Mutagenetix > Incidental Mutation

Incidental Mutation 'R9084:Ankrd34b'

690487

Institutional Source

Beutler Lab

Gene Symbol

Ankrd34b

Ensembl Gene

ENSMUSG00000045034

Gene Name

ankyrin repeat domain 34B

Synonyms

6430502M16Rik

MMRRC Submission

068903-MU

Accession Numbers

Essential gene?

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

Stock #

R9084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92562413-92578166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92575720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 317 (D317E)

Ref Sequence

ENSEMBL: ENSMUSP00000054330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061594] [ENSMUST00000165225] [ENSMUST00000168871]

AlphaFold

Q3UUF8

Predicted Effect

probably benign
Transcript: ENSMUST00000061594
AA Change: D317E

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000054330
Gene: ENSMUSG00000045034
AA Change: D317E

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 benign
Transcript: ENSMUST00000168871
AA Change: D317E

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126289
Gene: ENSMUSG00000045034
AA Change: D317E

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,892,016 (GRCm39)	K93E	probably damaging	Het
Adam21	T	C	12: 81,606,160 (GRCm39)	Y534C	probably damaging	Het
Add1	A	G	5: 34,763,186 (GRCm39)	T125A	probably damaging	Het
Ank3	T	C	10: 69,786,879 (GRCm39)	V981A	probably benign	Het
Arhgap9	T	C	10: 127,158,114 (GRCm39)	S44P	possibly damaging	Het
Atg7	T	C	6: 114,678,896 (GRCm39)	S370P	probably damaging	Het
Atp1b2	T	C	11: 69,492,388 (GRCm39)	D224G	probably damaging	Het
C1qtnf6	T	C	15: 78,409,283 (GRCm39)	Y188C	probably damaging	Het
Col22a1	T	C	15: 71,691,929 (GRCm39)	D1297G	unknown	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Csmd1	T	C	8: 16,138,325 (GRCm39)	I1576V	probably benign	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dusp6	T	C	10: 99,099,692 (GRCm39)	S47P	probably benign	Het
Fam163a	T	A	1: 155,955,730 (GRCm39)	I21F	probably damaging	Het
Fer1l5	A	G	1: 36,429,619 (GRCm39)	D457G	probably benign	Het
Fyn	C	T	10: 39,402,845 (GRCm39)	R206C	probably damaging	Het
Git2	G	T	5: 114,902,515 (GRCm39)	H172Q	probably damaging	Het
Gm21698	T	A	5: 26,190,244 (GRCm39)	H151L	probably damaging	Het
Gm4924	T	A	10: 82,213,953 (GRCm39)	C584S	unknown	Het
Hspb8	A	G	5: 116,560,492 (GRCm39)	L16P	probably benign	Het
Ipo9	T	C	1: 135,334,563 (GRCm39)	H282R	probably benign	Het
Kcnn1	GTCCTCCTCCTCCTCCTCCTC	GTCCTCCTCCTCCTCCTC	8: 71,307,810 (GRCm39)		probably benign	Het
Kmt2a	T	C	9: 44,740,130 (GRCm39)	D1871G	unknown	Het
Lrrk2	A	T	15: 91,634,469 (GRCm39)	Q1411L		Het
Med13	A	G	11: 86,191,621 (GRCm39)	S914P	probably damaging	Het
Med15	T	C	16: 17,471,072 (GRCm39)	H706R	probably damaging	Het
Mfsd2a	T	C	4: 122,843,994 (GRCm39)	Y325C	probably damaging	Het
Mrpl9	T	A	3: 94,354,558 (GRCm39)		probably benign	Het
Ncoa2	A	C	1: 13,244,653 (GRCm39)	S682A	probably damaging	Het
Nfe2l1	A	T	11: 96,710,957 (GRCm39)	M424K	probably damaging	Het
Nid1	T	C	13: 13,652,925 (GRCm39)		probably null	Het
Or1f19	T	G	16: 3,410,617 (GRCm39)	M119R	probably damaging	Het
Or4f7	A	G	2: 111,644,996 (GRCm39)	L25P	probably damaging	Het
Or4k15b	T	C	14: 50,271,916 (GRCm39)	I315V	probably benign	Het
Or6c69c	A	T	10: 129,910,941 (GRCm39)	M221L	probably benign	Het
Or6c69c	G	C	10: 129,910,969 (GRCm39)	S230T	probably benign	Het
Or6d15	C	T	6: 116,559,232 (GRCm39)	R225H	probably benign	Het
Or8g33	A	T	9: 39,337,521 (GRCm39)	V282E	probably damaging	Het
Pcnt	T	C	10: 76,235,826 (GRCm39)	D1385G	probably benign	Het
Pcx	A	G	19: 4,669,868 (GRCm39)	Y846C	probably damaging	Het
Prune2	A	G	19: 17,097,741 (GRCm39)	M1082V	probably damaging	Het
Ptprm	A	C	17: 67,263,948 (GRCm39)	V433G	possibly damaging	Het
Pvr	G	T	7: 19,650,937 (GRCm39)	Q196K	possibly damaging	Het
Reck	A	G	4: 43,922,809 (GRCm39)		probably benign	Het
Ripk2	T	C	4: 16,123,795 (GRCm39)	D460G	probably damaging	Het
Ryr2	T	C	13: 11,616,724 (GRCm39)	D3898G	probably damaging	Het
Skint8	A	G	4: 111,794,210 (GRCm39)	H200R	probably benign	Het
Slamf1	A	T	1: 171,602,522 (GRCm39)	D83V	probably damaging	Het
Snx25	T	C	8: 46,521,203 (GRCm39)	*143W	probably null	Het
Spata31d1c	A	G	13: 65,182,959 (GRCm39)	D167G	probably benign	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Syne1	T	A	10: 5,289,240 (GRCm39)	D1420V	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tmem116	A	G	5: 121,627,387 (GRCm39)	S211G		Het
Tmprss6	C	T	15: 78,338,417 (GRCm39)	V310M	probably damaging	Het
Ttn	A	G	2: 76,612,722 (GRCm39)	I17119T	probably damaging	Het
Tubb1	T	A	2: 174,299,197 (GRCm39)	M293K	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Uncx	T	C	5: 139,529,753 (GRCm39)	M2T	possibly damaging	Het
Washc4	T	C	10: 83,422,499 (GRCm39)	F943L	possibly damaging	Het
Xkr9	G	A	1: 13,742,733 (GRCm39)	C6Y	probably benign	Het
Zfp458	A	T	13: 67,407,633 (GRCm39)	V74E	probably benign	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
R6123:Ankrd34b	UTSW	13	92,575,584 (GRCm39)	missense	probably damaging	1.00
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
R9418:Ankrd34b	UTSW	13	92,575,232 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATTAAAGCACCAGGCCAG -3'
(R):5'- TGCCATCTTCTACGGTTGGAG -3'

Sequencing Primer
(F):5'- AGAGTGGCCTCCTTGCAAGAG -3'
(R):5'- CTACGGTTGGAGGGGTGACAC -3'

Posted On

2021-12-30