Mutagenetix > Incidental Mutation

Incidental Mutation 'R8311:Mak16'

641383

Institutional Source

Beutler Lab

Gene Symbol

Mak16

Ensembl Gene

ENSMUSG00000031578

Gene Name

MAK16 homolog

Synonyms

2600016B03Rik, Rbm13

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31159463-31168764 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31168669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 4 (D4G)

Ref Sequence

ENSEMBL: ENSMUSP00000033983 (fasta)

Gene Model

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

AlphaFold

Q8BGS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000033983
AA Change: D4G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
AA Change: D4G

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: ENSMUST00000210129

Meta Mutation Damage Score

0.7287

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,973,169	V834A	probably benign	Het
2700049A03Rik	A	G	12: 71,138,041		probably benign	Het
4930407I10Rik	T	C	15: 82,063,239	W446R	possibly damaging	Het
Aldh1l2	T	A	10: 83,490,615	E912D	probably damaging	Het
Apol9a	T	C	15: 77,405,020	D49G	possibly damaging	Het
Bnc2	A	T	4: 84,276,345	D847E	possibly damaging	Het
Ccdc91	A	G	6: 147,535,616	N100S	possibly damaging	Het
Copb2	G	T	9: 98,568,019	K10N	possibly damaging	Het
Cyp4a14	A	G	4: 115,491,078	S401P	probably damaging	Het
Cyp4f15	A	T	17: 32,697,940	Q277L	probably benign	Het
Dmxl2	A	T	9: 54,446,933	S410T	probably benign	Het
Dnah9	T	C	11: 65,989,818	N2651S	probably benign	Het
Efhb	A	G	17: 53,413,461		probably null	Het
Eif4ebp1	T	A	8: 27,275,096	F113L	probably damaging	Het
Emilin2	C	G	17: 71,255,146	D954H	probably damaging	Het
Eng	A	G	2: 32,678,993	T511A	probably benign	Het
Eps8l1	A	G	7: 4,471,818	D266G	probably damaging	Het
Fam120a	T	C	13: 48,933,957	H309R	possibly damaging	Het
Gga3	A	T	11: 115,587,008	S585T	probably benign	Het
Gm12117	T	C	11: 33,276,126	Q70R	probably damaging	Het
Gm15922	T	C	7: 3,736,483	D462G	probably benign	Het
Gpr158	A	G	2: 21,368,890	H212R	probably benign	Het
Hmgb1	A	G	5: 149,050,617	F41L	possibly damaging	Het
Iqcm	T	A	8: 75,753,490		probably benign	Het
Itgav	T	A	2: 83,765,777	I214N	probably damaging	Het
Kcna1	T	A	6: 126,642,292	H355L	probably benign	Het
Lrrc37a	C	T	11: 103,503,421	V393I	probably benign	Het
Metap2	C	T	10: 93,861,522	R432H	possibly damaging	Het
Nlrc4	G	A	17: 74,446,545	T281M	probably damaging	Het
Ntrk1	T	A	3: 87,781,563	Q561L	probably damaging	Het
Olfr1328	A	C	4: 118,934,150	S231A	probably damaging	Het
Olfr1493-ps1	A	G	19: 13,726,671	T137A	possibly damaging	Het
Polr2a	T	C	11: 69,737,456	I1304V	probably null	Het
Ppp4r2	T	C	6: 100,866,382	S354P	probably benign	Het
Ptchd3	A	G	11: 121,836,473	H391R	possibly damaging	Het
Rchy1	T	C	5: 91,951,903	D192G	probably damaging	Het
Rmdn1	T	C	4: 19,575,329		probably null	Het
Rp1	T	A	1: 4,348,349	I847L	probably benign	Het
Rtn1	T	C	12: 72,304,064	E457G	probably damaging	Het
Serpind1	G	A	16: 17,342,866	S420N	possibly damaging	Het
Sirpa	T	C	2: 129,616,223	V253A	probably damaging	Het
Snapc4	A	T	2: 26,378,534	F38L	probably benign	Het
Srcap	T	C	7: 127,557,797	F2321S	probably damaging	Het
Stat4	A	T	1: 52,102,916	I641F	probably damaging	Het
Tmem216	A	T	19: 10,551,827	F65Y	probably benign	Het
Tmem37	C	T	1: 120,068,252	V32M	possibly damaging	Het
Tmprss11c	T	G	5: 86,235,553	Q338P	probably damaging	Het
Tonsl	C	T	15: 76,633,263	S752N	probably benign	Het
Vmn1r26	T	C	6: 58,008,533	K224E	probably benign	Het
Vps13b	T	A	15: 35,886,954	V3229D	probably benign	Het
Vwa5b2	C	T	16: 20,591,222	R21W	probably damaging	Het
Wdr37	T	C	13: 8,853,573	R165G	unknown	Het
Yars2	T	C	16: 16,307,283	F388L	probably benign	Het
Ykt6	T	A	11: 5,962,366	D106E	probably benign	Het
Zc3h12a	A	C	4: 125,126,995	S18R	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
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
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'- ACTAGGGACTAAGGAAGCCC -3'
(R):5'- AGACGATATGTGCGCTCCTAG -3'

Sequencing Primer
(F):5'- TAAGGAAGCCCACCCGG -3'
(R):5'- GAGCACGCCAGGATCCAAG -3'

Posted On

2020-07-28