Mutagenetix > Incidental Mutation

Incidental Mutation 'R5429:Ankrd34a'

427054

Institutional Source

Beutler Lab

Gene Symbol

Ankrd34a

Ensembl Gene

ENSMUSG00000049097

Gene Name

ankyrin repeat domain 34A

Synonyms

Ankrd34

MMRRC Submission

042995-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R5429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96503952-96507091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96504837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 14 (G14R)

Ref Sequence

ENSEMBL: ENSMUSP00000102707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058943] [ENSMUST00000062058] [ENSMUST00000091924] [ENSMUST00000145001]

AlphaFold

B2RW11

Predicted Effect

probably damaging
Transcript: ENSMUST00000058943
AA Change: G14R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102707
Gene: ENSMUSG00000049097
AA Change: G14R

Domain	Start	End	E-Value	Type
ANK	4	33	9.05e2	SMART
ANK	37	72	2.81e-4	SMART
ANK	76	106	5.84e-2	SMART
ANK	110	139	7.99e2	SMART
low complexity region	216	244	N/A	INTRINSIC
low complexity region	350	366	N/A	INTRINSIC
low complexity region	431	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062058

SMART Domains

Protein: ENSMUSP00000057623
Gene: ENSMUSG00000049288

Domain	Start	End	E-Value	Type
Pfam:LIX1	80	328	8.9e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091924

SMART Domains

Protein: ENSMUSP00000089544
Gene: ENSMUSG00000028104

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_3_Rpc31	1	217	2.8e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145001

SMART Domains

Protein: ENSMUSP00000118943
Gene: ENSMUSG00000028104

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_3_Rpc31	1	148	4.4e-31	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	G	7: 75,252,652 (GRCm39)	S261A	possibly damaging	Het
Auts2	G	A	5: 131,501,173 (GRCm39)	T289M	probably damaging	Het
Btaf1	G	A	19: 36,972,257 (GRCm39)	V1331I	possibly damaging	Het
Ciz1	T	A	2: 32,266,055 (GRCm39)	I609K	possibly damaging	Het
Clca3b	C	T	3: 144,552,220 (GRCm39)	V154I	probably damaging	Het
Csde1	A	G	3: 102,960,157 (GRCm39)	T564A	possibly damaging	Het
Csrnp2	A	G	15: 100,379,935 (GRCm39)	V452A	probably benign	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Dock6	T	C	9: 21,744,177 (GRCm39)	D677G	probably damaging	Het
Filip1l	A	T	16: 57,390,618 (GRCm39)	E402V	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Ghr	G	A	15: 3,418,157 (GRCm39)	Q37*	probably null	Het
Gm10770	C	T	2: 150,021,343 (GRCm39)	R58H	probably benign	Het
Gm12789	T	C	4: 101,847,158 (GRCm39)	Y148H	possibly damaging	Het
Herc4	T	A	10: 63,110,792 (GRCm39)	N234K	probably benign	Het
Itih3	A	G	14: 30,645,478 (GRCm39)	V10A	probably benign	Het
Kat14	T	A	2: 144,235,243 (GRCm39)	D234E	probably benign	Het
Kif13a	A	G	13: 46,926,245 (GRCm39)		probably null	Het
Kif2b	A	G	11: 91,468,055 (GRCm39)	V76A	probably benign	Het
Mboat1	A	G	13: 30,403,650 (GRCm39)	T150A	probably benign	Het
Mfsd1	T	A	3: 67,507,293 (GRCm39)	L398H	probably damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nfx1	T	C	4: 41,004,343 (GRCm39)	C705R	probably damaging	Het
Or13a27	A	G	7: 139,925,186 (GRCm39)	F239L	possibly damaging	Het
Or2ak5	T	A	11: 58,611,350 (GRCm39)	N175Y	probably damaging	Het
Pcdh10	T	C	3: 45,338,635 (GRCm39)	S931P	probably benign	Het
Pdpk1	T	C	17: 24,310,534 (GRCm39)	E205G	probably benign	Het
Ppp2r2a	A	T	14: 67,261,205 (GRCm39)	F172I	probably damaging	Het
Ppp2r5e	T	A	12: 75,500,537 (GRCm39)	D452V	probably damaging	Het
Rims2	A	T	15: 39,208,751 (GRCm39)	T185S	probably damaging	Het
Rpusd4	T	C	9: 35,183,898 (GRCm39)	V209A	probably benign	Het
Safb	T	C	17: 56,895,822 (GRCm39)	V20A	probably benign	Het
Scaf8	C	A	17: 3,247,385 (GRCm39)	P903T	probably benign	Het
Slc30a7	A	G	3: 115,800,574 (GRCm39)	S31P	possibly damaging	Het
Slc9b1	T	C	3: 135,079,024 (GRCm39)		probably null	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Tbc1d32	T	C	10: 55,904,089 (GRCm39)	D1226G	probably damaging	Het
Tlnrd1	G	T	7: 83,531,522 (GRCm39)	T303N	probably damaging	Het
Tmc1	G	T	19: 20,766,986 (GRCm39)	N738K	possibly damaging	Het
Tmem41a	A	G	16: 21,753,606 (GRCm39)	I255T	probably benign	Het
Trim7	G	A	11: 48,740,782 (GRCm39)	C293Y	probably damaging	Het
Trpc6	C	T	9: 8,634,075 (GRCm39)	Q385*	probably null	Het
Ttc39b	A	G	4: 83,162,190 (GRCm39)	I330T	possibly damaging	Het
Vil1	C	T	1: 74,471,490 (GRCm39)	T757I	probably benign	Het
Zfp462	T	C	4: 55,060,077 (GRCm39)	V1201A	probably damaging	Het
Zfp473	T	A	7: 44,382,272 (GRCm39)	E686V	possibly damaging	Het
Zfp998	G	A	13: 66,579,887 (GRCm39)	P199S	probably benign	Het

