Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02398:Ankrd7'

291780

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd7

Ensembl Gene

ENSMUSG00000029517

Gene Name

ankyrin repeat domain 7

Synonyms

4930532L20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

18866317-18879585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18866696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 72 (Y72C)

Ref Sequence

ENSEMBL: ENSMUSP00000111054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031489] [ENSMUST00000115396]

AlphaFold

Q9D504

Predicted Effect

probably damaging
Transcript: ENSMUST00000031489
AA Change: Y72C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031489
Gene: ENSMUSG00000029517
AA Change: Y72C

Domain	Start	End	E-Value	Type
low complexity region	46	55	N/A	INTRINSIC
ANK	80	109	1.06e-4	SMART
ANK	113	142	5.45e-2	SMART
ANK	146	175	6.92e-4	SMART
ANK	179	208	1.94e-7	SMART
ANK	212	241	1.99e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115396
AA Change: Y72C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111054
Gene: ENSMUSG00000029517
AA Change: Y72C

Domain	Start	End	E-Value	Type
low complexity region	46	55	N/A	INTRINSIC
ANK	80	109	1.06e-4	SMART
ANK	113	143	3.07e2	SMART
ANK	147	176	6.92e-4	SMART
ANK	180	209	1.94e-7	SMART
ANK	213	242	1.99e2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,709,824 (GRCm39)	C160*	probably null	Het
Alkbh8	C	T	9: 3,345,870 (GRCm39)	P197S	possibly damaging	Het
Ankef1	A	C	2: 136,397,702 (GRCm39)	N761T	probably damaging	Het
Cfap36	T	G	11: 29,172,833 (GRCm39)	M231L	probably benign	Het
Cog7	A	G	7: 121,563,432 (GRCm39)	C227R	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cspg4	A	T	9: 56,793,970 (GRCm39)	E568D	probably benign	Het
Cwc27	G	A	13: 104,940,762 (GRCm39)	T199I	possibly damaging	Het
Cyp26a1	A	G	19: 37,688,467 (GRCm39)	I330V	probably benign	Het
Dcaf7	T	C	11: 105,944,579 (GRCm39)	V254A	probably benign	Het
Dhrs7	G	A	12: 72,711,466 (GRCm39)	R24C	probably damaging	Het
Ehmt2	T	A	17: 35,127,455 (GRCm39)	C838S	probably damaging	Het
Fn1	A	T	1: 71,657,829 (GRCm39)		probably null	Het
Gjb3	T	A	4: 127,219,855 (GRCm39)	S226C	probably benign	Het
Gm14496	A	G	2: 181,637,963 (GRCm39)	I346V	probably benign	Het
Gm8050	T	C	14: 17,930,894 (GRCm39)	E172G	probably damaging	Het
Higd1a	G	A	9: 121,681,590 (GRCm39)	R22W	probably damaging	Het
Hmcn1	A	G	1: 150,678,648 (GRCm39)	L491S	possibly damaging	Het
Igsf9b	T	C	9: 27,244,426 (GRCm39)	S794P	possibly damaging	Het
Irgm2	A	T	11: 58,110,755 (GRCm39)	I161F	probably damaging	Het
Lrp8	G	T	4: 107,704,691 (GRCm39)	V304F	probably damaging	Het
Lrp8	C	A	4: 107,726,245 (GRCm39)	S850R	probably damaging	Het
Lrrc9	A	T	12: 72,513,677 (GRCm39)	M513L	probably benign	Het
Myo18b	A	T	5: 112,978,178 (GRCm39)	V1248E	possibly damaging	Het
Myo1b	A	T	1: 51,797,050 (GRCm39)	N945K	probably damaging	Het
Nipbl	A	G	15: 8,356,574 (GRCm39)	L1604P	probably damaging	Het
Oas1f	A	T	5: 120,989,568 (GRCm39)	Y169F	probably benign	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or2a56	A	T	6: 42,933,046 (GRCm39)	I205F	probably benign	Het
Or52r1c	G	A	7: 102,735,313 (GRCm39)	C191Y	probably damaging	Het
Or8k22	A	T	2: 86,162,868 (GRCm39)	Y277*	probably null	Het
Parp8	A	G	13: 117,047,399 (GRCm39)		probably null	Het
Pde4dip	T	C	3: 97,674,097 (GRCm39)	Y273C	probably benign	Het
Pgbd5	C	T	8: 125,111,257 (GRCm39)	A54T	probably damaging	Het
Pglyrp4	G	A	3: 90,646,424 (GRCm39)		probably benign	Het
Piezo1	A	T	8: 123,213,302 (GRCm39)	S1819R	probably benign	Het
Polr1a	T	C	6: 71,913,540 (GRCm39)		probably benign	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Prlhr	G	T	19: 60,455,753 (GRCm39)	A271E	probably damaging	Het
Rad23b	C	T	4: 55,350,360 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,905,114 (GRCm39)	S132R	probably damaging	Het
Ros1	T	A	10: 52,020,980 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,677,767 (GRCm39)	D1327G	probably benign	Het
Slit1	A	C	19: 41,590,676 (GRCm39)	V1332G	probably damaging	Het
Spin2h	A	G	X: 32,162,153 (GRCm39)	D224G	probably damaging	Het
Tmem178b	A	G	6: 40,184,461 (GRCm39)	M120V	probably damaging	Het
Trim25	T	C	11: 88,890,630 (GRCm39)	C106R	probably damaging	Het
Trim35	A	G	14: 66,546,697 (GRCm39)	Y488C	probably damaging	Het
Tsc2	A	T	17: 24,840,703 (GRCm39)	H326Q	probably damaging	Het
Yap1	A	T	9: 7,950,536 (GRCm39)	I315K	probably benign	Het
Zfp654	A	G	16: 64,606,381 (GRCm39)	V607A	probably benign	Het

