Mutagenetix > Incidental Mutation

Incidental Mutation 'R0685:Lin37'

61120

Institutional Source

Beutler Lab

Gene Symbol

Lin37

Ensembl Gene

ENSMUSG00000036845

Gene Name

lin-37 homolog (C. elegans)

Synonyms

MMRRC Submission

038870-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.747) question?

Stock #

R0685 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

30555441-30559838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30555874 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 187 (E187G)

Ref Sequence

ENSEMBL: ENSMUSP00000048557 (fasta)

Gene Model

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

AlphaFold

Q9D8N6

Predicted Effect

probably damaging
Transcript: ENSMUST00000043975
AA Change: E187G

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

SMART Domains

Protein: ENSMUSP00000048557
Gene: ENSMUSG00000036845
AA Change: E187G

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: E175G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103799
Gene: ENSMUSG00000036845
AA Change: E175G

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

noncoding transcript
Transcript: ENSMUST00000134113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146732

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149400

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 damaging
Transcript: ENSMUST00000156241
AA Change: E198G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122248
Gene: ENSMUSG00000036845
AA Change: E198G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208706

Predicted Effect

probably benign
Transcript: ENSMUST00000215288

Meta Mutation Damage Score

0.0648

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (89/91)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,593,438	D17G	probably damaging	Het
Abi3bp	A	G	16: 56,532,953	T82A	possibly damaging	Het
Adgre4	A	C	17: 55,792,035	E180D	probably benign	Het
Ankrd28	G	A	14: 31,743,450		probably benign	Het
Aoc3	A	G	11: 101,336,447	D382G	possibly damaging	Het
Apob	C	A	12: 8,010,742	R3075S	probably benign	Het
Aqr	A	G	2: 114,140,977	F459S	probably damaging	Het
Bcr	T	C	10: 75,131,643	W570R	probably damaging	Het
Bloc1s5	C	T	13: 38,603,919	R163K	probably benign	Het
Bod1	A	T	11: 31,669,267	N101K	possibly damaging	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Chl1	G	A	6: 103,708,542		probably null	Het
Clstn1	G	A	4: 149,646,855	A885T	probably benign	Het
Cyp3a25	G	T	5: 145,998,546	P87T	probably damaging	Het
Dync1h1	T	C	12: 110,657,192	V3633A	probably damaging	Het
Elp4	C	A	2: 105,792,277	C241F	possibly damaging	Het
Fat4	T	A	3: 39,001,178	F4182Y	probably benign	Het
Gabbr2	G	A	4: 46,787,521	H381Y	possibly damaging	Het
Gm10577	G	T	4: 101,020,318		probably benign	Het
Gm884	T	C	11: 103,616,888		probably benign	Het
Gm9955	G	T	18: 24,709,257		probably benign	Het
Gstm5	T	A	3: 107,897,319	I73N	probably damaging	Het
Gypa	T	A	8: 80,496,702		probably benign	Het
Hectd2	T	A	19: 36,569,431	V64D	probably damaging	Het
Igkv10-95	T	A	6: 68,680,559	Y20N	probably benign	Het
Il15	T	C	8: 82,337,559		probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kiz	C	A	2: 146,856,058		probably benign	Het
Lcmt2	C	A	2: 121,139,240	S234I	probably benign	Het
Lilra5	A	G	7: 4,241,957		probably benign	Het
