Mutagenetix > Incidental Mutation

Incidental Mutation 'U15987:Msl1'

478378

Institutional Source

Beutler Lab

Gene Symbol

Msl1

Ensembl Gene

ENSMUSG00000052915

Gene Name

male specific lethal 1

Synonyms

4930463F05Rik, 4121402D02Rik, 2810017F12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

U15987 (G0')

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98686342-98698685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98689519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 9 (G9C)

Ref Sequence

ENSEMBL: ENSMUSP00000043328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037915] [ENSMUST00000037930] [ENSMUST00000107485] [ENSMUST00000107487]

AlphaFold

Q6PDM1

PDB Structure

CRYSTAL STRUCTURE OF THE COMPLEX BETWEEN DOSAGE COMPENSATION FACTORS MSL1 AND MOF [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE COMPLEX BETWEEN DOSAGE COMPENSATION FACTORS MSL1 AND MSL3 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000037915

SMART Domains

Protein: ENSMUSP00000042792
Gene: ENSMUSG00000052915

Domain	Start	End	E-Value	Type
low complexity region	10	15	N/A	INTRINSIC
low complexity region	55	91	N/A	INTRINSIC
low complexity region	153	196	N/A	INTRINSIC
Pfam:MSL1_dimer	216	252	5e-22	PFAM
low complexity region	289	300	N/A	INTRINSIC
low complexity region	441	453	N/A	INTRINSIC
PEHE	475	593	1.8e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000037930
AA Change: G9C

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043328
Gene: ENSMUSG00000052915
AA Change: G9C

Domain	Start	End	E-Value	Type
coiled coil region	18	56	N/A	INTRINSIC
low complexity region	59	70	N/A	INTRINSIC
low complexity region	211	223	N/A	INTRINSIC
PEHE	229	347	2.73e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107485

SMART Domains

Protein: ENSMUSP00000103109
Gene: ENSMUSG00000052915

Domain	Start	End	E-Value	Type
low complexity region	10	15	N/A	INTRINSIC
low complexity region	55	91	N/A	INTRINSIC
low complexity region	153	196	N/A	INTRINSIC
low complexity region	210	222	N/A	INTRINSIC
SCOP:d1fxkc_	235	307	2e-3	SMART
low complexity region	441	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107487

SMART Domains

Protein: ENSMUSP00000103111
Gene: ENSMUSG00000052915

Domain	Start	End	E-Value	Type
low complexity region	10	15	N/A	INTRINSIC
low complexity region	55	91	N/A	INTRINSIC
low complexity region	153	196	N/A	INTRINSIC
low complexity region	210	222	N/A	INTRINSIC
SCOP:d1fxkc_	235	307	6e-3	SMART
low complexity region	441	453	N/A	INTRINSIC
PEHE	459	577	2.73e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126969

SMART Domains

Protein: ENSMUSP00000116598
Gene: ENSMUSG00000052915

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC
Pfam:PEHE	88	141	1.1e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153181

