Mutagenetix > Incidental Mutation

Incidental Mutation 'R7367:Ankrd34b'

571900

Institutional Source

Beutler Lab

Gene Symbol

Ankrd34b

Ensembl Gene

ENSMUSG00000045034

Gene Name

ankyrin repeat domain 34B

Synonyms

6430502M16Rik

MMRRC Submission

045451-MU

Accession Numbers

Essential gene?

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

Stock #

R7367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92562413-92578166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92574795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 9 (T9K)

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: T9K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000054330
Gene: ENSMUSG00000045034
AA Change: T9K

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
AA Change: T9K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000168871
AA Change: T9K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000126289
Gene: ENSMUSG00000045034
AA Change: T9K

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 137,996,312 (GRCm39)	T374A	probably benign	Het
Agps	T	A	2: 75,698,657 (GRCm39)	H348Q	possibly damaging	Het
Atp10b	A	G	11: 43,138,328 (GRCm39)	Q1203R	probably damaging	Het
B4galnt4	A	G	7: 140,644,388 (GRCm39)	N123D	probably damaging	Het
Ccn6	A	G	10: 39,034,261 (GRCm39)	C114R	probably damaging	Het
Cep250	A	G	2: 155,811,227 (GRCm39)	T358A	probably benign	Het
Cfh	A	T	1: 140,014,259 (GRCm39)	H1188Q	probably damaging	Het
Cisd1	A	G	10: 71,172,190 (GRCm39)	Y31H	probably damaging	Het
Cnga1	G	A	5: 72,762,701 (GRCm39)	S271F	possibly damaging	Het
Cntnap5a	A	G	1: 116,370,025 (GRCm39)	T881A	probably benign	Het
Cracd	T	A	5: 77,004,449 (GRCm39)	L270Q	unknown	Het
Cyp2s1	A	T	7: 25,505,398 (GRCm39)	D355E	possibly damaging	Het
Dnaaf10	A	G	11: 17,182,712 (GRCm39)	Y291C	probably damaging	Het
Dnah11	T	A	12: 117,951,177 (GRCm39)	R3044W	possibly damaging	Het
Dnah17	T	C	11: 118,006,022 (GRCm39)	D730G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Flacc1	A	T	1: 58,706,023 (GRCm39)	I282N	probably benign	Het
Fsd2	A	G	7: 81,184,928 (GRCm39)	I656T	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm45871	A	T	18: 90,609,224 (GRCm39)	H154L	probably benign	Het
Golgb1	T	A	16: 36,718,908 (GRCm39)	N312K	probably benign	Het
H2ac4	A	G	13: 23,935,333 (GRCm39)	D73G	possibly damaging	Het
Hsd17b4	T	A	18: 50,288,252 (GRCm39)	H227Q	probably damaging	Het
Hsd17b6	A	T	10: 127,829,492 (GRCm39)	S237T	probably benign	Het
Htra4	A	T	8: 25,523,713 (GRCm39)	V284E	probably damaging	Het
Kcnv1	C	T	15: 44,972,638 (GRCm39)	C415Y	probably damaging	Het
Kif11	T	A	19: 37,408,789 (GRCm39)	L1037H	probably benign	Het
Lama5	T	C	2: 179,834,751 (GRCm39)	T1347A	probably benign	Het
Lrrc32	G	T	7: 98,148,086 (GRCm39)	E289*	probably null	Het
Lrrc66	T	C	5: 73,765,724 (GRCm39)	T440A	probably benign	Het
Neurl4	T	C	11: 69,799,408 (GRCm39)	L928P	probably damaging	Het
Nos2	G	A	11: 78,840,916 (GRCm39)	C788Y	possibly damaging	Het
Or2c1	A	G	16: 3,657,166 (GRCm39)	T110A	probably damaging	Het
Or4x11	A	G	2: 89,868,156 (GRCm39)	S298G	probably benign	Het
Or5m5	T	C	2: 85,814,687 (GRCm39)	W168R	possibly damaging	Het
Pafah1b3	A	G	7: 24,995,491 (GRCm39)	C156R	probably benign	Het
Pak1ip1	T	G	13: 41,162,371 (GRCm39)	N151K	probably damaging	Het
Pax7	G	A	4: 139,507,060 (GRCm39)	P326S	probably benign	Het
Pex11b	G	A	3: 96,543,994 (GRCm39)	A21T	probably damaging	Het
Pkn2	A	G	3: 142,516,488 (GRCm39)	V546A	probably benign	Het
Ppat	T	A	5: 77,067,711 (GRCm39)	R260*	probably null	Het
Ppp1r13l	C	G	7: 19,104,081 (GRCm39)	S187R	probably benign	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
R3hdm1	A	G	1: 128,081,129 (GRCm39)	D55G	possibly damaging	Het
Rev1	A	T	1: 38,113,488 (GRCm39)	Y526*	probably null	Het
Rp1	A	G	1: 4,418,221 (GRCm39)	W964R	probably benign	Het
Sarnp	A	G	10: 128,669,247 (GRCm39)	I35V	probably damaging	Het
Sec23a	T	C	12: 59,013,785 (GRCm39)	N730S	probably benign	Het
Sh3d19	A	G	3: 86,011,535 (GRCm39)	K374E	probably benign	Het
Sh3tc2	A	G	18: 62,122,577 (GRCm39)	D446G	probably benign	Het
Sugct	T	A	13: 17,819,399 (GRCm39)	I149F	probably damaging	Het
Tle2	A	G	10: 81,416,152 (GRCm39)	N142S	probably damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trpm1	T	A	7: 63,918,549 (GRCm39)	Y1514N	probably benign	Het
Ubr4	C	T	4: 139,180,002 (GRCm39)	S259L	unknown	Het
Utp20	A	T	10: 88,631,305 (GRCm39)	L892Q	probably benign	Het
Zfp956	C	T	6: 47,940,853 (GRCm39)	T404M	probably damaging	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
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
R9084:Ankrd34b	UTSW	13	92,575,720 (GRCm39)	missense	probably benign	0.04
R9418:Ankrd34b	UTSW	13	92,575,232 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGACTTGCGTTCCTGCTCC -3'
(R):5'- AACCATCTTGGCTCTACCGAC -3'

Sequencing Primer
(F):5'- TGCGTTCCTGCTCCAAGGAAG -3'
(R):5'- CGACGCTCTGTTGATCGACATG -3'

Posted On

2019-09-13