Mutagenetix > Incidental Mutation

Incidental Mutation 'R6890:Malsu1'

537151

Institutional Source

Beutler Lab

Gene Symbol

Malsu1

Ensembl Gene

ENSMUSG00000029815

Gene Name

mitochondrial assembly of ribosomal large subunit 1

Synonyms

2410003K15Rik

MMRRC Submission

044984-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R6890 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49050729-49063685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49052185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 135 (Y135C)

Ref Sequence

ENSEMBL: ENSMUSP00000122941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114500] [ENSMUST00000128616] [ENSMUST00000204260]

AlphaFold

Q9CWV0

Predicted Effect

probably benign
Transcript: ENSMUST00000114500

SMART Domains

Protein: ENSMUSP00000110144
Gene: ENSMUSG00000029815

Domain	Start	End	E-Value	Type
Pfam:Oligomerisation	18	69	9.9e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128616
AA Change: Y135C

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

SMART Domains

Protein: ENSMUSP00000122941
Gene: ENSMUSG00000029815
AA Change: Y135C

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
Pfam:Oligomerisation	94	195	3.3e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204260

SMART Domains

Protein: ENSMUSP00000145376
Gene: ENSMUSG00000029816

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
PKD	250	386	4.96e-9	SMART
transmembrane domain	503	525	N/A	INTRINSIC

Meta Mutation Damage Score

0.5576

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg3	T	C	16: 20,424,736 (GRCm39)	T270A	possibly damaging	Het
Ambp	G	C	4: 63,068,596 (GRCm39)	H140Q	probably benign	Het
Arhgef10	T	C	8: 14,978,786 (GRCm39)	C18R	probably benign	Het
Arhgef10l	A	G	4: 140,271,730 (GRCm39)	F548S	probably damaging	Het
Armh3	A	G	19: 45,948,796 (GRCm39)	Y228H	probably damaging	Het
Cdhr1	T	C	14: 36,807,602 (GRCm39)	D346G	probably damaging	Het
Col18a1	T	A	10: 76,949,318 (GRCm39)		probably benign	Het
Col1a2	T	A	6: 4,539,587 (GRCm39)	L1285Q	unknown	Het
Cspg5	T	C	9: 110,075,852 (GRCm39)	L196P	probably damaging	Het
Dusp10	T	G	1: 183,801,393 (GRCm39)	Y387D	probably damaging	Het
Epb41	A	T	4: 131,663,140 (GRCm39)	D681E	probably damaging	Het
Eps8	A	G	6: 137,489,255 (GRCm39)	V381A	probably damaging	Het
Fbxw16	A	T	9: 109,265,810 (GRCm39)	S336R	probably benign	Het
Gm49368	A	G	7: 127,680,901 (GRCm39)	R277G	probably benign	Het
Gsg1	C	T	6: 135,214,418 (GRCm39)	V320I	probably benign	Het
Iglc3	T	A	16: 18,884,258 (GRCm39)		probably benign	Het
Klc4	A	T	17: 46,942,769 (GRCm39)	N598K	probably benign	Het
Mapkbp1	T	C	2: 119,846,283 (GRCm39)	I477T	probably damaging	Het
Mtss1	G	T	15: 58,823,508 (GRCm39)	S286R	probably damaging	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Niban3	T	A	8: 72,058,315 (GRCm39)	V540D	probably damaging	Het
Npepps	A	T	11: 97,158,470 (GRCm39)	C98*	probably null	Het
Nphp3	A	C	9: 103,919,153 (GRCm39)	Y1267S	probably damaging	Het
Npr3	A	G	15: 11,883,478 (GRCm39)	V317A	possibly damaging	Het
Nsun6	A	G	2: 15,053,788 (GRCm39)	I7T	probably damaging	Het
Or13p4	A	G	4: 118,546,728 (GRCm39)	V307A	possibly damaging	Het
Or51ai2	A	T	7: 103,587,066 (GRCm39)	T160S	possibly damaging	Het
Or5b121	C	T	19: 13,507,445 (GRCm39)	T180I	probably damaging	Het
Pcnx1	A	G	12: 82,018,150 (GRCm39)	H1330R	probably benign	Het
Rad17	T	C	13: 100,773,592 (GRCm39)	I201V	probably benign	Het
Slc26a4	G	A	12: 31,599,950 (GRCm39)	T126M	possibly damaging	Het
Slitrk6	A	T	14: 110,988,528 (GRCm39)	L393*	probably null	Het
Snx2	A	G	18: 53,345,951 (GRCm39)	H378R	probably damaging	Het
Tex21	A	G	12: 76,286,229 (GRCm39)		probably null	Het
Trio	A	T	15: 27,919,374 (GRCm39)		probably benign	Het
Vpreb1b	T	C	16: 17,798,820 (GRCm39)	I102T	probably damaging	Het
Zfp617	T	G	8: 72,686,010 (GRCm39)	H113Q	probably benign	Het
Zgpat	T	A	2: 181,020,304 (GRCm39)	I237N	probably damaging	Het

Other mutations in Malsu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02439:Malsu1	APN	6	49,052,121 (GRCm39)	missense	probably damaging	1.00
R4631:Malsu1	UTSW	6	49,061,467 (GRCm39)	missense	probably damaging	1.00
R8691:Malsu1	UTSW	6	49,052,171 (GRCm39)	missense	probably benign	0.16
R9099:Malsu1	UTSW	6	49,050,731 (GRCm39)	unclassified	probably benign
R9336:Malsu1	UTSW	6	49,061,449 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGATCACATTGGTGCCAAG -3'
(R):5'- CAGACTCCTAGTGTCTTCTGGC -3'

Sequencing Primer
(F):5'- CACATTGGTGCCAAGTTTGAC -3'
(R):5'- CACGAATTAGAAATTATCTGGGCTCG -3'

Posted On

2018-10-18