Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02323:Ankrd34c'

288315

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd34c

Ensembl Gene

ENSMUSG00000047606

Gene Name

ankyrin repeat domain 34C

Synonyms

B230218L05Rik, LOC330998

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02323

Quality Score

Status

Chromosome

Chromosomal Location

89607298-89620528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89612033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 103 (S103A)

Ref Sequence

ENSEMBL: ENSMUSP00000140919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060700] [ENSMUST00000185470]

AlphaFold

Q8BLB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060700
AA Change: S103A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056787
Gene: ENSMUSG00000047606
AA Change: S103A

Domain	Start	End	E-Value	Type
ANK	10	39	1.16e3	SMART
ANK	43	80	1.46e-2	SMART
ANK	84	114	1.52e0	SMART
ANK	118	147	1.33e2	SMART
low complexity region	150	165	N/A	INTRINSIC
low complexity region	462	474	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185470
AA Change: S103A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140919
Gene: ENSMUSG00000047606
AA Change: S103A

Domain	Start	End	E-Value	Type
ANK	10	39	1.16e3	SMART
ANK	43	80	1.46e-2	SMART
ANK	84	114	1.52e0	SMART
ANK	118	147	1.33e2	SMART
low complexity region	150	165	N/A	INTRINSIC
low complexity region	462	474	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,289,326 (GRCm39)	E344G	probably damaging	Het
Actrt2	T	C	4: 154,751,255 (GRCm39)	T294A	probably benign	Het
Afg1l	C	A	10: 42,330,506 (GRCm39)	E54*	probably null	Het
Ahi1	T	C	10: 20,847,933 (GRCm39)	I447T	probably damaging	Het
Akap6	T	C	12: 53,187,212 (GRCm39)	I1542T	probably benign	Het
Apc	C	T	18: 34,448,863 (GRCm39)	Q1886*	probably null	Het
Bcas3	A	G	11: 85,386,671 (GRCm39)	T148A	probably damaging	Het
Bud13	A	G	9: 46,194,350 (GRCm39)	T8A	probably benign	Het
Casr	A	T	16: 36,330,072 (GRCm39)	Y421N	probably damaging	Het
Ccdc121rt2	A	G	5: 112,597,600 (GRCm39)	Y49C	probably benign	Het
Clasp2	T	C	9: 113,697,794 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,619,082 (GRCm39)	T686A	probably benign	Het
Cntln	T	A	4: 84,968,026 (GRCm39)	H748Q	probably benign	Het
Dmtf1	A	T	5: 9,170,056 (GRCm39)	D683E	possibly damaging	Het
Dnmt3l	A	G	10: 77,899,152 (GRCm39)	K117R	probably damaging	Het
Eif2a	T	C	3: 58,456,024 (GRCm39)	M341T	possibly damaging	Het
Epg5	T	A	18: 78,056,047 (GRCm39)	Y1740*	probably null	Het
Fam149b	C	T	14: 20,413,369 (GRCm39)	T157I	possibly damaging	Het
Fam89b	A	G	19: 5,778,899 (GRCm39)		probably null	Het
Fbxo3	T	A	2: 103,878,296 (GRCm39)	N232K	probably benign	Het
Gnl3	A	C	14: 30,739,359 (GRCm39)	H16Q	probably damaging	Het
Gpld1	T	G	13: 25,166,757 (GRCm39)	V669G	probably damaging	Het
Grik3	A	G	4: 125,579,783 (GRCm39)		probably benign	Het
Gzmg	A	C	14: 56,394,729 (GRCm39)	Y180D	probably benign	Het
H2-M9	A	T	17: 36,951,633 (GRCm39)	Y281N	probably damaging	Het
Katnip	T	A	7: 125,442,001 (GRCm39)	S637T	probably benign	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Mrs2	T	A	13: 25,188,940 (GRCm39)	I125F	probably damaging	Het
Nfam1	T	A	15: 82,907,152 (GRCm39)	N15I	probably benign	Het
Nol8	T	A	13: 49,808,721 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,899,348 (GRCm39)	V6483A	possibly damaging	Het
Or2a56	A	T	6: 42,932,917 (GRCm39)	I162F	probably benign	Het
Osbpl3	A	G	6: 50,323,306 (GRCm39)		probably null	Het
Plaat3	G	A	19: 7,552,357 (GRCm39)	W24*	probably null	Het
Ppfibp2	A	T	7: 107,337,836 (GRCm39)	Q652H	probably damaging	Het
Rbm47	A	G	5: 66,183,772 (GRCm39)	V277A	probably damaging	Het
Robo3	G	A	9: 37,333,497 (GRCm39)	A716V	probably benign	Het
Scart1	G	T	7: 139,808,572 (GRCm39)	A828S	probably benign	Het
Semp2l1	A	T	1: 32,584,785 (GRCm39)	L375*	probably null	Het
Slc29a4	A	G	5: 142,703,407 (GRCm39)	E227G	probably damaging	Het
Slf1	T	C	13: 77,199,413 (GRCm39)	D656G	possibly damaging	Het
Sox1	A	G	8: 12,446,692 (GRCm39)	H111R	possibly damaging	Het
Spmip9	A	G	6: 70,890,679 (GRCm39)		probably benign	Het
Svep1	G	A	4: 58,070,236 (GRCm39)	Q2517*	probably null	Het
Syndig1	G	T	2: 149,741,707 (GRCm39)	V98L	probably benign	Het
Synpo2	T	C	3: 122,911,183 (GRCm39)	E154G	probably benign	Het
Tkt	G	A	14: 30,292,992 (GRCm39)	G490S	possibly damaging	Het
Tmem200a	T	C	10: 25,869,328 (GRCm39)	N314D	probably benign	Het
Tnfaip8l1	A	T	17: 56,479,009 (GRCm39)	T100S	probably damaging	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Trim12c	C	T	7: 103,997,473 (GRCm39)	A28T	probably benign	Het
Trpc7	C	A	13: 56,931,564 (GRCm39)	V595L	possibly damaging	Het
Ttc39c	A	G	18: 12,869,800 (GRCm39)	R575G	probably null	Het
Ttn	T	G	2: 76,681,919 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,553,609 (GRCm39)	V31003M	probably damaging	Het
Ugt2b37	A	T	5: 87,398,423 (GRCm39)		probably benign	Het
Uqcrb	A	T	13: 67,050,874 (GRCm39)		probably benign	Het
Usp33	T	A	3: 152,076,024 (GRCm39)	W415R	probably benign	Het
Vmn2r110	A	T	17: 20,816,399 (GRCm39)	D41E	probably damaging	Het
Vmn2r98	A	T	17: 19,286,113 (GRCm39)	I204F	probably damaging	Het

