Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Mak16'

370759

Institutional Source

Beutler Lab

Gene Symbol

Mak16

Ensembl Gene

ENSMUSG00000031578

Gene Name

MAK16 homolog

Synonyms

2600016B03Rik, Rbm13

MMRRC Submission

042426-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31159463-31168764 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31166133 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 107 (H107Q)

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: H107Q

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
AA Change: H107Q

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

0.1932

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,540,609	A1499V	probably damaging	Het
Agap3	T	A	5: 24,477,116	D386E	probably damaging	Het
Ahdc1	C	A	4: 133,064,313	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,977,235	Y122H	probably benign	Het
Apc2	G	T	10: 80,314,362	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,646,637	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,628	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Aspm	T	A	1: 139,477,919	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,898,482	T1363A	probably benign	Het
Cacng3	C	T	7: 122,754,509	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505	C1193R	possibly damaging	Het
Ccr3	A	G	9: 124,029,297	Y223C	probably damaging	Het
Clcn3	C	A	8: 60,934,530	L201F	probably damaging	Het
Cltc	A	C	11: 86,701,076		probably benign	Het
Cyp19a1	G	T	9: 54,176,646	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,419,461	F248L	probably damaging	Het
Ddx60	G	A	8: 61,979,338	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422	I1404M	probably benign	Het
Emilin2	A	T	17: 71,273,448	V761E	probably damaging	Het
Endou	C	T	15: 97,731,232	C13Y	probably benign	Het
Ep400	C	A	5: 110,695,578		probably null	Het
Fbxo33	C	A	12: 59,219,212	D90Y	probably damaging	Het
Fryl	A	G	5: 73,041,362	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,598,245	I34V	probably benign	Het
Ghdc	T	C	11: 100,770,225	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446	M57L	probably benign	Het
Gprc5c	A	G	11: 114,864,498	S3G	probably damaging	Het
Grk4	A	T	5: 34,752,208	M539L	probably benign	Het
Gulo	C	T	14: 65,990,384	M366I	probably benign	Het
Heatr5a	T	C	12: 51,877,520	H1970R	probably damaging	Het
Hmbox1	T	C	14: 64,825,549		probably benign	Het
Ighg2b	T	C	12: 113,304,345		probably benign	Het
Il1b	A	T	2: 129,370,306	C9S	probably benign	Het
Itpkb	A	T	1: 180,334,875		probably benign	Het
Kcnn1	T	A	8: 70,848,178	H473L	probably damaging	Het
Kidins220	C	T	12: 25,057,285	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,247,921		probably benign	Het
Lyg2	A	T	1: 37,911,067	M60K	possibly damaging	Het
Mapkap1	G	A	2: 34,597,422		probably null	Het
Mastl	A	G	2: 23,132,843	S623P	probably benign	Het
Mccc1	T	C	3: 35,985,046	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651		probably null	Het
Med25	T	A	7: 44,884,619	T31S	probably benign	Het
Mprip	G	A	11: 59,758,020	G850D	probably benign	Het
Mrpl10	T	C	11: 97,041,623	I8T	probably benign	Het
Msr1	T	C	8: 39,642,627		probably benign	Het
Myo3b	T	A	2: 70,105,712	I99N	probably damaging	Het
Neurod6	A	T	6: 55,678,655	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,218,723	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542		probably null	Het
Ntn4	C	T	10: 93,644,500	R29C	probably damaging	Het
Olfr74	T	A	2: 87,973,751	I305L	probably benign	Het
Plppr2	A	G	9: 21,944,514	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,740,385		probably benign	Het
Pxk	G	A	14: 8,144,133	V294M	probably damaging	Het
Rars	A	G	11: 35,809,146	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,614,633	F60L	probably damaging	Het
Rbm47	C	T	5: 66,019,304	A490T	possibly damaging	Het
Sardh	T	C	2: 27,189,527	I918V	probably benign	Het
Sdhc	T	C	1: 171,136,057	Y80C	probably damaging	Het
Selp	T	A	1: 164,143,936	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,500,487	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,669,469	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,590,275		probably null	Het
Strip2	T	A	6: 29,925,093	Y143*	probably null	Het
Sycp2	T	C	2: 178,393,961		probably benign	Het
Tex30	C	A	1: 44,086,958	V204L	possibly damaging	Het
Tex45	A	G	8: 3,479,004	K193R	possibly damaging	Het
Tln2	G	T	9: 67,331,733	T1087K	probably benign	Het
Tmeff2	A	C	1: 50,979,387	N176T	probably benign	Het
Togaram2	C	G	17: 71,697,923	T324R	probably damaging	Het
Trpc3	C	T	3: 36,634,382	R836Q	probably benign	Het
Trpm7	A	C	2: 126,831,229	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,011,605	W119*	probably null	Het
Vps29	T	G	5: 122,362,888	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,463,749	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,628,022	Y844H	probably benign	Het
Zbp1	A	T	2: 173,212,206	M174K	probably damaging	Het
Zfp341	G	A	2: 154,645,866		probably benign	Het
Zfp638	G	A	6: 83,943,058	R546H	probably damaging	Het
Zfp820	A	T	17: 21,823,872	M1K	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGTTTGTGACATGGTCCAC -3'
(R):5'- TGCACTTGAAAGCCACCCTC -3'

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

Posted On

2016-02-04