Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00487:Mak16'

5048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mak16

Ensembl Gene

ENSMUSG00000031578

Gene Name

MAK16 homolog

Synonyms

2600016B03Rik, Rbm13

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL00487

Quality Score

Status

Chromosome

Chromosomal Location

31159463-31168764 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31166750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 9 (N9D)

Ref Sequence

ENSEMBL: ENSMUSP00000033983 (fasta)

Gene Model

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

AlphaFold

Q8BGS0

Predicted Effect

probably benign
Transcript: ENSMUST00000033983
AA Change: N9D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
AA Change: N9D

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: ENSMUST00000209986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209991

Predicted Effect

probably benign
Transcript: ENSMUST00000210129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210450

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,309,450		probably null	Het
Dusp23	T	C	1: 172,631,632		probably benign	Het
Invs	C	T	4: 48,407,689	Q555*	probably null	Het
Mrps7	T	C	11: 115,604,858	I74T	possibly damaging	Het
Nlrp4a	T	G	7: 26,449,985	V339G	possibly damaging	Het
Nucb1	A	G	7: 45,501,651	L102P	probably damaging	Het
Pdp2	T	C	8: 104,594,197	M226T	probably benign	Het
Pik3r2	T	C	8: 70,770,429	D449G	probably damaging	Het
Rnf157	G	A	11: 116,362,355	P76S	probably benign	Het
Senp6	C	A	9: 80,113,838	Q267K	probably damaging	Het
Slc9a2	A	G	1: 40,742,658	E349G	probably damaging	Het
Snx14	G	T	9: 88,402,190	S475Y	probably damaging	Het
Vmn1r180	A	T	7: 23,952,523	H37L	probably benign	Het
Wdr66	T	G	5: 123,274,177	I84S	probably damaging	Het
Xrn1	A	T	9: 96,038,949	H1371L	probably benign	Het

Other mutations in Mak16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02071:Mak16	APN	8	31160529	missense	probably benign	0.00
IGL02457:Mak16	APN	8	31164725	missense	possibly damaging	0.83
IGL02486:Mak16	APN	8	31160586	intron	probably benign
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

2012-04-20