Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01522:Ankrd39'

89446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd39

Ensembl Gene

ENSMUSG00000079610

Gene Name

ankyrin repeat domain 39

Synonyms

9130416N05Rik, C030004B10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL01522

Quality Score

Status

Chromosome

Chromosomal Location

36577252-36586333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36581142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 69 (H69L)

Ref Sequence

ENSEMBL: ENSMUSP00000001172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001172] [ENSMUST00000191849] [ENSMUST00000194894] [ENSMUST00000207088] [ENSMUST00000207843]

AlphaFold

Q9D2X0

Predicted Effect

probably damaging
Transcript: ENSMUST00000001172
AA Change: H69L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001172
Gene: ENSMUSG00000079610
AA Change: H69L

Domain	Start	End	E-Value	Type
ANK	30	59	8.77e2	SMART
ANK	63	92	1.08e-5	SMART
ANK	96	127	1.27e-2	SMART
ANK	129	158	5.62e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191849

SMART Domains

Protein: ENSMUSP00000142202
Gene: ENSMUSG00000109510

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	9e-9	BLAST
ANK	30	59	1.12e-3	SMART
ANK	63	92	1.4e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194894
AA Change: H69L

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141712
Gene: ENSMUSG00000079610
AA Change: H69L

Domain	Start	End	E-Value	Type
ANK	30	59	5.6e0	SMART
ANK	63	92	7.1e-8	SMART
ANK	96	127	8.2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207088

Predicted Effect

probably benign
Transcript: ENSMUST00000207843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208690

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	C	15: 11,065,245 (GRCm39)		probably null	Het
Adamts3	T	C	5: 89,850,802 (GRCm39)	N579S	probably benign	Het
Akr1c19	A	G	13: 4,289,098 (GRCm39)		probably benign	Het
Apcdd1	T	A	18: 63,085,186 (GRCm39)	M461K	possibly damaging	Het
Bpifa3	G	A	2: 153,979,502 (GRCm39)	C209Y	probably damaging	Het
Cep131	T	C	11: 119,957,989 (GRCm39)	E779G	probably benign	Het
Cep85	T	C	4: 133,879,566 (GRCm39)	Q394R	probably damaging	Het
Cep85	G	T	4: 133,879,567 (GRCm39)	Q394K	probably damaging	Het
Clcn6	T	C	4: 148,101,992 (GRCm39)	Y364C	probably benign	Het
Fetub	G	A	16: 22,748,391 (GRCm39)	M1I	probably null	Het
Greb1	T	C	12: 16,751,202 (GRCm39)	I1003V	probably damaging	Het
Hsf3	A	G	X: 95,364,200 (GRCm39)		probably benign	Het
Jcad	A	G	18: 4,673,312 (GRCm39)	N358S	probably damaging	Het
Kndc1	T	C	7: 139,493,888 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,059,769 (GRCm39)		probably benign	Het
Mark2	A	G	19: 7,258,603 (GRCm39)	V50A	probably benign	Het
Mmp7	T	C	9: 7,692,229 (GRCm39)	W35R	probably damaging	Het
Ndc80	A	G	17: 71,806,320 (GRCm39)	V578A	probably benign	Het
Nfyc	T	C	4: 120,638,721 (GRCm39)	E42G	probably damaging	Het
Or1j15	A	G	2: 36,459,233 (GRCm39)	T208A	probably benign	Het
Or52b4	A	T	7: 102,184,391 (GRCm39)	I146F	probably damaging	Het
Or5d37	T	C	2: 87,923,360 (GRCm39)	K307E	possibly damaging	Het
Or8g21	A	T	9: 38,906,396 (GRCm39)	C112S	probably benign	Het
Or9i16	A	T	19: 13,864,722 (GRCm39)	L284*	probably null	Het
Pcdha11	T	C	18: 37,318,061 (GRCm39)	F925L	probably damaging	Het
Pdcd1	T	G	1: 93,968,571 (GRCm39)	R154S	probably benign	Het
Pepd	T	A	7: 34,623,865 (GRCm39)	D87E	probably benign	Het
Pfn4	A	G	12: 4,820,240 (GRCm39)	T30A	probably benign	Het
Pgpep1l	A	G	7: 67,887,456 (GRCm39)	M48T	possibly damaging	Het
Pla2g15	A	G	8: 106,889,748 (GRCm39)	N340S	probably benign	Het
Plcb4	A	G	2: 135,844,547 (GRCm39)	D155G	probably damaging	Het
Plg	G	A	17: 12,622,956 (GRCm39)	G499S	probably damaging	Het
Plin3	C	T	17: 56,587,799 (GRCm39)	W305*	probably null	Het
Polq	C	A	16: 36,848,265 (GRCm39)	L291I	probably damaging	Het
Sanbr	A	G	11: 23,532,865 (GRCm39)		probably null	Het
Sdf2l1	T	A	16: 16,950,014 (GRCm39)	H54L	probably damaging	Het
Slc38a2	C	T	15: 96,590,936 (GRCm39)	D276N	possibly damaging	Het
Syk	A	G	13: 52,797,097 (GRCm39)	T576A	probably benign	Het
Tas2r119	G	A	15: 32,178,339 (GRCm39)	V302I	probably benign	Het
Uso1	T	C	5: 92,329,278 (GRCm39)	F389L	probably damaging	Het
Wwc2	T	A	8: 48,321,668 (GRCm39)	Y482F	unknown	Het

Other mutations in Ankrd39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1637:Ankrd39	UTSW	1	36,578,573 (GRCm39)	nonsense	probably null
R4249:Ankrd39	UTSW	1	36,586,236 (GRCm39)	missense	probably benign	0.00
R5548:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5551:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5552:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5553:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5554:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5591:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5594:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R7609:Ankrd39	UTSW	1	36,578,546 (GRCm39)	missense	probably damaging	1.00
R7974:Ankrd39	UTSW	1	36,585,999 (GRCm39)	unclassified	probably benign
R8973:Ankrd39	UTSW	1	36,578,439 (GRCm39)	utr 3 prime	probably benign
R9095:Ankrd39	UTSW	1	36,586,241 (GRCm39)	missense	probably benign	0.40
Z1176:Ankrd39	UTSW	1	36,581,086 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03