Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02731:Ankrd13b'

305443

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd13b

Ensembl Gene

ENSMUSG00000037907

Gene Name

ankyrin repeat domain 13b

Synonyms

B930093C12Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

IGL02731

Quality Score

Status

Chromosome

Chromosomal Location

77361311-77380504 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77367045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 9 (S9R)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037593] [ENSMUST00000092892] [ENSMUST00000145934]

AlphaFold

Q5F259

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037593
AA Change: S262R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907
AA Change: S262R

Domain	Start	End	E-Value	Type
ANK	13	43	3.16e2	SMART
ANK	47	76	2.85e-5	SMART
ANK	80	109	1.17e2	SMART
Pfam:GPCR_chapero_1	163	491	5.5e-111	PFAM
UIM	503	522	1.81e-1	SMART
low complexity region	552	580	N/A	INTRINSIC
UIM	585	604	3.15e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092892
AA Change: S262R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907
AA Change: S262R

Domain	Start	End	E-Value	Type
ANK	13	43	3.16e2	SMART
ANK	47	76	2.85e-5	SMART
ANK	80	109	1.17e2	SMART
Pfam:GPCR_chapero_1	163	490	3.2e-110	PFAM
UIM	503	522	1.81e-1	SMART
low complexity region	673	686	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000127291
AA Change: S9R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118247
Gene: ENSMUSG00000037907
AA Change: S9R

Domain	Start	End	E-Value	Type
Pfam:GPCR_chapero_1	1	120	9.7e-31	PFAM
low complexity region	121	133	N/A	INTRINSIC
low complexity region	184	200	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143872

Predicted Effect

probably damaging
Transcript: ENSMUST00000145934
AA Change: S47R

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

SMART Domains

Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907
AA Change: S47R

Domain	Start	End	E-Value	Type
Pfam:GPCR_chapero_1	2	276	9.7e-90	PFAM
UIM	288	307	1.81e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	A	T	11: 61,784,302 (GRCm39)	D515E	possibly damaging	Het
Ano9	G	A	7: 140,687,117 (GRCm39)	A374V	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep78	T	A	19: 15,933,670 (GRCm39)	H636L	probably benign	Het
Chd2	A	G	7: 73,143,204 (GRCm39)	V563A	probably damaging	Het
Cndp1	G	T	18: 84,650,083 (GRCm39)	D203E	probably damaging	Het
Col16a1	G	A	4: 129,947,323 (GRCm39)		probably benign	Het
Copa	T	C	1: 171,929,785 (GRCm39)	V284A	possibly damaging	Het
Dlec1	A	G	9: 118,976,188 (GRCm39)	T1656A	probably benign	Het
Dop1a	T	C	9: 86,369,434 (GRCm39)	I89T	probably damaging	Het
Eif2ak4	T	C	2: 118,219,295 (GRCm39)	S36P	probably benign	Het
Ep300	A	T	15: 81,532,615 (GRCm39)	I1618F	unknown	Het
Fan1	G	A	7: 64,022,741 (GRCm39)	L171F	possibly damaging	Het
Fancm	A	G	12: 65,135,079 (GRCm39)	T291A	probably benign	Het
Gm14325	T	C	2: 177,474,779 (GRCm39)	K101R	probably damaging	Het
Hmx3	A	T	7: 131,145,692 (GRCm39)		probably null	Het
Htt	G	T	5: 34,961,137 (GRCm39)	V255L	probably benign	Het
L3mbtl3	C	T	10: 26,220,074 (GRCm39)		probably null	Het
Lmbr1l	A	G	15: 98,815,777 (GRCm39)	L9P	probably damaging	Het
Lyzl6	A	T	11: 103,525,903 (GRCm39)	Y72*	probably null	Het
Mib1	A	G	18: 10,800,115 (GRCm39)	E818G	possibly damaging	Het
Neb	T	C	2: 52,050,715 (GRCm39)	T6405A	probably damaging	Het
Npas3	A	G	12: 54,114,578 (GRCm39)	D482G	probably benign	Het
Nuak2	C	A	1: 132,244,095 (GRCm39)	A43E	probably damaging	Het
Or10ag2	G	A	2: 87,249,051 (GRCm39)	V220I	probably benign	Het
Or4a70	T	C	2: 89,323,801 (GRCm39)	Y285C	probably damaging	Het
Or4f4b	A	T	2: 111,313,873 (GRCm39)	I33L	probably benign	Het
Or5an1	T	C	19: 12,261,206 (GRCm39)	S265P	probably damaging	Het
Pde11a	C	A	2: 75,821,583 (GRCm39)	A899S	probably benign	Het
Ppfibp2	A	T	7: 107,345,629 (GRCm39)	I884F	possibly damaging	Het
Pus7l	A	G	15: 94,421,345 (GRCm39)	V655A	probably benign	Het
Rad51ap2	A	G	12: 11,506,897 (GRCm39)	D273G	probably damaging	Het
Rc3h2	T	C	2: 37,272,823 (GRCm39)	D751G	probably benign	Het
Sdk1	C	T	5: 142,158,299 (GRCm39)	A1863V	probably damaging	Het
Spns3	T	C	11: 72,420,403 (GRCm39)	Y361C	probably damaging	Het
Srp72	T	A	5: 77,142,062 (GRCm39)	I372N	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tcf20	A	G	15: 82,737,438 (GRCm39)	S1338P	probably benign	Het
Tcte1	G	A	17: 45,850,812 (GRCm39)	V363I	probably benign	Het
Vmn1r42	T	C	6: 89,822,407 (GRCm39)	K54R	probably benign	Het
Vps13b	A	G	15: 35,917,274 (GRCm39)	N3706S	probably benign	Het
Vwde	T	C	6: 13,192,613 (GRCm39)	Y430C	probably damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het
Zfp959	G	A	17: 56,202,956 (GRCm39)		probably benign	Het