Mcmdc2	T	A	1: 9,911,814		probably null	Het
Mctp1	T	C	13: 76,825,799		probably null	Het
Mdp1	C	A	14: 55,659,269	G112*	probably null	Het
Mmp15	T	C	8: 95,372,134	Y530H	possibly damaging	Het
Mtss1l	T	C	8: 110,727,397		probably null	Het
Muc5ac	T	C	7: 141,807,709	S1586P	probably benign	Het
Nap1l5	A	T	6: 58,906,772	C66S	possibly damaging	Het
Ninl	G	T	2: 150,939,855	Q1237K	possibly damaging	Het
Olfr1160	T	C	2: 88,006,418	E111G	probably damaging	Het
Olfr495	A	T	7: 108,395,263	T48S	possibly damaging	Het
Orc6	T	G	8: 85,301,154	S37R	possibly damaging	Het
Papss1	A	C	3: 131,583,093	N119H	possibly damaging	Het
Phf13	A	T	4: 151,991,612	F278I	probably damaging	Het
Pole2	C	A	12: 69,211,413	A239S	probably damaging	Het
Ppt2	T	C	17: 34,626,572	D75G	probably damaging	Het
Psd2	A	G	18: 36,002,991	D443G	possibly damaging	Het
Psen1	C	A	12: 83,714,820	S132*	probably null	Het
Psme4	A	G	11: 30,878,415	T1812A	probably damaging	Het
Rasgrf1	T	C	9: 89,915,482		probably benign	Het
Reep3	A	G	10: 67,021,739		probably benign	Het
Rexo4	A	T	2: 26,958,574		probably benign	Het
Rnf6	A	C	5: 146,211,658	S183R	probably damaging	Het
Scai	A	T	2: 39,103,737	M297K	probably damaging	Het
Scn9a	A	T	2: 66,483,499	S1947R	probably benign	Het
Sema6c	T	C	3: 95,172,710	C772R	possibly damaging	Het
Skint7	T	C	4: 111,980,345	S107P	possibly damaging	Het
Slc24a3	A	G	2: 145,606,795	N420D	probably benign	Het
Smc1b	T	C	15: 85,070,820	D1077G	possibly damaging	Het
Smg7	G	A	1: 152,866,648	P82L	probably damaging	Het
Sp3	A	C	2: 72,970,998	F268V	probably damaging	Het
Srms	T	C	2: 181,212,633	D47G	probably benign	Het
Ss18	A	C	18: 14,651,181	M150R	probably damaging	Het
Taf5	G	A	19: 47,074,854	R281Q	probably benign	Het
Tars	T	C	15: 11,385,173	K644R	probably benign	Het
Tctex1d1	T	C	4: 103,002,538	Y96H	probably damaging	Het
Tinag	C	A	9: 76,952,003	W441L	probably damaging	Het
Tmtc1	T	C	6: 148,411,240	S244G	probably benign	Het
Tpr	T	C	1: 150,433,725	V1670A	possibly damaging	Het
Trpv3	A	G	11: 73,296,814		probably benign	Het
Uhrf1	G	T	17: 56,310,742	V155L	probably damaging	Het
Ush2a	G	A	1: 188,400,278	C899Y	probably damaging	Het
Vmn2r115	G	A	17: 23,359,275	R574H	probably benign	Het
Vmn2r63	T	C	7: 42,928,010	D368G	probably benign	Het
Vps13a	A	G	19: 16,780,741	V10A	probably damaging	Het
Wbp11	A	G	6: 136,814,638		probably benign	Het
Zcwpw1	A	G	5: 137,799,592	D145G	probably benign	Het
Zfp607a	G	A	7: 27,878,476	V324I	probably damaging	Het
Zfp618	A	G	4: 63,133,774	I931V	probably benign	Het
Zfp821	T	C	8: 109,724,542	V389A	possibly damaging	Het
Zfp976	T	A	7: 42,613,717	H232L	probably damaging	Het

Other mutations in Lin37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02994:Lin37	APN	7	30557160	missense	probably damaging	1.00
IGL03153:Lin37	APN	7	30557160	missense	probably damaging	1.00
R0360:Lin37	UTSW	7	30557013	missense	possibly damaging	0.92
R1836:Lin37	UTSW	7	30556943	missense	probably damaging	1.00
R6796:Lin37	UTSW	7	30556916	missense	probably damaging	1.00
R9103:Lin37	UTSW	7	30557630	missense	possibly damaging	0.63
X0022:Lin37	UTSW	7	30557010	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTGCTACAGAGGACACTGGGAC -3'
(R):5'- GGTAGGAGCGATGACACGTACTTTC -3'

Sequencing Primer
(F):5'- ACACTGGGACAAGCAGC -3'
(R):5'- atccacctgcctctgcc -3'

Posted On

2013-07-30