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.1%
20x: 90.8%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	C	2: 152,282,790 (GRCm39)	V215A	probably damaging	Het
Abcc8	T	C	7: 45,755,268 (GRCm39)	M1511V	probably benign	Het
Abcc9	A	G	6: 142,585,301 (GRCm39)	F801S	probably damaging	Het
Abhd14a	A	T	9: 106,321,065 (GRCm39)	S97T	possibly damaging	Het
Adam39	C	T	8: 41,277,630 (GRCm39)	A7V	probably benign	Het
Adamts2	T	A	11: 50,647,533 (GRCm39)	I302N	probably damaging	Het
Akap9	T	C	5: 4,117,924 (GRCm39)		probably null	Het
Cbfa2t3	T	C	8: 123,370,236 (GRCm39)	H53R	probably benign	Het
Cdc20b	T	C	13: 113,220,576 (GRCm39)	F485S	probably damaging	Het
Ctnna1	T	C	18: 35,287,567 (GRCm39)	V92A	probably benign	Het
Dlat	A	T	9: 50,556,417 (GRCm39)		probably null	Het
Edc4	C	T	8: 106,614,180 (GRCm39)	R19C	probably benign	Het
Fam90a1b	T	C	X: 93,400,191 (GRCm39)	N213S	probably benign	Het
Gcg	A	G	2: 62,306,148 (GRCm39)	S150P	probably damaging	Het
Gk5	C	T	9: 96,058,290 (GRCm39)	Q424*	probably null	Het
Insm2	T	C	12: 55,646,799 (GRCm39)	I181T	probably damaging	Het
Itgae	A	G	11: 73,006,400 (GRCm39)	E356G	possibly damaging	Het
Kitl	G	A	10: 99,912,768 (GRCm39)		probably null	Het
Muc4	T	A	16: 32,575,621 (GRCm39)		probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo3b	T	C	2: 70,069,243 (GRCm39)	V494A	possibly damaging	Het
Myo7a	C	T	7: 97,714,997 (GRCm39)	W1558*	probably null	Het
Nop14	T	C	5: 34,815,295 (GRCm39)	D85G	probably damaging	Het
Or1ak2	G	A	2: 36,827,241 (GRCm39)	V37I	probably benign	Het
Or5p81	T	A	7: 108,267,412 (GRCm39)	V263E	probably damaging	Het
Pgk1	C	A	X: 105,238,098 (GRCm39)	L85I	possibly damaging	Het
Pik3c2b	G	A	1: 133,002,365 (GRCm39)		probably null	Het
Plagl1	G	A	10: 13,003,490 (GRCm39)	G253R	probably damaging	Het
Ppp4r1	G	A	17: 66,121,343 (GRCm39)	V268I	possibly damaging	Het
Pramel27	T	G	4: 143,578,155 (GRCm39)	H87Q	possibly damaging	Het
Rad23b	C	T	4: 55,370,400 (GRCm39)	A142V	probably damaging	Het
Satl1	T	C	X: 111,315,613 (GRCm39)	T281A	probably benign	Het
Slc13a1	T	C	6: 24,133,656 (GRCm39)	T199A	probably benign	Het
Spmap2	A	G	10: 79,420,589 (GRCm39)	S159P	probably damaging	Het
Synrg	A	G	11: 83,915,126 (GRCm39)	E1044G	probably damaging	Het
Syt12	T	C	19: 4,506,896 (GRCm39)	D83G	probably benign	Het
Tbx5	T	C	5: 120,021,211 (GRCm39)	S406P	probably benign	Het
Tfe3	T	C	X: 7,637,288 (GRCm39)	L231P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn1r29	T	C	6: 58,285,080 (GRCm39)	F267L	probably benign	Het
Vmn2r79	T	A	7: 86,653,319 (GRCm39)	V528D	possibly damaging	Het
Zfp1	T	C	8: 112,396,975 (GRCm39)	F299S	probably damaging	Het

Other mutations in Msl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00645:Msl1	APN	11	98,696,247 (GRCm39)	missense	probably damaging	1.00
IGL01743:Msl1	APN	11	98,696,245 (GRCm39)	missense	probably damaging	1.00
IGL01845:Msl1	APN	11	98,696,191 (GRCm39)	splice site	probably null
R1458:Msl1	UTSW	11	98,694,808 (GRCm39)	splice site	probably benign
R2377:Msl1	UTSW	11	98,694,789 (GRCm39)	missense	probably damaging	1.00
R2979:Msl1	UTSW	11	98,691,050 (GRCm39)	missense	possibly damaging	0.91
R4135:Msl1	UTSW	11	98,687,126 (GRCm39)	missense	possibly damaging	0.85
R4801:Msl1	UTSW	11	98,694,795 (GRCm39)	nonsense	probably null
R4802:Msl1	UTSW	11	98,694,795 (GRCm39)	nonsense	probably null
R5971:Msl1	UTSW	11	98,689,519 (GRCm39)	missense	probably benign	0.30
R6079:Msl1	UTSW	11	98,689,519 (GRCm39)	missense	probably benign	0.30
R6165:Msl1	UTSW	11	98,695,673 (GRCm39)	missense	probably damaging	1.00
R6733:Msl1	UTSW	11	98,690,882 (GRCm39)	missense	probably damaging	1.00
R6737:Msl1	UTSW	11	98,694,908 (GRCm39)	missense	probably damaging	1.00
R7654:Msl1	UTSW	11	98,686,937 (GRCm39)	missense	possibly damaging	0.72
R8316:Msl1	UTSW	11	98,691,074 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTGGTACTGCTATCCCTAGG -3'
(R):5'- TCTGGATGGCAAGAAGCTAG -3'

Sequencing Primer
(F):5'- TCCCTAGGGACGCTCTGTGAG -3'
(R):5'- ACTGGGCAGCCTGAAGC -3'

Posted On

2017-06-26