Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02994:Lin37'

407069

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lin37

Ensembl Gene

ENSMUSG00000036845

Gene Name

lin-37 DREAM MuvB core complex component

Synonyms

1810054G18Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.706) question?

Stock #

IGL02994

Quality Score

Status

Chromosome

Chromosomal Location

30254866-30259263 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30256585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 84 (R84W)

Ref Sequence

ENSEMBL: ENSMUSP00000122248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043898] [ENSMUST00000043975] [ENSMUST00000044048] [ENSMUST00000108164] [ENSMUST00000108165] [ENSMUST00000156241] [ENSMUST00000207031] [ENSMUST00000208628] [ENSMUST00000207747] [ENSMUST00000153594] [ENSMUST00000215288]

AlphaFold

Q9D8N6

Predicted Effect

probably benign
Transcript: ENSMUST00000043898

SMART Domains

Protein: ENSMUSP00000044682
Gene: ENSMUSG00000036835

Domain	Start	End	E-Value	Type
Pfam:PEN-2	7	99	2.9e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000043975
AA Change: R73W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048557
Gene: ENSMUSG00000036845
AA Change: R73W

Domain	Start	End	E-Value	Type
Pfam:LIN37	84	240	5e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044048

SMART Domains

Protein: ENSMUSP00000039172
Gene: ENSMUSG00000036854

Domain	Start	End	E-Value	Type
Pfam:Crystallin	1	62	4.4e-24	PFAM
Pfam:HSP20	66	158	5.6e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108164
AA Change: R61W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103799
Gene: ENSMUSG00000036845
AA Change: R61W

Domain	Start	End	E-Value	Type
Pfam:LIN37	58	229	1.4e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108165

SMART Domains

Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864

Domain	Start	End	E-Value	Type
low complexity region	33	56	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC
low complexity region	179	202	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
low complexity region	388	407	N/A	INTRINSIC
low complexity region	599	614	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126989

Predicted Effect

probably damaging
Transcript: ENSMUST00000156241
AA Change: R84W

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

SMART Domains

Protein: ENSMUSP00000122248
Gene: ENSMUSG00000036845
AA Change: R84W

Domain	Start	End	E-Value	Type
Pfam:LIN37	80	202	7.5e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146732

Predicted Effect

probably benign
Transcript: ENSMUST00000207031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134113

Predicted Effect

probably benign
Transcript: ENSMUST00000208628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209110

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149400

Predicted Effect

probably benign
Transcript: ENSMUST00000207747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146548

Predicted Effect

probably benign
Transcript: ENSMUST00000153594

SMART Domains

Protein: ENSMUSP00000123095
Gene: ENSMUSG00000036864

Domain	Start	End	E-Value	Type
low complexity region	33	56	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215288

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein expressed in the eye. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,186,602 (GRCm39)		probably benign	Het
Ahnak2	A	G	12: 112,749,827 (GRCm39)	V137A	probably damaging	Het
Alk	G	T	17: 72,256,815 (GRCm39)	F681L	probably benign	Het
Ankrd35	T	C	3: 96,590,307 (GRCm39)		probably benign	Het
Aqp3	A	T	4: 41,093,614 (GRCm39)	C267S	probably benign	Het
Arl13b	T	A	16: 62,632,366 (GRCm39)	I76F	probably damaging	Het
Ccn2	T	A	10: 24,472,763 (GRCm39)	N224K	probably damaging	Het
Cdc42bpa	G	T	1: 179,827,002 (GRCm39)	R85L	probably damaging	Het
Dock4	T	G	12: 40,829,159 (GRCm39)	I1015R	probably damaging	Het
Dst	A	G	1: 34,268,333 (GRCm39)		probably benign	Het
Egfr	T	C	11: 16,861,811 (GRCm39)	Y1197H	probably damaging	Het
Endod1	A	G	9: 14,268,183 (GRCm39)	V434A	possibly damaging	Het
Exosc9	A	G	3: 36,607,287 (GRCm39)		probably benign	Het
Fgg	G	T	3: 82,915,781 (GRCm39)	R74L	probably benign	Het
Fmo2	A	T	1: 162,708,189 (GRCm39)	D315E	probably damaging	Het
H2-M3	G	A	17: 37,581,629 (GRCm39)	S97N	probably benign	Het
Ighv14-2	T	A	12: 113,958,211 (GRCm39)	T77S	probably benign	Het
Klhl9	A	T	4: 88,639,434 (GRCm39)	L269*	probably null	Het
Macroh2a1	T	C	13: 56,252,112 (GRCm39)		probably benign	Het
Mkln1	T	C	6: 31,467,378 (GRCm39)	S31P	probably damaging	Het
Nacad	A	G	11: 6,549,528 (GRCm39)	L1221P	possibly damaging	Het
Nbr1	A	T	11: 101,447,053 (GRCm39)	N13I	probably damaging	Het
Ndfip1	T	C	18: 38,585,469 (GRCm39)	I161T	probably damaging	Het
Nsg1	A	G	5: 38,312,946 (GRCm39)		probably benign	Het
Rsbn1l	G	T	5: 21,113,232 (GRCm39)	T430K	probably damaging	Het
Serpina6	A	G	12: 103,620,210 (GRCm39)	S180P	probably benign	Het
Slc4a5	T	C	6: 83,249,106 (GRCm39)	L570P	probably damaging	Het
Tank	A	G	2: 61,480,636 (GRCm39)		probably benign	Het
Tpd52	A	G	3: 9,012,590 (GRCm39)	F76L	probably benign	Het
Ubox5	A	C	2: 130,442,237 (GRCm39)	L150R	probably benign	Het
Zfp710	T	C	7: 79,731,581 (GRCm39)	S253P	probably benign	Het

Other mutations in Lin37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03153:Lin37	APN	7	30,256,585 (GRCm39)	missense	probably damaging	1.00
R0360:Lin37	UTSW	7	30,256,438 (GRCm39)	missense	possibly damaging	0.92
R0685:Lin37	UTSW	7	30,255,299 (GRCm39)	missense	probably damaging	1.00
R1836:Lin37	UTSW	7	30,256,368 (GRCm39)	missense	probably damaging	1.00
R6796:Lin37	UTSW	7	30,256,341 (GRCm39)	missense	probably damaging	1.00
R9103:Lin37	UTSW	7	30,257,055 (GRCm39)	missense	possibly damaging	0.63
X0022:Lin37	UTSW	7	30,256,435 (GRCm39)	nonsense	probably null

Posted On

2016-08-02