Mutagenetix > Incidental Mutation

Incidental Mutation 'R8316:Msl1'

641705

Institutional Source

Beutler Lab

Gene Symbol

Msl1

Ensembl Gene

ENSMUSG00000052915

Gene Name

male specific lethal 1

Synonyms

4930463F05Rik, 4121402D02Rik, 2810017F12Rik

MMRRC Submission

067854-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R8316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98686342-98698685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98691074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 416 (K416I)

Ref Sequence

ENSEMBL: ENSMUSP00000042792 (fasta)

Gene Model

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

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: K416I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042792
Gene: ENSMUSG00000052915
AA Change: K416I

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: K186I

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

SMART Domains

Protein: ENSMUSP00000043328
Gene: ENSMUSG00000052915
AA Change: K186I

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

unknown
Transcript: ENSMUST00000107485
AA Change: K416I

SMART Domains

Protein: ENSMUSP00000103109
Gene: ENSMUSG00000052915
AA Change: K416I

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: K416I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103111
Gene: ENSMUSG00000052915
AA Change: K416I

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

SMART Domains

Protein: ENSMUSP00000116598
Gene: ENSMUSG00000052915
AA Change: K28I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	C	10: 78,903,573 (GRCm39)	C248G	probably damaging	Het
4933427D14Rik	A	T	11: 72,059,612 (GRCm39)	V693E	possibly damaging	Het
Abcc10	G	T	17: 46,638,735 (GRCm39)	L42I	probably damaging	Het
Alb	A	G	5: 90,616,449 (GRCm39)	E318G	probably benign	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Aox4	T	A	1: 58,293,470 (GRCm39)	C941S	possibly damaging	Het
Aqp9	A	G	9: 71,045,495 (GRCm39)	V38A	probably benign	Het
AW209491	A	G	13: 14,812,349 (GRCm39)	T401A	probably damaging	Het
Ccdc57	C	T	11: 120,776,742 (GRCm39)	A553T	probably damaging	Het
Celf2	C	T	2: 6,551,914 (GRCm39)	D522N	probably benign	Het
Cfap210	A	G	2: 69,612,287 (GRCm39)		probably null	Het
Cmpk2	A	G	12: 26,524,136 (GRCm39)	N311S	probably damaging	Het
Dcn	T	C	10: 97,330,939 (GRCm39)	I91T	probably damaging	Het
Defa30	G	A	8: 21,624,709 (GRCm39)	V11I	probably benign	Het
Dnmt3a	T	A	12: 3,946,965 (GRCm39)	V397E	probably benign	Het
Ehhadh	G	A	16: 21,585,053 (GRCm39)	A276V	probably benign	Het
Fibcd1	T	C	2: 31,723,791 (GRCm39)		probably benign	Het
Gpr156	A	G	16: 37,818,336 (GRCm39)	D344G	probably null	Het
H2-T5	A	G	17: 36,479,154 (GRCm39)	S32P	unknown	Het
Invs	G	T	4: 48,426,199 (GRCm39)	R995S	possibly damaging	Het
Itpr3	T	C	17: 27,325,199 (GRCm39)	M1264T	possibly damaging	Het
Lzic	C	T	4: 149,572,527 (GRCm39)	A39V	probably benign	Het
Marchf6	A	G	15: 31,482,650 (GRCm39)	L516P	possibly damaging	Het
Mecom	C	T	3: 30,011,529 (GRCm39)	E591K	probably benign	Het
Mical3	T	C	6: 120,911,944 (GRCm39)	D1916G	probably damaging	Het
Mms22l	T	C	4: 24,578,855 (GRCm39)	I738T	probably damaging	Het
Mroh2b	G	A	15: 4,980,746 (GRCm39)	W1438*	probably null	Het
Mroh8	G	T	2: 157,071,879 (GRCm39)	T542K	possibly damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Or51a10	A	T	7: 103,698,829 (GRCm39)	V244E	probably damaging	Het
Or5p5	G	T	7: 107,414,030 (GRCm39)	V82F	possibly damaging	Het
Or5p58	A	G	7: 107,694,450 (GRCm39)	F109S	probably benign	Het
Or6c70	A	G	10: 129,709,891 (GRCm39)	V245A	probably damaging	Het
Pdzk1ip1	T	A	4: 114,946,323 (GRCm39)	V61D	probably benign	Het
Plcxd1	A	T	5: 110,250,180 (GRCm39)	M212L	probably benign	Het
Pld1	A	G	3: 28,078,361 (GRCm39)	T7A	probably benign	Het
Ppm1n	T	C	7: 19,012,302 (GRCm39)	D310G	probably damaging	Het
Prpf8	A	G	11: 75,390,641 (GRCm39)	N1264S	possibly damaging	Het
Pum2	T	A	12: 8,763,456 (GRCm39)	N204K	possibly damaging	Het
Recql5	G	A	11: 115,784,861 (GRCm39)	T822I	possibly damaging	Het
Rfc1	T	C	5: 65,436,077 (GRCm39)	T656A	probably benign	Het
Sacs	T	C	14: 61,427,068 (GRCm39)	Y159H	possibly damaging	Het
Septin14	A	G	5: 129,773,194 (GRCm39)	S148P	probably damaging	Het
Slco1c1	T	A	6: 141,492,640 (GRCm39)	M341K	probably benign	Het
Smok2a	T	C	17: 13,445,160 (GRCm39)	S246P	probably damaging	Het
Spata9	C	A	13: 76,125,890 (GRCm39)	S124R	possibly damaging	Het
Sri	A	G	5: 8,113,317 (GRCm39)	N103D	probably damaging	Het
Sspo	G	A	6: 48,459,622 (GRCm39)	C3327Y	probably damaging	Het
Trank1	A	G	9: 111,178,370 (GRCm39)	M353V	probably benign	Het
Trim80	A	T	11: 115,332,006 (GRCm39)	E66V	probably damaging	Het
Txndc16	A	G	14: 45,448,641 (GRCm39)	L73P	probably damaging	Het
Ugt2b34	T	A	5: 87,039,249 (GRCm39)	M471L	probably damaging	Het
Ush2a	G	T	1: 188,178,899 (GRCm39)	V1357L	probably benign	Het
Usp15	G	T	10: 122,959,848 (GRCm39)	P855T		Het
Uspl1	C	T	5: 149,135,491 (GRCm39)	T290I	possibly damaging	Het
Zbtb2	A	C	10: 4,319,084 (GRCm39)	M314R	probably benign	Het
Zcchc2	A	G	1: 105,959,844 (GRCm39)	Y1151C	probably damaging	Het
Zmat3	T	C	3: 32,395,670 (GRCm39)	Y279C	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
U15987:Msl1	UTSW	11	98,689,519 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GCTGGCTCCTGAATTTTCAAAAGTC -3'
(R):5'- AAGGCCTTTCACACGTGTTAGC -3'

Sequencing Primer
(F):5'- GCTCCTGAATTTTCAAAAGTCAAAAC -3'
(R):5'- ACGTGTTAGCGTGACCG -3'

Posted On

2020-07-28