Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02398:Ankef1'

291778

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankef1

Ensembl Gene

ENSMUSG00000074771

Gene Name

ankyrin repeat and EF-hand domain containing 1

Synonyms

Ankrd5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

136374241-136397774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 136397702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 761 (N761T)

Ref Sequence

ENSEMBL: ENSMUSP00000135947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028726] [ENSMUST00000121717] [ENSMUST00000149712] [ENSMUST00000180246]

AlphaFold

Q9D2J7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028726
AA Change: N761T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028726
Gene: ENSMUSG00000074771
AA Change: N761T

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121717
AA Change: N761T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113881
Gene: ENSMUSG00000074771
AA Change: N761T

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138967

Predicted Effect

probably benign
Transcript: ENSMUST00000149712

SMART Domains

Protein: ENSMUSP00000114440
Gene: ENSMUSG00000074771

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000180246
AA Change: N761T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135947
Gene: ENSMUSG00000074771
AA Change: N761T

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

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
Ankrd7	A	G	6: 18,866,696 (GRCm39)	Y72C	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 Ankef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Ankef1	APN	2	136,394,451 (GRCm39)	missense	possibly damaging	0.87
IGL02194:Ankef1	APN	2	136,392,429 (GRCm39)	missense	probably benign	0.01
IGL02318:Ankef1	APN	2	136,386,695 (GRCm39)	missense	possibly damaging	0.48
IGL02930:Ankef1	APN	2	136,392,245 (GRCm39)	missense	possibly damaging	0.79
R1482:Ankef1	UTSW	2	136,392,078 (GRCm39)	missense	possibly damaging	0.74
R1692:Ankef1	UTSW	2	136,392,346 (GRCm39)	missense	probably benign
R2045:Ankef1	UTSW	2	136,396,658 (GRCm39)	missense	probably benign	0.00
R2074:Ankef1	UTSW	2	136,387,658 (GRCm39)	missense	possibly damaging	0.62
R4952:Ankef1	UTSW	2	136,392,449 (GRCm39)	missense	probably damaging	1.00
R5057:Ankef1	UTSW	2	136,392,280 (GRCm39)	splice site	probably null
R5113:Ankef1	UTSW	2	136,394,361 (GRCm39)	missense	probably benign	0.20
R5743:Ankef1	UTSW	2	136,391,629 (GRCm39)	splice site	probably null
R6120:Ankef1	UTSW	2	136,392,296 (GRCm39)	missense	probably benign	0.04
R6243:Ankef1	UTSW	2	136,379,077 (GRCm39)	missense	probably damaging	0.96
R7456:Ankef1	UTSW	2	136,387,734 (GRCm39)	missense	probably benign	0.01
R7898:Ankef1	UTSW	2	136,395,618 (GRCm39)	missense	probably benign	0.05
R8421:Ankef1	UTSW	2	136,379,085 (GRCm39)	missense	probably damaging	1.00
R9054:Ankef1	UTSW	2	136,395,594 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16