Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01024:Ankrd49'

53787

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd49

Ensembl Gene

ENSMUSG00000031931

Gene Name

ankyrin repeat domain 49

Synonyms

Gbif

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

IGL01024

Quality Score

Status

Chromosome

Chromosomal Location

14690916-14695869 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14694099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 23 (F23L)

Ref Sequence

ENSEMBL: ENSMUSP00000152731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034405] [ENSMUST00000034406] [ENSMUST00000115632] [ENSMUST00000147305] [ENSMUST00000214456] [ENSMUST00000214979] [ENSMUST00000216372] [ENSMUST00000216037] [ENSMUST00000215820]

AlphaFold

Q8VE42

Predicted Effect

probably benign
Transcript: ENSMUST00000034405

SMART Domains

Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928

Domain	Start	End	E-Value	Type
Pfam:Metallophos	13	249	6.3e-15	PFAM
Mre11_DNA_bind	294	462	1.72e-70	SMART
coiled coil region	487	519	N/A	INTRINSIC
low complexity region	566	594	N/A	INTRINSIC
low complexity region	683	699	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034406
AA Change: F23L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034406
Gene: ENSMUSG00000031931
AA Change: F23L

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	50	60	N/A	INTRINSIC
ANK	72	102	1.02e3	SMART
ANK	106	135	7.24e-7	SMART
ANK	139	168	1.94e-7	SMART
ANK	172	203	1.37e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115632

SMART Domains

Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928

Domain	Start	End	E-Value	Type
Pfam:Metallophos	13	249	1.1e-31	PFAM
Mre11_DNA_bind	294	435	7.6e-49	SMART
coiled coil region	460	492	N/A	INTRINSIC
low complexity region	539	567	N/A	INTRINSIC
low complexity region	656	672	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147305

SMART Domains

Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928

Domain	Start	End	E-Value	Type
Pfam:Metallophos	13	199	1.2e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214456
AA Change: F23L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214882

Predicted Effect

probably benign
Transcript: ENSMUST00000214979

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216372
AA Change: F23L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216037
AA Change: F23L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000215820

