Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Ankrd13c'

287911

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd13c

Ensembl Gene

ENSMUSG00000039988

Gene Name

ankyrin repeat domain 13c

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

157947239-158008034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 157947934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 136 (N136K)

Ref Sequence

ENSEMBL: ENSMUSP00000143432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040787] [ENSMUST00000164582] [ENSMUST00000199727]

AlphaFold

Q3UX43

Predicted Effect

probably benign
Transcript: ENSMUST00000040787
AA Change: N136K

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038662
Gene: ENSMUSG00000039988
AA Change: N136K

Domain	Start	End	E-Value	Type
low complexity region	27	52	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
Blast:ANK	108	139	8e-10	BLAST
ANK	143	172	2.66e-5	SMART
ANK	176	205	1.97e1	SMART
Pfam:GPCR_chapero_1	259	533	2.2e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164582
AA Change: N136K

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125831
Gene: ENSMUSG00000039988
AA Change: N136K

Domain	Start	End	E-Value	Type
low complexity region	27	52	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
Blast:ANK	108	139	8e-10	BLAST
ANK	143	172	2.66e-5	SMART
ANK	176	205	1.97e1	SMART
Pfam:GPCR_chapero_1	259	532	5.8e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197872

Predicted Effect

probably damaging
Transcript: ENSMUST00000199727
AA Change: N136K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143432
Gene: ENSMUSG00000039988
AA Change: N136K

Domain	Start	End	E-Value	Type
low complexity region	27	52	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
Blast:ANK	108	139	2e-9	BLAST
ANK	143	172	1.7e-7	SMART
ANK	176	205	1.3e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aph1b	A	T	9: 66,790,673		probably benign	Het
Atf7ip	A	G	6: 136,606,720	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,949,853	N400S	probably damaging	Het
Brca2	C	A	5: 150,538,661	S630Y	probably damaging	Het
Chd6	T	A	2: 160,965,675	E1873V	probably damaging	Het
Chrna10	T	C	7: 102,112,029		probably benign	Het
Col6a3	A	G	1: 90,811,606	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,810,705	N264S	probably damaging	Het
Dgkg	A	G	16: 22,570,230		probably benign	Het
Dpysl2	T	G	14: 66,824,390	M256L	probably benign	Het
Dsp	G	T	13: 38,196,523	E1816*	probably null	Het
Fam129c	A	G	8: 71,602,860	R305G	possibly damaging	Het
Fam13b	T	C	18: 34,454,656	K530E	probably damaging	Het
Fam49a	A	G	12: 12,364,751	T248A	possibly damaging	Het
Fastk	T	C	5: 24,443,092	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,337,352	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,778,892	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,453,605	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,508,389	T167A	probably benign	Het
Igsf10	A	G	3: 59,330,690	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,866		probably null	Het
Krt31	A	G	11: 100,048,396	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,516,088		probably benign	Het
Mfn2	T	A	4: 147,885,490	I375F	probably damaging	Het
Mfrp	A	T	9: 44,102,874	I180F	probably damaging	Het
Msh3	T	C	13: 92,349,312	E168G	possibly damaging	Het
Naa16	A	T	14: 79,384,668	V77D	probably damaging	Het
Nav2	T	C	7: 49,558,773	S1570P	probably damaging	Het
Numa1	C	T	7: 102,000,232	R1057*	probably null	Het
Nup210l	G	A	3: 90,122,792	A271T	probably damaging	Het
Ogdh	T	C	11: 6,355,400	V965A	probably damaging	Het
Olfr63	C	A	17: 33,269,665	Q314K	probably benign	Het
Olfr734	A	T	14: 50,320,016	V273E	probably damaging	Het
Olfr818	A	G	10: 129,945,903	L53P	probably damaging	Het
Olfr836	A	T	9: 19,121,375	N140I	probably damaging	Het
Olfr916	T	A	9: 38,658,066	I109F	probably damaging	Het
Pdp2	A	T	8: 104,594,899	Q460L	probably benign	Het
Pex5l	T	C	3: 32,992,992	T270A	probably benign	Het
Pkp4	C	T	2: 59,310,254	Q435*	probably null	Het
Prss32	G	A	17: 23,856,122	V149M	probably benign	Het
Riox2	C	A	16: 59,489,417	P378Q	probably benign	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,905,525	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,824,755	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,675,500	G54*	probably null	Het
Slc24a5	C	T	2: 125,085,647		probably benign	Het
Tex101	C	T	7: 24,668,325	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,681,593	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,650,468	E382G	probably damaging	Het
Uggt1	A	T	1: 36,184,484	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,565,168	I259V	probably damaging	Het
Xpo1	T	A	11: 23,277,065	N131K	probably damaging	Het
Zfp579	C	T	7: 4,994,433	V160M	probably benign	Het
Zfp697	A	G	3: 98,425,450	D64G	probably benign	Het
Zfp974	T	C	7: 27,912,253	T16A	possibly damaging	Het

Other mutations in Ankrd13c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02943:Ankrd13c	APN	3	157947927	missense	probably damaging	1.00
R0449:Ankrd13c	UTSW	3	157991714	missense	probably benign	0.26
R0588:Ankrd13c	UTSW	3	158005817	missense	probably damaging	1.00
R0787:Ankrd13c	UTSW	3	157994678	missense	probably null	0.98
R1459:Ankrd13c	UTSW	3	157972310	missense	probably damaging	1.00
R1530:Ankrd13c	UTSW	3	157991721	missense	probably damaging	1.00
R1534:Ankrd13c	UTSW	3	158001120	missense	probably benign	0.01
R4632:Ankrd13c	UTSW	3	157962302	missense	probably damaging	0.99
R4946:Ankrd13c	UTSW	3	158005773	missense	probably damaging	1.00
R5154:Ankrd13c	UTSW	3	157988660	missense	possibly damaging	0.51
R5672:Ankrd13c	UTSW	3	157961027	critical splice donor site	probably null
R5935:Ankrd13c	UTSW	3	157947583	synonymous	silent
R6562:Ankrd13c	UTSW	3	157999672	missense	probably damaging	1.00
R7358:Ankrd13c	UTSW	3	157991737	nonsense	probably null
R7768:Ankrd13c	UTSW	3	157988647	missense	probably benign	0.33
R8543:Ankrd13c	UTSW	3	158004075	splice site	probably null
R9166:Ankrd13c	UTSW	3	157999720	missense	probably benign	0.00
R9272:Ankrd13c	UTSW	3	157994721	missense	possibly damaging	0.90
R9476:Ankrd13c	UTSW	3	157991759	missense	probably benign	0.01
R9628:Ankrd13c	UTSW	3	157947676	missense	probably benign	0.00
R9629:Ankrd13c	UTSW	3	157947676	missense	probably benign	0.00

Posted On

2015-04-16