Mutagenetix > Incidental Mutation

Incidental Mutation 'R4527:Mak16'

334486

Institutional Source

Beutler Lab

Gene Symbol

Mak16

Ensembl Gene

ENSMUSG00000031578

Gene Name

MAK16 homolog

Synonyms

Rbm13, 2600016B03Rik

MMRRC Submission

041768-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R4527 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31649496-31658752 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 31656205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 93 (Q93*)

Ref Sequence

ENSEMBL: ENSMUSP00000033983 (fasta)

Gene Model

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

AlphaFold

Q8BGS0

Predicted Effect

probably null
Transcript: ENSMUST00000033983
AA Change: Q93*

SMART Domains

Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
AA Change: Q93*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg2	A	G	5: 137,682,798 (GRCm39)	V15A	unknown	Het
Asb3	A	G	11: 31,008,933 (GRCm39)	D278G	probably benign	Het
Atrn	T	C	2: 130,815,424 (GRCm39)	I780T	probably benign	Het
Car2	C	T	3: 14,963,065 (GRCm39)	P200L	probably damaging	Het
Cars1	A	T	7: 143,118,786 (GRCm39)	M668K	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cer1	A	G	4: 82,802,906 (GRCm39)	F139L	possibly damaging	Het
Crhr2	T	A	6: 55,109,838 (GRCm39)		probably benign	Het
Dnah7c	G	A	1: 46,572,091 (GRCm39)	E855K	probably benign	Het
Espn	C	T	4: 152,220,106 (GRCm39)	R339Q	probably damaging	Het
Flt3	T	A	5: 147,293,163 (GRCm39)	E481V	probably benign	Het
Gorab	T	G	1: 163,224,705 (GRCm39)	K32T	possibly damaging	Het
Muc4	T	C	16: 32,576,217 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,083,249 (GRCm39)	I5409N	probably benign	Het
Olfm4	C	T	14: 80,258,664 (GRCm39)	S304F	probably benign	Het
Pask	A	G	1: 93,248,224 (GRCm39)	F1026L	probably benign	Het
Rab11a	A	G	9: 64,632,850 (GRCm39)	S19P	probably benign	Het
Rab11fip3	T	C	17: 26,255,631 (GRCm39)	D541G	probably damaging	Het
Rnf10	T	C	5: 115,398,210 (GRCm39)	S108G	probably damaging	Het
Rps4l-ps	C	T	7: 114,526,403 (GRCm39)		noncoding transcript	Het
Shank1	A	T	7: 44,004,014 (GRCm39)	H1902L	possibly damaging	Het
Slc8a3	T	C	12: 81,362,627 (GRCm39)	Y64C	probably damaging	Het
Sorbs3	A	C	14: 70,445,066 (GRCm39)	I4S	probably damaging	Het
St18	A	G	1: 6,925,647 (GRCm39)	N935S	probably damaging	Het
Taf4b	T	C	18: 14,954,499 (GRCm39)	V525A	probably damaging	Het
Timm10b	A	G	7: 105,332,013 (GRCm39)	N828S	probably benign	Het
Ttyh1	A	T	7: 4,122,763 (GRCm39)	D4V	probably damaging	Het
Usp34	T	A	11: 23,371,257 (GRCm39)	L53Q	possibly damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r70	A	T	7: 85,208,787 (GRCm39)	N563K	probably damaging	Het
Xrcc5	C	A	1: 72,351,659 (GRCm39)	N76K	probably damaging	Het
Zscan25	T	C	5: 145,220,268 (GRCm39)	V21A	probably damaging	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
IGL02071:Mak16	APN	8	31,650,557 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGTTTGTGACATGGTCCACAG -3'
(R):5'- AGTGACCATTGGGCAAAAGC -3'

Sequencing Primer
(F):5'- GATTTCTGAGTTCAAGGCCAGCC -3'
(R):5'- CCATTGGGCAAAAGCAAAATTG -3'

Posted On

2015-08-18