Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01743:Msl1'

152934

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01743

Quality Score

Status

Chromosome

Chromosomal Location

98686342-98698685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98696245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 597 (T597I)

Ref Sequence

ENSEMBL: ENSMUSP00000103111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017384] [ENSMUST00000037915] [ENSMUST00000037930] [ENSMUST00000107485] [ENSMUST00000107487] [ENSMUST00000169695]

AlphaFold

Q6PDM1

Predicted Effect

probably benign
Transcript: ENSMUST00000017384

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676

Domain	Start	End	E-Value	Type
low complexity region	18	62	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	89	109	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC
Btz	138	246	1.02e-57	SMART
low complexity region	524	533	N/A	INTRINSIC
low complexity region	586	614	N/A	INTRINSIC
low complexity region	627	648	N/A	INTRINSIC
low complexity region	669	684	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000037915
AA Change: T613I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042792
Gene: ENSMUSG00000052915
AA Change: T613I

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 damaging
Transcript: ENSMUST00000037930
AA Change: T367I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043328
Gene: ENSMUSG00000052915
AA Change: T367I

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 damaging
Transcript: ENSMUST00000107487
AA Change: T597I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103111
Gene: ENSMUSG00000052915
AA Change: T597I

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: ENSMUST00000141016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153181

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147065

Predicted Effect

probably benign
Transcript: ENSMUST00000169695

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676

Domain	Start	End	E-Value	Type
low complexity region	18	62	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	89	109	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC
Btz	138	246	1.02e-57	SMART
low complexity region	524	533	N/A	INTRINSIC
low complexity region	586	614	N/A	INTRINSIC
low complexity region	627	648	N/A	INTRINSIC
low complexity region	669	684	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,646,238 (GRCm39)	N750K	probably benign	Het
Ackr2	T	C	9: 121,738,566 (GRCm39)	C314R	probably benign	Het
Adar	C	T	3: 89,652,747 (GRCm39)	Q210*	probably null	Het
Aifm1	A	G	X: 47,569,153 (GRCm39)		probably benign	Het
Aldoa	G	T	7: 126,395,875 (GRCm39)	D198E	probably damaging	Het
Ampd1	T	A	3: 103,002,201 (GRCm39)		probably benign	Het
Arhgef18	G	T	8: 3,414,697 (GRCm39)	C25F	probably benign	Het
Btnl1	T	C	17: 34,604,659 (GRCm39)	I480T	probably damaging	Het
Capn9	T	C	8: 125,318,508 (GRCm39)	S125P	probably benign	Het
Cd40lg	T	A	X: 56,257,592 (GRCm39)	Y26*	probably null	Het
Cdc42bpg	G	T	19: 6,359,853 (GRCm39)		probably null	Het
Cdh10	T	C	15: 18,986,855 (GRCm39)	L362P	probably benign	Het
Dhx16	A	G	17: 36,199,000 (GRCm39)	D782G	probably damaging	Het
Dnajb14	G	T	3: 137,611,761 (GRCm39)	V320L	possibly damaging	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Ercc6	T	C	14: 32,274,561 (GRCm39)	V568A	probably damaging	Het
Faf2	T	C	13: 54,789,311 (GRCm39)		probably null	Het
Fbrsl1	C	T	5: 110,529,506 (GRCm39)	V223M	probably damaging	Het
Fcrl5	T	C	3: 87,351,598 (GRCm39)	V282A	probably damaging	Het
Fxr2	C	T	11: 69,543,448 (GRCm39)	L650F	possibly damaging	Het
Gabrq	A	G	X: 71,880,448 (GRCm39)	M314V	probably benign	Het
Gnas	T	A	2: 174,140,125 (GRCm39)	Y157*	probably null	Het
Gtf2i	T	C	5: 134,315,747 (GRCm39)	E175G	probably damaging	Het
Gtf3c1	A	C	7: 125,262,587 (GRCm39)	Y1091D	probably damaging	Het
Heatr5b	G	A	17: 79,132,069 (GRCm39)	Q345*	probably null	Het
Hydin	T	C	8: 111,319,408 (GRCm39)	V4437A	possibly damaging	Het
Idi2	T	A	13: 9,008,578 (GRCm39)	L112Q	probably damaging	Het
Ift80	C	T	3: 68,869,629 (GRCm39)	V221M	probably benign	Het
Il16	A	G	7: 83,301,507 (GRCm39)	F205S	probably benign	Het
Irf1	T	A	11: 53,665,277 (GRCm39)	M218K	probably benign	Het
Itga8	T	C	2: 12,270,144 (GRCm39)	N114S	probably benign	Het
Itgae	T	C	11: 73,002,585 (GRCm39)	V114A	probably benign	Het
Klhdc10	A	G	6: 30,441,933 (GRCm39)		probably null	Het
Krt78	C	A	15: 101,859,333 (GRCm39)	R288L	probably benign	Het
Lars2	A	T	9: 123,282,313 (GRCm39)	L632F	probably damaging	Het
Mpdz	T	C	4: 81,235,919 (GRCm39)	D1220G	probably damaging	Het
Mtor	T	C	4: 148,615,070 (GRCm39)		probably benign	Het
Myo1b	T	C	1: 51,821,179 (GRCm39)	T435A	probably damaging	Het
Neb	A	G	2: 52,115,679 (GRCm39)	Y4176H	probably damaging	Het
Nxpe3	A	G	16: 55,670,128 (GRCm39)	F326L	probably benign	Het
Or13a21	T	C	7: 139,999,581 (GRCm39)	Y35C	probably damaging	Het
Or2ag1	A	G	7: 106,313,541 (GRCm39)	S116P	possibly damaging	Het
Pak5	T	A	2: 135,929,333 (GRCm39)	R617W	probably damaging	Het
Peak1	C	A	9: 56,166,486 (GRCm39)	V481L	probably damaging	Het
Pik3ap1	G	A	19: 41,281,267 (GRCm39)		probably benign	Het
Pmm1	C	T	15: 81,844,987 (GRCm39)	E6K	probably benign	Het
Ppp2r5c	G	A	12: 110,546,868 (GRCm39)	V454M	probably benign	Het
Ptprf	C	T	4: 118,106,095 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,443,024 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,874,912 (GRCm39)		probably benign	Het
Rps6ka5	A	T	12: 100,541,892 (GRCm39)		probably null	Het
Scarb2	A	G	5: 92,608,662 (GRCm39)	V188A	probably benign	Het
Sfrp1	T	A	8: 23,902,354 (GRCm39)		probably benign	Het
Siglec15	T	A	18: 78,086,820 (GRCm39)		probably benign	Het
Smgc	A	G	15: 91,738,796 (GRCm39)	I485V	probably benign	Het
Tas2r124	A	G	6: 132,731,798 (GRCm39)	I36V	probably benign	Het
Trmt10b	G	T	4: 45,305,879 (GRCm39)	G185W	probably damaging	Het
Ttll4	A	G	1: 74,727,352 (GRCm39)	N798S	possibly damaging	Het
Ttn	G	T	2: 76,619,896 (GRCm39)	T15924N	probably damaging	Het
Utrn	A	T	10: 12,587,301 (GRCm39)	Y912N	possibly damaging	Het
Vmn2r113	T	C	17: 23,177,285 (GRCm39)	Y690H	probably benign	Het
Vmn2r51	T	C	7: 9,834,154 (GRCm39)	R295G	probably damaging	Het
Vpreb3	A	G	10: 75,784,231 (GRCm39)	T14A	probably benign	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
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
U15987:Msl1	UTSW	11	98,689,519 (GRCm39)	missense	probably benign	0.30

Posted On

2014-02-04