Mutagenetix > Incidental Mutation

Incidental Mutation 'R8337:Ankrd34c'

644679

Institutional Source

Beutler Lab

Gene Symbol

Ankrd34c

Ensembl Gene

ENSMUSG00000047606

Gene Name

ankyrin repeat domain 34C

Synonyms

B230218L05Rik, LOC330998

MMRRC Submission

067800-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89607298-89620528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89611951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 130 (D130V)

Ref Sequence

ENSEMBL: ENSMUSP00000056787 (fasta)

Gene Model

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

AlphaFold

Q8BLB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060700
AA Change: D130V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056787
Gene: ENSMUSG00000047606
AA Change: D130V

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: D130V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140919
Gene: ENSMUSG00000047606
AA Change: D130V

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

Meta Mutation Damage Score

0.3941

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	C	16: 88,556,151 (GRCm39)	Y122H	probably damaging	Het
Abhd14b	T	A	9: 106,327,240 (GRCm39)	H7Q	probably benign	Het
Acod1	C	T	14: 103,286,780 (GRCm39)	R28W	possibly damaging	Het
Agap2	A	G	10: 126,924,194 (GRCm39)	T803A	unknown	Het
Angptl7	T	C	4: 148,581,741 (GRCm39)	E215G	probably damaging	Het
BC028528	A	G	3: 95,792,298 (GRCm39)	V144A	probably benign	Het
Cab39l	T	C	14: 59,776,640 (GRCm39)	F274L	probably damaging	Het
Cdsn	T	C	17: 35,866,415 (GRCm39)	S315P	possibly damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,718,471 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,735,394 (GRCm39)	L540*	probably null	Het
Chrna2	G	T	14: 66,387,017 (GRCm39)	E388*	probably null	Het
Ckap4	A	G	10: 84,364,460 (GRCm39)	V201A	probably damaging	Het
Clec4b1	A	G	6: 123,042,922 (GRCm39)	K47R	probably benign	Het
Clvs2	A	T	10: 33,404,484 (GRCm39)	I244N	possibly damaging	Het
Cmtr1	G	A	17: 29,893,151 (GRCm39)	E57K	probably benign	Het
Cxxc1	T	A	18: 74,353,910 (GRCm39)	D565E	possibly damaging	Het
Dtx3l	T	A	16: 35,754,073 (GRCm39)	M178L	probably benign	Het
Eml2	A	G	7: 18,930,161 (GRCm39)	D294G	possibly damaging	Het
Flt3	A	G	5: 147,269,698 (GRCm39)		probably null	Het
Frs3	T	A	17: 48,014,777 (GRCm39)	L490Q	probably damaging	Het
Gm6882	G	A	7: 21,161,559 (GRCm39)	T103I	possibly damaging	Het
Gsdmd	C	T	15: 75,736,270 (GRCm39)	T133I	probably benign	Het
Hhipl2	C	A	1: 183,209,540 (GRCm39)	C331*	probably null	Het
Ifnar1	C	A	16: 91,302,224 (GRCm39)	D566E	possibly damaging	Het
Ighv1-34	A	T	12: 114,814,939 (GRCm39)	N74K	probably benign	Het
Itk	T	C	11: 46,233,222 (GRCm39)		probably null	Het
Kdm7a	T	C	6: 39,122,461 (GRCm39)	D801G	probably benign	Het
Marchf1	T	C	8: 66,871,641 (GRCm39)	L139P	probably damaging	Het
Metap1d	T	C	2: 71,345,982 (GRCm39)	V181A	probably damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mrps25	T	C	6: 92,152,745 (GRCm39)	T92A	probably benign	Het
Mucl3	T	C	17: 35,948,486 (GRCm39)	H371R	possibly damaging	Het
Ntng2	C	A	2: 29,138,050 (GRCm39)	M1I	probably null	Het
Or51b17	C	T	7: 103,542,256 (GRCm39)	G229R	probably benign	Het
Or51q1	A	C	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or8b57	T	C	9: 40,003,695 (GRCm39)	K189R	probably benign	Het
Pla2g12a	A	G	3: 129,672,465 (GRCm39)	D33G	probably damaging	Het
Prlhr	A	G	19: 60,456,284 (GRCm39)	V94A	possibly damaging	Het
Ralgapb	T	A	2: 158,292,192 (GRCm39)	S793T	probably benign	Het
Rapgef6	T	A	11: 54,522,127 (GRCm39)	L455*	probably null	Het
Sbf2	T	C	7: 110,040,669 (GRCm39)	H386R	probably benign	Het
Sec23ip	C	A	7: 128,365,749 (GRCm39)	N539K	probably damaging	Het
Shisa4	A	G	1: 135,300,907 (GRCm39)	L121P	probably damaging	Het
Slc28a2b	C	T	2: 122,355,617 (GRCm39)	T603I	probably benign	Het
Stard9	T	A	2: 120,510,306 (GRCm39)	F296I	probably damaging	Het
Strn3	T	C	12: 51,707,955 (GRCm39)	K147E	probably damaging	Het
Taf5l	T	C	8: 124,724,841 (GRCm39)	N326S	probably benign	Het
Tfb2m	T	A	1: 179,369,914 (GRCm39)	I170L	probably benign	Het
Tfec	T	C	6: 16,845,422 (GRCm39)	N79S	possibly damaging	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Tox3	T	C	8: 91,074,507 (GRCm39)	Y24C	probably damaging	Het
Vmn2r6	A	T	3: 64,463,526 (GRCm39)	L436*	probably null	Het
Vmn2r80	A	G	10: 78,984,707 (GRCm39)	I20V	probably benign	Het
Wdr97	T	C	15: 76,245,684 (GRCm39)	V1307A		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
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
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

Predicted Primers

PCR Primer
(F):5'- CATCAGAAGGAGTTGTACACAGTG -3'
(R):5'- CGTGGACCAGCAAAGCATTAG -3'

Sequencing Primer
(F):5'- GGTGGTGACTGTCTATCTTCCAC -3'
(R):5'- GATGGTGAAATATCTGTTGGACAAC -3'

Posted On

2020-09-02