Other mutations in Ankrd13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Ankrd13b	APN	11	77,363,578 (GRCm39)	missense	probably damaging	1.00
IGL01396:Ankrd13b	APN	11	77,363,198 (GRCm39)	splice site	probably null
R0310:Ankrd13b	UTSW	11	77,363,571 (GRCm39)	missense	possibly damaging	0.71
R0496:Ankrd13b	UTSW	11	77,363,867 (GRCm39)	missense	probably damaging	1.00
R0511:Ankrd13b	UTSW	11	77,364,114 (GRCm39)	missense	possibly damaging	0.89
R0831:Ankrd13b	UTSW	11	77,363,585 (GRCm39)	missense	probably damaging	0.99
R1156:Ankrd13b	UTSW	11	77,363,687 (GRCm39)	missense	probably damaging	1.00
R1237:Ankrd13b	UTSW	11	77,365,400 (GRCm39)	missense	probably damaging	1.00
R2259:Ankrd13b	UTSW	11	77,367,168 (GRCm39)	missense	probably damaging	1.00
R3110:Ankrd13b	UTSW	11	77,368,331 (GRCm39)	missense	possibly damaging	0.67
R3112:Ankrd13b	UTSW	11	77,368,331 (GRCm39)	missense	possibly damaging	0.67
R4190:Ankrd13b	UTSW	11	77,367,201 (GRCm39)	missense	probably damaging	1.00
R4471:Ankrd13b	UTSW	11	77,367,040 (GRCm39)	missense	probably damaging	1.00
R4599:Ankrd13b	UTSW	11	77,362,494 (GRCm39)	missense	probably benign
R5253:Ankrd13b	UTSW	11	77,364,061 (GRCm39)	intron	probably benign
R5677:Ankrd13b	UTSW	11	77,368,370 (GRCm39)	missense	probably damaging	0.99
R7073:Ankrd13b	UTSW	11	77,363,335 (GRCm39)	missense	probably benign	0.39
R7388:Ankrd13b	UTSW	11	77,363,583 (GRCm39)	missense	probably benign	0.02
R7417:Ankrd13b	UTSW	11	77,367,020 (GRCm39)	missense	probably damaging	0.97
R7592:Ankrd13b	UTSW	11	77,367,327 (GRCm39)	missense	probably benign	0.45
R7596:Ankrd13b	UTSW	11	77,363,140 (GRCm39)	missense	probably benign	0.18
R7643:Ankrd13b	UTSW	11	77,363,911 (GRCm39)	missense	probably benign	0.01
R8434:Ankrd13b	UTSW	11	77,368,552 (GRCm39)	missense	probably benign	0.01
R8959:Ankrd13b	UTSW	11	77,367,452 (GRCm39)	missense	probably damaging	1.00
R9668:Ankrd13b	UTSW	11	77,368,594 (GRCm39)	missense	possibly damaging	0.79

Posted On

2015-04-16