Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02071:Mak16'

185831

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mak16

Ensembl Gene

ENSMUSG00000031578

Gene Name

MAK16 homolog

Synonyms

Rbm13, 2600016B03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL02071

Quality Score

Status

Chromosome

Chromosomal Location

31649496-31658752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31650557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 251 (S251T)

Ref Sequence

ENSEMBL: ENSMUSP00000033983 (fasta)

Gene Model

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

AlphaFold

Q8BGS0

Predicted Effect

probably benign
Transcript: ENSMUST00000033983
AA Change: S251T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
AA Change: S251T

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,400,676 (GRCm39)	R92C	probably damaging	Het
Adam29	C	A	8: 56,324,589 (GRCm39)	V622L	possibly damaging	Het
Bzw2	T	C	12: 36,157,502 (GRCm39)	H321R	probably benign	Het
C2cd2	C	T	16: 97,671,432 (GRCm39)	R489Q	probably damaging	Het
Cdh23	G	A	10: 60,359,339 (GRCm39)	T253I	possibly damaging	Het
Col4a3	T	G	1: 82,638,608 (GRCm39)		probably null	Het
D630039A03Rik	T	C	4: 57,910,309 (GRCm39)	T168A	possibly damaging	Het
Dnajc19	A	G	3: 34,132,914 (GRCm39)	L97P	possibly damaging	Het
Dpep2	A	T	8: 106,711,776 (GRCm39)	H550Q	probably benign	Het
Dvl2	C	A	11: 69,895,626 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,204,149 (GRCm39)		probably null	Het
Fxyd5	A	G	7: 30,739,613 (GRCm39)	V32A	possibly damaging	Het
Itprid1	C	A	6: 55,944,710 (GRCm39)	S477*	probably null	Het
Med10	T	C	13: 69,963,747 (GRCm39)	V116A	probably benign	Het
Mycbp2	G	A	14: 103,392,343 (GRCm39)	R50*	probably null	Het
Nckap5	G	A	1: 125,909,305 (GRCm39)	P272L	probably damaging	Het
Nf1	T	A	11: 79,334,947 (GRCm39)	V933E	possibly damaging	Het
Nrxn2	T	A	19: 6,531,783 (GRCm39)	V749E	probably damaging	Het
Or51e2	A	C	7: 102,391,355 (GRCm39)	V285G	probably damaging	Het
Or5al1	C	A	2: 85,990,219 (GRCm39)	R165L	probably benign	Het
Osbpl9	T	C	4: 108,929,176 (GRCm39)	Y417C	probably damaging	Het
Otop1	G	A	5: 38,445,327 (GRCm39)	A162T	probably damaging	Het
Patl1	C	A	19: 11,917,054 (GRCm39)	P634T	probably damaging	Het
Ppl	A	T	16: 4,930,936 (GRCm39)	S28T	probably benign	Het
Prkar2b	C	T	12: 32,013,016 (GRCm39)	G367R	probably damaging	Het
Rbl2	G	A	8: 91,828,826 (GRCm39)	V576I	probably damaging	Het
Rgl3	C	T	9: 21,899,559 (GRCm39)	A53T	probably benign	Het
Rp1	T	A	1: 4,415,533 (GRCm39)	I1860F	possibly damaging	Het
Sbno2	A	T	10: 79,896,475 (GRCm39)	D877E	probably damaging	Het
Sectm1b	C	T	11: 120,946,761 (GRCm39)	V45I	probably damaging	Het
Sfmbt2	G	A	2: 10,582,763 (GRCm39)	V741I	probably benign	Het
Sugt1	T	A	14: 79,847,723 (GRCm39)	L191*	probably null	Het
Tcf21	A	T	10: 22,693,709 (GRCm39)	V156E	possibly damaging	Het
Tep1	T	A	14: 51,071,506 (GRCm39)	R2046S	possibly damaging	Het
Tmem181a	T	C	17: 6,347,531 (GRCm39)	F241S	probably damaging	Het
Traf6	G	A	2: 101,527,138 (GRCm39)	C296Y	probably benign	Het
Trim40	A	G	17: 37,200,070 (GRCm39)	S3P	probably benign	Het
Ttll2	A	T	17: 7,619,130 (GRCm39)	Y266N	probably damaging	Het
Vps54	A	G	11: 21,225,071 (GRCm39)	N177S	probably null	Het

Other mutations in Mak16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Mak16	APN	8	31,656,778 (GRCm39)	missense	probably benign
IGL02457:Mak16	APN	8	31,654,753 (GRCm39)	missense	possibly damaging	0.83
IGL02486:Mak16	APN	8	31,650,614 (GRCm39)	intron	probably benign
FR4342:Mak16	UTSW	8	31,651,777 (GRCm39)	missense	probably benign	0.00
R4527:Mak16	UTSW	8	31,656,205 (GRCm39)	nonsense	probably null
R4807:Mak16	UTSW	8	31,656,161 (GRCm39)	missense	probably benign	0.25
R7178:Mak16	UTSW	8	31,656,602 (GRCm39)	missense	probably benign	0.06
R7315:Mak16	UTSW	8	31,654,766 (GRCm39)	nonsense	probably null
R7366:Mak16	UTSW	8	31,656,127 (GRCm39)	missense	possibly damaging	0.88
R8311:Mak16	UTSW	8	31,658,697 (GRCm39)	missense	probably damaging	1.00
R9387:Mak16	UTSW	8	31,650,794 (GRCm39)	missense	probably damaging	1.00
R9690:Mak16	UTSW	8	31,650,798 (GRCm39)	missense	probably damaging	1.00
Z1088:Mak16	UTSW	8	31,656,123 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07