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

2600016B03Rik, Rbm13

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL02071

Quality Score

Status

Chromosome

Chromosomal Location

31159463-31168764 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31160529 bp (GRCm38)

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: 8,582,812	R92C	probably damaging	Het
Adam29	C	A	8: 55,871,554	V622L	possibly damaging	Het
Bzw2	T	C	12: 36,107,503	H321R	probably benign	Het
C2cd2	C	T	16: 97,870,232	R489Q	probably damaging	Het
Ccdc129	C	A	6: 55,967,725	S477*	probably null	Het
Cdh23	G	A	10: 60,523,560	T253I	possibly damaging	Het
Col4a3	T	G	1: 82,660,887		probably null	Het
D630039A03Rik	T	C	4: 57,910,309	T168A	possibly damaging	Het
Dnajc19	A	G	3: 34,078,765	L97P	possibly damaging	Het
Dpep2	A	T	8: 105,985,144	H550Q	probably benign	Het
Dvl2	C	A	11: 70,004,800		probably null	Het
Fam234b	A	G	6: 135,227,151		probably null	Het
Fxyd5	A	G	7: 31,040,188	V32A	possibly damaging	Het
Med10	T	C	13: 69,815,628	V116A	probably benign	Het
Mycbp2	G	A	14: 103,154,907	R50*	probably null	Het
Nckap5	G	A	1: 125,981,568	P272L	probably damaging	Het
Nf1	T	A	11: 79,444,121	V933E	possibly damaging	Het
Nrxn2	T	A	19: 6,481,753	V749E	probably damaging	Het
Olfr1042	C	A	2: 86,159,875	R165L	probably benign	Het
Olfr78	A	C	7: 102,742,148	V285G	probably damaging	Het
Osbpl9	T	C	4: 109,071,979	Y417C	probably damaging	Het
Otop1	G	A	5: 38,287,983	A162T	probably damaging	Het
Patl1	C	A	19: 11,939,690	P634T	probably damaging	Het
Ppl	A	T	16: 5,113,072	S28T	probably benign	Het
Prkar2b	C	T	12: 31,963,017	G367R	probably damaging	Het
Rbl2	G	A	8: 91,102,198	V576I	probably damaging	Het
Rgl3	C	T	9: 21,988,263	A53T	probably benign	Het
Rp1	T	A	1: 4,345,310	I1860F	possibly damaging	Het
Sbno2	A	T	10: 80,060,641	D877E	probably damaging	Het
Sectm1b	C	T	11: 121,055,935	V45I	probably damaging	Het
Sfmbt2	G	A	2: 10,577,952	V741I	probably benign	Het
Sugt1	T	A	14: 79,610,283	L191*	probably null	Het
Tcf21	A	T	10: 22,817,810	V156E	possibly damaging	Het
Tep1	T	A	14: 50,834,049	R2046S	possibly damaging	Het
Tmem181a	T	C	17: 6,297,256	F241S	probably damaging	Het
Traf6	G	A	2: 101,696,793	C296Y	probably benign	Het
Trim40	A	G	17: 36,889,178	S3P	probably benign	Het
Ttll2	A	T	17: 7,351,731	Y266N	probably damaging	Het
Vps54	A	G	11: 21,275,071	N177S	probably null	Het

Other mutations in Mak16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Mak16	APN	8	31166750	missense	probably benign
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

2014-05-07