Other mutations in Ankrd34c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:Ankrd34c	APN	9	89,611,079 (GRCm39)	missense	probably benign	0.15
IGL01630:Ankrd34c	APN	9	89,611,879 (GRCm39)	missense	probably damaging	0.99
IGL01683:Ankrd34c	APN	9	89,611,850 (GRCm39)	missense	probably benign	0.09
IGL01886:Ankrd34c	APN	9	89,612,318 (GRCm39)	missense	possibly damaging	0.71
IGL02679:Ankrd34c	APN	9	89,612,132 (GRCm39)	missense	probably damaging	1.00
IGL03000:Ankrd34c	APN	9	89,611,239 (GRCm39)	missense	probably benign	0.00
IGL03008:Ankrd34c	APN	9	89,612,337 (GRCm39)	start codon destroyed	probably null	0.05
R0024:Ankrd34c	UTSW	9	89,611,580 (GRCm39)	missense	possibly damaging	0.93
R0107:Ankrd34c	UTSW	9	89,611,537 (GRCm39)	missense	probably benign
R1602:Ankrd34c	UTSW	9	89,611,058 (GRCm39)	missense	possibly damaging	0.66
R1879:Ankrd34c	UTSW	9	89,612,126 (GRCm39)	missense	probably damaging	1.00
R4114:Ankrd34c	UTSW	9	89,611,927 (GRCm39)	missense	probably damaging	1.00
R4115:Ankrd34c	UTSW	9	89,611,927 (GRCm39)	missense	probably damaging	1.00
R4116:Ankrd34c	UTSW	9	89,611,927 (GRCm39)	missense	probably damaging	1.00
R4291:Ankrd34c	UTSW	9	89,611,817 (GRCm39)	nonsense	probably null
R5012:Ankrd34c	UTSW	9	89,611,709 (GRCm39)	missense	probably benign	0.00
R5020:Ankrd34c	UTSW	9	89,611,759 (GRCm39)	missense	probably benign	0.16
R5747:Ankrd34c	UTSW	9	89,611,814 (GRCm39)	missense	possibly damaging	0.60
R6766:Ankrd34c	UTSW	9	89,611,381 (GRCm39)	missense	probably benign
R7011:Ankrd34c	UTSW	9	89,611,001 (GRCm39)	nonsense	probably null
R7614:Ankrd34c	UTSW	9	89,610,914 (GRCm39)	missense	probably damaging	0.96
R7651:Ankrd34c	UTSW	9	89,611,463 (GRCm39)	missense	possibly damaging	0.84
R8006:Ankrd34c	UTSW	9	89,611,889 (GRCm39)	missense	probably damaging	1.00
R8082:Ankrd34c	UTSW	9	89,610,768 (GRCm39)	missense	probably damaging	1.00
R8337:Ankrd34c	UTSW	9	89,611,951 (GRCm39)	missense	probably damaging	0.98
R8891:Ankrd34c	UTSW	9	89,612,143 (GRCm39)	missense	probably damaging	1.00
R9245:Ankrd34c	UTSW	9	89,610,940 (GRCm39)	missense	probably damaging	0.97
R9361:Ankrd34c	UTSW	9	89,612,183 (GRCm39)	missense	probably damaging	0.98
R9392:Ankrd34c	UTSW	9	89,611,787 (GRCm39)	missense	possibly damaging	0.82
X0022:Ankrd34c	UTSW	9	89,611,879 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16