Mutagenetix > Incidental Mutation

Incidental Mutation 'R8257:Ankrd34a'

640498

Institutional Source

Beutler Lab

Gene Symbol

Ankrd34a

Ensembl Gene

ENSMUSG00000049097

Gene Name

ankyrin repeat domain 34A

Synonyms

Ankrd34

MMRRC Submission

067683-MU

Accession Numbers

Essential gene?

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

Stock #

R8257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96503952-96507091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96505045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 83 (H83L)

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: H83L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102707
Gene: ENSMUSG00000049097
AA Change: H83L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,950,153 (GRCm39)	K1350R	probably benign	Het
4933407L21Rik	T	A	1: 85,859,060 (GRCm39)	C70*	probably null	Het
Akr1c6	G	A	13: 4,488,525 (GRCm39)	V97I	probably benign	Het
Alg9	A	T	9: 50,690,387 (GRCm39)	I130F	possibly damaging	Het
Ankle2	G	T	5: 110,401,781 (GRCm39)		probably null	Het
Aoc1l2	A	G	6: 48,909,431 (GRCm39)	T559A	probably benign	Het
Ate1	T	C	7: 130,069,037 (GRCm39)	Y367C	probably damaging	Het
Atg9b	C	T	5: 24,591,303 (GRCm39)		probably benign	Het
Atp2c1	A	G	9: 105,308,756 (GRCm39)	S626P	probably benign	Het
Ccdc171	A	G	4: 83,614,606 (GRCm39)	N1069S	probably damaging	Het
Cdh20	A	G	1: 104,921,962 (GRCm39)	D753G	probably benign	Het
Cdk11b	A	G	4: 155,732,398 (GRCm39)	E517G	unknown	Het
Chst5	A	T	8: 112,617,092 (GRCm39)	V176E	probably damaging	Het
Ddx50	T	C	10: 62,452,299 (GRCm39)		probably benign	Het
Dspp	A	G	5: 104,324,867 (GRCm39)	D410G	probably benign	Het
Dync1h1	T	A	12: 110,602,908 (GRCm39)	V2183E	probably damaging	Het
Emilin2	A	G	17: 71,580,995 (GRCm39)	V577A	probably benign	Het
Entpd2	T	A	2: 25,288,133 (GRCm39)	L119Q	probably damaging	Het
Foxa1	A	T	12: 57,589,932 (GRCm39)	M96K	probably benign	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
H2-Aa	T	C	17: 34,502,211 (GRCm39)	T237A	probably damaging	Het
Itih4	G	A	14: 30,609,825 (GRCm39)	V52I	possibly damaging	Het
Kntc1	T	C	5: 123,896,586 (GRCm39)		probably null	Het
Lgi4	A	T	7: 30,766,766 (GRCm39)		probably null	Het
Map4k2	G	A	19: 6,396,030 (GRCm39)	R455H	probably benign	Het
Masp2	A	G	4: 148,687,497 (GRCm39)	T95A	possibly damaging	Het
Mtmr12	T	C	15: 12,259,684 (GRCm39)	I351T	possibly damaging	Het
Ncdn	A	G	4: 126,643,676 (GRCm39)		probably null	Het
Nckipsd	A	G	9: 108,692,127 (GRCm39)	E516G	probably benign	Het
Nlrp12	A	G	7: 3,297,962 (GRCm39)	W70R	probably damaging	Het
Nmral1	T	A	16: 4,534,267 (GRCm39)	D58V	probably damaging	Het
Nr2c1	A	G	10: 94,028,769 (GRCm39)	Y522C	probably damaging	Het
Or14c45	A	G	7: 86,176,678 (GRCm39)	T238A	possibly damaging	Het
Or1e23	A	G	11: 73,407,203 (GRCm39)	M274T	probably benign	Het
Or2d3b	A	G	7: 106,513,926 (GRCm39)	I174V	probably benign	Het
Or2w1b	A	G	13: 21,300,543 (GRCm39)	N227S	probably benign	Het
Pcdhga6	T	A	18: 37,841,868 (GRCm39)	N529K	probably benign	Het
Pkmyt1	C	T	17: 23,953,148 (GRCm39)	R235W	probably benign	Het
Prss43	T	C	9: 110,659,880 (GRCm39)	S315P	possibly damaging	Het
Psmd1	T	A	1: 86,006,345 (GRCm39)	V237E	probably damaging	Het
Ptprf	A	G	4: 118,083,476 (GRCm39)	Y844H	probably damaging	Het
Ryr1	C	T	7: 28,764,064 (GRCm39)	V3089I	possibly damaging	Het
Slc1a7	A	G	4: 107,865,394 (GRCm39)	D294G	possibly damaging	Het
Slc5a10	T	A	11: 61,605,873 (GRCm39)	T148S	probably damaging	Het
Spata25	T	C	2: 164,669,690 (GRCm39)	D107G	possibly damaging	Het
Stambpl1	A	G	19: 34,208,901 (GRCm39)	E132G	probably damaging	Het
Tgfb1	A	G	7: 25,396,373 (GRCm39)	H222R	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trmt1l	T	A	1: 151,304,629 (GRCm39)	M1K	probably null	Het
Vmn2r86	A	T	10: 130,288,279 (GRCm39)	H407Q	possibly damaging	Het
Wdr36	T	A	18: 32,974,339 (GRCm39)		probably benign	Het
Zfp35	T	A	18: 24,137,288 (GRCm39)	I544N	possibly damaging	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
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
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'- TGTGGGACAGGGTAAGCTAC -3'
(R):5'- GTCGTTATGATGATGACCTCCG -3'

Sequencing Primer
(F):5'- GCTACGCTTGGCCCGTTTG -3'
(R):5'- ATGATGATGACCTCCGTGCCC -3'

Posted On

2020-07-28