Other mutations in Ankrd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Ankrd7	APN	6	18,879,345 (GRCm39)	missense	probably damaging	0.99
IGL01336:Ankrd7	APN	6	18,868,277 (GRCm39)	missense	probably benign	0.05
IGL01916:Ankrd7	APN	6	18,868,250 (GRCm39)	missense	possibly damaging	0.65
R0031:Ankrd7	UTSW	6	18,870,007 (GRCm39)	nonsense	probably null
R0157:Ankrd7	UTSW	6	18,866,539 (GRCm39)	missense	probably damaging	0.98
R0207:Ankrd7	UTSW	6	18,870,030 (GRCm39)	missense	probably benign	0.09
R2154:Ankrd7	UTSW	6	18,870,030 (GRCm39)	missense	probably benign	0.09
R4255:Ankrd7	UTSW	6	18,869,880 (GRCm39)	splice site	probably null
R4581:Ankrd7	UTSW	6	18,868,020 (GRCm39)	missense	probably damaging	0.99
R4582:Ankrd7	UTSW	6	18,868,020 (GRCm39)	missense	probably damaging	0.99
R4958:Ankrd7	UTSW	6	18,866,722 (GRCm39)	missense	probably benign	0.05
R5194:Ankrd7	UTSW	6	18,868,076 (GRCm39)	missense	possibly damaging	0.67
R6077:Ankrd7	UTSW	6	18,868,071 (GRCm39)	missense	probably benign	0.08
R6731:Ankrd7	UTSW	6	18,866,653 (GRCm39)	missense	probably damaging	1.00
R6898:Ankrd7	UTSW	6	18,868,100 (GRCm39)	splice site	probably null
R7170:Ankrd7	UTSW	6	18,868,389 (GRCm39)	nonsense	probably null
R7194:Ankrd7	UTSW	6	18,879,342 (GRCm39)	missense	probably benign	0.00
R7749:Ankrd7	UTSW	6	18,879,515 (GRCm39)	splice site	probably null
R8348:Ankrd7	UTSW	6	18,868,007 (GRCm39)	missense	probably damaging	0.96
R8383:Ankrd7	UTSW	6	18,868,410 (GRCm39)	missense	possibly damaging	0.86
R8448:Ankrd7	UTSW	6	18,868,007 (GRCm39)	missense	probably damaging	0.96
R8850:Ankrd7	UTSW	6	18,870,006 (GRCm39)	missense	probably damaging	1.00
R9530:Ankrd7	UTSW	6	18,868,258 (GRCm39)	missense	probably benign	0.00
R9751:Ankrd7	UTSW	6	18,868,024 (GRCm39)	missense	probably damaging	0.99
RF012:Ankrd7	UTSW	6	18,869,274 (GRCm39)	missense	possibly damaging	0.76
Z1177:Ankrd7	UTSW	6	18,866,563 (GRCm39)	missense	possibly damaging	0.73

Posted On

2015-04-16