Other mutations in Ankrd34a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02488:Ankrd34a	APN	3	96,506,229 (GRCm39)	missense	probably benign	0.33
R0190:Ankrd34a	UTSW	3	96,505,105 (GRCm39)	missense	probably damaging	0.99
R1940:Ankrd34a	UTSW	3	96,505,992 (GRCm39)	missense	probably benign	0.28
R3779:Ankrd34a	UTSW	3	96,506,247 (GRCm39)	missense	possibly damaging	0.85
R5427:Ankrd34a	UTSW	3	96,504,837 (GRCm39)	missense	probably damaging	0.99
R5430:Ankrd34a	UTSW	3	96,504,837 (GRCm39)	missense	probably damaging	0.99
R6129:Ankrd34a	UTSW	3	96,505,274 (GRCm39)	nonsense	probably null
R6621:Ankrd34a	UTSW	3	96,505,531 (GRCm39)	missense	possibly damaging	0.91
R6891:Ankrd34a	UTSW	3	96,505,335 (GRCm39)	missense	probably benign	0.00
R6951:Ankrd34a	UTSW	3	96,505,738 (GRCm39)	missense	possibly damaging	0.77
R7085:Ankrd34a	UTSW	3	96,505,945 (GRCm39)	missense	probably benign
R7478:Ankrd34a	UTSW	3	96,505,816 (GRCm39)	missense	possibly damaging	0.65
R8257:Ankrd34a	UTSW	3	96,505,045 (GRCm39)	missense	possibly damaging	0.93
R8746:Ankrd34a	UTSW	3	96,504,791 (GRCm39)	unclassified	probably benign
R9511:Ankrd34a	UTSW	3	96,505,401 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TTCGTTCATCGGTGCCTCAG -3'
(R):5'- TAAACGGTCTGCGATGTTGG -3'

Sequencing Primer
(F):5'- CTGAGCCTGTCAGTAAGCTC -3'
(R):5'- CTGCGATGTTGGGATCCGC -3'

Posted On

2016-09-01