Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02439:Malsu1'

293385

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Malsu1

Ensembl Gene

ENSMUSG00000029815

Gene Name

mitochondrial assembly of ribosomal large subunit 1

Synonyms

2410003K15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL02439

Quality Score

Status

Chromosome

Chromosomal Location

49050729-49063685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49052121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 114 (Y114N)

Ref Sequence

ENSEMBL: ENSMUSP00000122941 (fasta)

Gene Model

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

AlphaFold

Q9CWV0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000031839

SMART Domains

Protein: ENSMUSP00000031839
Gene: ENSMUSG00000029815

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:Oligomerisation	87	188	1.1e-29	PFAM

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: Y114N

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

SMART Domains

Protein: ENSMUSP00000122941
Gene: ENSMUSG00000029815
AA Change: Y114N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205243

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	A	T	14: 4,348,890 (GRCm38)	Y17F	probably benign	Het
Ablim2	A	C	5: 36,015,206 (GRCm39)	T507P	possibly damaging	Het
Arhgef28	T	C	13: 98,067,647 (GRCm39)	Y1426C	possibly damaging	Het
Cftr	T	A	6: 18,258,237 (GRCm39)	Y592*	probably null	Het
Eogt	C	T	6: 97,120,934 (GRCm39)	G93D	possibly damaging	Het
Exosc9	A	G	3: 36,607,180 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,874,582 (GRCm39)	I1329V	probably benign	Het
Gal3st1	T	C	11: 3,948,110 (GRCm39)	F106L	possibly damaging	Het
Gulp1	A	T	1: 44,820,164 (GRCm39)	I216F	probably damaging	Het
Ints13	A	T	6: 146,455,721 (GRCm39)		probably benign	Het
Kars1	G	A	8: 112,724,268 (GRCm39)	T453I	probably benign	Het
Kif14	A	G	1: 136,417,999 (GRCm39)	D844G	probably damaging	Het
Lgals3bp	A	T	11: 118,289,046 (GRCm39)	C93S	probably damaging	Het
Lst1	T	C	17: 35,405,958 (GRCm39)	I32V	probably benign	Het
Ndufa5	A	T	6: 24,519,201 (GRCm39)	V41E	probably damaging	Het
Nme6	C	A	9: 109,670,999 (GRCm39)	P80T	probably damaging	Het
Odad2	T	A	18: 7,268,444 (GRCm39)	R358S	probably benign	Het
Or5ac20	A	G	16: 59,104,818 (GRCm39)	L14P	probably damaging	Het
Padi4	T	C	4: 140,473,532 (GRCm39)	D635G	probably damaging	Het
Pcf11	C	T	7: 92,311,049 (GRCm39)	S313N	possibly damaging	Het
Pdik1l	T	C	4: 134,006,015 (GRCm39)	H309R	probably benign	Het
Pdk2	A	T	11: 94,930,323 (GRCm39)		probably benign	Het
Pprc1	A	G	19: 46,060,758 (GRCm39)	S1606G	possibly damaging	Het
Ptch1	A	G	13: 63,692,910 (GRCm39)	I230T	probably damaging	Het
Scn10a	C	T	9: 119,447,914 (GRCm39)	R1381Q	probably benign	Het
Sestd1	T	C	2: 77,027,174 (GRCm39)	K479E	possibly damaging	Het
Sez6l2	C	T	7: 126,567,361 (GRCm39)	S892L	probably damaging	Het
Slc39a9	G	T	12: 80,713,350 (GRCm39)	A83S	probably benign	Het
Slc6a6	A	G	6: 91,726,808 (GRCm39)	Y483C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tas2r131	A	G	6: 132,934,732 (GRCm39)	S26P	probably damaging	Het
Timd2	A	G	11: 46,569,063 (GRCm39)		probably benign	Het
Tmem126a	T	C	7: 90,104,641 (GRCm39)	E27G	probably damaging	Het
Tns2	G	A	15: 102,022,978 (GRCm39)	G1256E	probably damaging	Het
Trpv6	T	A	6: 41,602,421 (GRCm39)	I322F	probably damaging	Het
Tshr	G	A	12: 91,504,321 (GRCm39)	V420M	probably damaging	Het
Ttn	C	A	2: 76,596,431 (GRCm39)	A20161S	probably damaging	Het
Vmn2r66	A	T	7: 84,654,455 (GRCm39)		probably benign	Het
Zfp438	T	A	18: 5,213,216 (GRCm39)	S581C	probably damaging	Het

Other mutations in Malsu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4631:Malsu1	UTSW	6	49,061,467 (GRCm39)	missense	probably damaging	1.00
R6890:Malsu1	UTSW	6	49,052,185 (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

Posted On

2015-04-16