GGAATCTCCACGCTTGTCTG -3'

Sequencing Primer
(F):5'- CACTCTTTGGCTTCAAGGATAAGGAG -3'
(R):5'- ACGCTTGTCTGGCTTCC -3'

Posted On

2017-08-16