Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02457:Mak16'

294426

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 #

IGL02457

Quality Score

Status

Chromosome

Chromosomal Location

31159463-31168764 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31164725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 147 (R147Q)

Ref Sequence

ENSEMBL: ENSMUSP00000033983 (fasta)

Gene Model

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

AlphaFold

Q8BGS0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033983
AA Change: R147Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
AA Change: R147Q

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,494,334	D343G	probably benign	Het
Acot10	T	C	15: 20,666,143	S171G	possibly damaging	Het
Actr3b	T	C	5: 25,849,162		probably null	Het
Adamts17	T	C	7: 67,027,814	M492T	probably damaging	Het
Akap4	A	C	X: 7,077,468	N670T	probably benign	Het
Atrip	A	G	9: 109,065,231	S55P	possibly damaging	Het
Bend3	A	T	10: 43,509,950	E113V	probably damaging	Het
Ccdc158	A	C	5: 92,650,048	I411S	probably damaging	Het
Cd163l1	G	A	7: 140,220,395	G30S	probably benign	Het
Cfap97	G	T	8: 46,170,278	C235F	possibly damaging	Het
Chil4	T	C	3: 106,214,399	N45D	probably benign	Het
D430041D05Rik	A	G	2: 104,249,345	V1131A	probably damaging	Het
Defb38	T	C	8: 19,026,536		probably benign	Het
Dnah10	T	A	5: 124,789,796	W2260R	probably damaging	Het
Ecsit	A	G	9: 22,078,204	S14P	probably damaging	Het
Eif3l	T	C	15: 79,078,096	F106L	probably benign	Het
Erich5	G	T	15: 34,470,853	G76V	probably damaging	Het
Evpl	A	G	11: 116,230,113	L432P	possibly damaging	Het
Fbxw10	T	C	11: 62,874,982	F698L	probably damaging	Het
Frem2	A	T	3: 53,521,049	S2866T	probably damaging	Het
Fuca1	G	A	4: 135,934,762	V334I	probably benign	Het
Hprt	T	A	X: 53,002,133	H60Q	probably benign	Het
Kirrel2	T	C	7: 30,452,740	N481S	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Lilr4b	T	A	10: 51,481,238	Y57N	probably benign	Het
Lix1l	A	G	3: 96,614,476	Y126C	probably damaging	Het
Lox	T	C	18: 52,521,316	D347G	probably damaging	Het
Ndst2	G	A	14: 20,729,554	A206V	possibly damaging	Het
Olfr356	A	T	2: 36,937,748	I210F	probably damaging	Het
Olfr450	T	A	6: 42,818,242	I257N	probably damaging	Het
Phldb1	T	C	9: 44,716,474	M225V	probably benign	Het
Pofut1	C	T	2: 153,248,596	Q137*	probably null	Het
Polr2a	T	C	11: 69,743,250		probably benign	Het
Prdm5	T	A	6: 65,881,116	L388Q	probably damaging	Het
Rad51c	A	G	11: 87,380,855	S344P	possibly damaging	Het
Sdk1	C	T	5: 141,953,016	P398L	probably damaging	Het
Sec63	G	A	10: 42,801,733		probably benign	Het
Sgo1	A	T	17: 53,676,961	L463Q	probably damaging	Het
Slc5a6	A	G	5: 31,040,658	L291P	probably damaging	Het
Smarcb1	T	C	10: 75,921,371	T9A	probably benign	Het
Sp3	A	G	2: 72,971,469	W67R	probably damaging	Het
Ssxb9	A	C	X: 21,174,995	S23A	probably benign	Het
Syne1	A	G	10: 5,342,167	L1367S	probably damaging	Het
Tbc1d23	T	A	16: 57,170,391	I690F	probably damaging	Het
Tdgf1	C	T	9: 110,942,623	C32Y	probably damaging	Het
Tmed5	A	T	5: 108,124,550	S227R	probably benign	Het
Tnrc6c	T	A	11: 117,722,977	S814T	probably benign	Het
Trbv2	C	T	6: 41,047,971	T107I	probably benign	Het
Trpm6	T	C	19: 18,825,791	V866A	probably damaging	Het
Trpm6	A	T	19: 18,827,398	K905*	probably null	Het
Ttn	A	G	2: 76,709,310	V34444A	probably benign	Het
Vmn1r86	C	T	7: 13,102,780	M56I	probably benign	Het
Vmn2r17	A	C	5: 109,453,146	D770A	probably damaging	Het
Wnk4	T	C	11: 101,269,563		probably benign	Het
Xaf1	T	C	11: 72,303,431	M46T	possibly 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
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

2015-04-16