Mutagenetix > Incidental Mutation

Incidental Mutation 'R6951:Ankrd34a'

541258

Institutional Source

Beutler Lab

Gene Symbol

Ankrd34a

Ensembl Gene

ENSMUSG00000049097

Gene Name

ankyrin repeat domain 34A

Synonyms

Ankrd34

MMRRC Submission

045063-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R6951 (G1)

Quality Score

194.009

Status

Validated

Chromosome

Chromosomal Location

96503952-96507091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96505738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 314 (N314S)

Ref Sequence

ENSEMBL: ENSMUSP00000102707 (fasta)

Gene Model

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

AlphaFold

B2RW11

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058943
AA Change: N314S

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102707
Gene: ENSMUSG00000049097
AA Change: N314S

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

0.0919

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.0%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef3	A	T	14: 26,865,975 (GRCm39)		probably benign	Het
Bmp1	T	C	14: 70,746,298 (GRCm39)	R114G	probably benign	Het
Cenpf	A	G	1: 189,385,989 (GRCm39)	L2097P	probably damaging	Het
Cgas	A	G	9: 78,349,840 (GRCm39)	V174A	probably damaging	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnase2a	A	T	8: 85,636,254 (GRCm39)	N130I	possibly damaging	Het
Dpp10	C	T	1: 123,269,379 (GRCm39)	V677M	possibly damaging	Het
Dsp	G	A	13: 38,351,622 (GRCm39)	C147Y	possibly damaging	Het
Ecpas	A	G	4: 58,853,114 (GRCm39)		probably null	Het
Esyt2	A	G	12: 116,287,750 (GRCm39)	T223A	probably benign	Het
Fndc5	G	A	4: 129,032,573 (GRCm39)	V59I	possibly damaging	Het
Fsip2	A	G	2: 82,812,293 (GRCm39)	T2871A	possibly damaging	Het
H2-Eb1	A	T	17: 34,528,831 (GRCm39)	R121*	probably null	Het
Hydin	A	G	8: 111,124,757 (GRCm39)	I589V	probably benign	Het
Kitl	A	G	10: 99,887,714 (GRCm39)	I48V	probably damaging	Het
Large1	A	G	8: 73,843,047 (GRCm39)	S159P	probably damaging	Het
Lrba	T	C	3: 86,653,180 (GRCm39)	L2570P	probably benign	Het
Mag	G	A	7: 30,610,858 (GRCm39)	T128I	possibly damaging	Het
Mkrn3	G	T	7: 62,068,881 (GRCm39)	D303E	possibly damaging	Het
Myo9a	A	G	9: 59,802,051 (GRCm39)	D1951G	probably damaging	Het
Nup85	C	T	11: 115,473,781 (GRCm39)	T565I	possibly damaging	Het
Or5l13	T	C	2: 87,780,323 (GRCm39)	I85V	possibly damaging	Het
Or8b1d	A	G	9: 38,558,170 (GRCm39)	S217P	probably damaging	Het
Or8b43	A	G	9: 38,360,234 (GRCm39)	D22G	probably benign	Het
Or8k31-ps1	T	C	2: 86,355,993 (GRCm39)	H176R	probably damaging	Het
Pdzrn3	A	T	6: 101,131,153 (GRCm39)		probably null	Het
Picalm	T	A	7: 89,840,583 (GRCm39)	N434K	probably damaging	Het
Platr25	A	C	13: 62,853,562 (GRCm39)	D77E	probably benign	Het
Prr22	A	T	17: 57,079,028 (GRCm39)	R394*	probably null	Het
Psg23	A	T	7: 18,348,636 (GRCm39)	L57Q	probably damaging	Het
Rap1gap2	G	A	11: 74,375,774 (GRCm39)	S44L	possibly damaging	Het
Rffl	A	G	11: 82,736,576 (GRCm39)		probably null	Het
Stox2	G	A	8: 47,656,167 (GRCm39)	T103I	probably damaging	Het
Swt1	T	C	1: 151,273,019 (GRCm39)	N543S	possibly damaging	Het
Tep1	C	T	14: 51,071,370 (GRCm39)		probably null	Het
Tln2	A	G	9: 67,165,767 (GRCm39)	Y1023H	probably damaging	Het
Tssk5	C	A	15: 76,257,096 (GRCm39)	R262L	possibly damaging	Het
Ttn	C	T	2: 76,710,986 (GRCm39)		probably benign	Het
Ubtfl1	A	T	9: 18,320,873 (GRCm39)	I134F	probably benign	Het
Unc80	T	C	1: 66,687,670 (GRCm39)	F2351S	possibly damaging	Het
Vps13a	A	T	19: 16,701,104 (GRCm39)	D688E	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
R5429: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
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'- CTCAAAAGGCTCAATTCCGAG -3'
(R):5'- GAAACCTGGTCGTGTTTGCG -3'

Sequencing Primer
(F):5'- TCAATTCCGAGCCCTGGG -3'
(R):5'- GCAGACTTTCCTGGGACTG -3'

Posted On

2018-11-28