Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02486:Mak16'

295450

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mak16

Ensembl Gene

ENSMUSG00000031578

Gene Name

MAK16 homolog

Synonyms

2600016B03Rik, Rbm13

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL02486

Quality Score

Status

Chromosome

Chromosomal Location

31159463-31168764 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 31160586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033983] [ENSMUST00000098842] [ENSMUST00000209851] [ENSMUST00000209986] [ENSMUST00000210129]

AlphaFold

Q8BGS0

Predicted Effect

probably benign
Transcript: ENSMUST00000033983

SMART Domains

Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L28e	6	119	5e-40	PFAM
Pfam:Mak16	138	235	4.7e-36	PFAM
low complexity region	242	256	N/A	INTRINSIC
low complexity region	258	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098842

SMART Domains

Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577

Domain	Start	End	E-Value	Type
Pfam:DUF2454	208	397	7.1e-17	PFAM
low complexity region	426	436	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209851

Predicted Effect

probably benign
Transcript: ENSMUST00000209986

Predicted Effect

probably benign
Transcript: ENSMUST00000210129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210278

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010106E10Rik	T	A	X: 112,515,258	N147K	probably benign	Het
9330182L06Rik	T	A	5: 9,422,323	V340E	probably benign	Het
BC052040	T	C	2: 115,777,006	V280A	possibly damaging	Het
Bcas1	T	C	2: 170,406,398	D201G	probably damaging	Het
Bmp1	T	A	14: 70,504,776	D333V	possibly damaging	Het
Btbd11	C	A	10: 85,640,555	P900H	probably damaging	Het
Capn6	T	C	X: 143,804,677	E535G	probably benign	Het
Chac2	T	C	11: 30,977,625	D86G	probably damaging	Het
Col14a1	T	A	15: 55,388,696		probably benign	Het
Daam1	T	C	12: 71,947,145		probably benign	Het
Eno4	A	G	19: 58,945,665		probably null	Het
Fat1	T	C	8: 45,025,072	V2385A	probably benign	Het
Ffar4	T	C	19: 38,113,760	I281T	possibly damaging	Het
Flcn	C	T	11: 59,801,043	W260*	probably null	Het
Fry	T	G	5: 150,491,177	S496A	probably damaging	Het
Gk	T	A	X: 85,715,668	I373F	possibly damaging	Het
Gpr108	T	C	17: 57,235,977	N528S	probably damaging	Het
Hey1	T	A	3: 8,666,519	R50W	probably damaging	Het
Hgf	A	G	5: 16,602,289	Y393C	probably damaging	Het
Hmcn2	A	T	2: 31,420,095	E3260D	probably damaging	Het
Ift172	A	G	5: 31,257,583	I1365T	probably damaging	Het
Letmd1	A	G	15: 100,475,111	R31G	probably damaging	Het
Mapkapk3	C	T	9: 107,289,268	G26D	probably damaging	Het
Mphosph8	T	C	14: 56,688,387	V603A	possibly damaging	Het
Myom1	G	T	17: 71,099,944		probably benign	Het
Neb	T	A	2: 52,282,603	N1564I	possibly damaging	Het
Nox1	C	T	X: 134,092,811	G433D	probably damaging	Het
Olfr133	T	A	17: 38,149,221	L211Q	probably damaging	Het
Olfr554	A	T	7: 102,640,420	H58L	probably damaging	Het
Olfr641	T	C	7: 104,040,410	S205P	probably damaging	Het
Olfr745	T	C	14: 50,642,632	F111S	probably damaging	Het
Rcc2	T	C	4: 140,710,362	W135R	probably damaging	Het
Rgl2	A	G	17: 33,935,980	I205V	probably damaging	Het
Robo4	G	A	9: 37,408,374	G640E	probably damaging	Het
Slc26a5	A	G	5: 21,846,325	F64L	probably damaging	Het
Slc27a2	A	G	2: 126,553,350	T66A	probably benign	Het
St18	T	C	1: 6,820,083	S580P	probably damaging	Het
Syt15	G	A	14: 34,222,976	R160K	probably damaging	Het
Tmem63b	A	G	17: 45,673,983	S200P	probably damaging	Het
Tnks	T	A	8: 34,851,198	N841I	probably damaging	Het
Tnr	G	A	1: 159,852,094		probably null	Het
Unc13d	A	G	11: 116,069,806		probably benign	Het
Usp4	T	C	9: 108,351,029	L74P	probably damaging	Het

Other mutations in Mak16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Mak16	APN	8	31166750	missense	probably benign
IGL02071:Mak16	APN	8	31160529	missense	probably benign	0.00
IGL02457:Mak16	APN	8	31164725	missense	possibly damaging	0.83
FR4342:Mak16	UTSW	8	31161749	missense	probably benign	0.00
R4527:Mak16	UTSW	8	31166177	nonsense	probably null
R4807:Mak16	UTSW	8	31166133	missense	probably benign	0.25
R7178:Mak16	UTSW	8	31166574	missense	probably benign	0.06
R7315:Mak16	UTSW	8	31164738	nonsense	probably null
R7366:Mak16	UTSW	8	31166099	missense	possibly damaging	0.88
R8311:Mak16	UTSW	8	31168669	missense	probably damaging	1.00
R9387:Mak16	UTSW	8	31160766	missense	probably damaging	1.00
R9690:Mak16	UTSW	8	31160770	missense	probably damaging	1.00
Z1088:Mak16	UTSW	8	31166095	missense	probably damaging	1.00

Posted On

2015-04-16