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
1810055G02Rik	T	C	19: 3,767,040 (GRCm39)	V209A	probably benign	Het
Abca6	T	A	11: 110,087,968 (GRCm39)	Y1053F	probably benign	Het
Acot12	C	T	13: 91,929,330 (GRCm39)	Q386*	probably null	Het
Adamts16	A	G	13: 70,943,603 (GRCm39)	V336A	probably benign	Het
Aspm	A	T	1: 139,405,862 (GRCm39)	H1583L	possibly damaging	Het
Atp6v0a1	A	G	11: 100,939,265 (GRCm39)	I677V	probably benign	Het
Brinp1	A	T	4: 68,680,731 (GRCm39)	W600R	probably damaging	Het
Ccdc185	T	C	1: 182,574,988 (GRCm39)	E567G	possibly damaging	Het
Clip2	T	C	5: 134,539,066 (GRCm39)	D445G	probably damaging	Het
Elp5	T	C	11: 69,859,248 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,570 (GRCm39)	M1V	probably null	Het
Gtf2a1l	A	G	17: 88,978,719 (GRCm39)	K40R	probably damaging	Het
Hdc	A	G	2: 126,445,766 (GRCm39)	V246A	probably benign	Het
Hectd2	T	A	19: 36,583,793 (GRCm39)	F479L	probably damaging	Het
Hipk1	G	T	3: 103,667,952 (GRCm39)	N538K	probably benign	Het
Kif27	T	A	13: 58,436,015 (GRCm39)	E1259D	possibly damaging	Het
Klhdc2	T	A	12: 69,352,610 (GRCm39)	N256K	probably benign	Het
Krt71	C	T	15: 101,645,109 (GRCm39)	A401T	probably damaging	Het
Mapk3	A	T	7: 126,363,946 (GRCm39)	K312*	probably null	Het
Med12l	G	T	3: 58,980,762 (GRCm39)	S365I	probably damaging	Het
Mgam	A	G	6: 40,619,944 (GRCm39)	K11R	probably benign	Het
Nox3	A	T	17: 3,733,290 (GRCm39)	I187N	probably damaging	Het
Nudcd1	T	A	15: 44,284,222 (GRCm39)	M55L	probably benign	Het
Or1a1b	A	T	11: 74,097,481 (GRCm39)	L187Q	probably damaging	Het
Or4f59	A	T	2: 111,872,716 (GRCm39)	F220L	probably benign	Het
Or8b57	A	G	9: 40,004,029 (GRCm39)	S78P	probably damaging	Het
Pard6g	T	C	18: 80,123,037 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,774,217 (GRCm39)	R461H	probably damaging	Het
Ppm1f	C	A	16: 16,741,633 (GRCm39)	T369K	probably benign	Het
Ppp1r16b	C	T	2: 158,582,736 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,935,045 (GRCm39)	I232K	possibly damaging	Het
Prom2	T	C	2: 127,383,059 (GRCm39)	N61S	probably benign	Het
Psmc2	T	C	5: 22,006,196 (GRCm39)		probably benign	Het
Psme2	A	G	14: 55,825,893 (GRCm39)		probably benign	Het
Ptprc	T	C	1: 138,008,650 (GRCm39)	H655R	probably damaging	Het
Pxdn	A	C	12: 30,037,098 (GRCm39)	N292T	probably damaging	Het
Rapgef2	T	C	3: 78,977,445 (GRCm39)	I1301V	probably benign	Het
Rnase11	T	C	14: 51,287,321 (GRCm39)	I78V	probably benign	Het
Rpl41	A	G	10: 128,384,246 (GRCm39)		probably benign	Het
Sgf29	G	A	7: 126,264,103 (GRCm39)	R56Q	possibly damaging	Het
Sis	A	G	3: 72,819,209 (GRCm39)	L1449S	probably damaging	Het
Slc34a2	T	A	5: 53,224,972 (GRCm39)	V371D	possibly damaging	Het
Son	C	A	16: 91,452,798 (GRCm39)	T515K	probably damaging	Het
Tbx15	A	T	3: 99,223,562 (GRCm39)	D250V	probably damaging	Het
Thoc2l	T	G	5: 104,669,612 (GRCm39)	V1378G	probably benign	Het
Tmem171	T	A	13: 98,823,026 (GRCm39)		probably null	Het
Ugt2b36	C	T	5: 87,228,728 (GRCm39)		probably null	Het
Vill	G	A	9: 118,899,418 (GRCm39)		probably null	Het
Vmn2r22	A	G	6: 123,615,012 (GRCm39)	F193L	probably damaging	Het
Vmn2r95	C	T	17: 18,672,590 (GRCm39)		probably benign	Het
Vstm2a	T	A	11: 16,231,874 (GRCm39)	V223D	possibly damaging	Het

Other mutations in Ankrd49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01466:Ankrd49	APN	9	14,692,645 (GRCm39)	missense	probably damaging	0.99
R1677:Ankrd49	UTSW	9	14,692,674 (GRCm39)	missense	probably benign	0.00
R4626:Ankrd49	UTSW	9	14,693,936 (GRCm39)	missense	probably damaging	1.00
R4809:Ankrd49	UTSW	9	14,692,510 (GRCm39)	missense	possibly damaging	0.68
R6580:Ankrd49	UTSW	9	14,692,694 (GRCm39)	missense	probably damaging	0.96
R6931:Ankrd49	UTSW	9	14,694,122 (GRCm39)	missense	probably benign	0.12
R7125:Ankrd49	UTSW	9	14,693,836 (GRCm39)	frame shift	probably null
R7485:Ankrd49	UTSW	9	14,693,837 (GRCm39)	nonsense	probably null
R8342:Ankrd49	UTSW	9	14,692,823 (GRCm39)	missense	probably damaging	1.00
R9397:Ankrd49	UTSW	9	14,692,711 (GRCm39)	missense	probably benign	0.07
Z1176:Ankrd49	UTSW	9	14,692,724 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28