Mutagenetix > Incidental Mutation

Incidental Mutation 'R6796:Lin37'

533010

Institutional Source

Beutler Lab

Gene Symbol

Lin37

Ensembl Gene

ENSMUSG00000036845

Gene Name

lin-37 DREAM MuvB core complex component

Synonyms

1810054G18Rik

MMRRC Submission

044909-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R6796 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30254866-30259263 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30256341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 140 (V140E)

Ref Sequence

ENSEMBL: ENSMUSP00000122248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043898] [ENSMUST00000043975] [ENSMUST00000044048] [ENSMUST00000108164] [ENSMUST00000108165] [ENSMUST00000153594] [ENSMUST00000156241] [ENSMUST00000207747] [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 benign
Transcript: ENSMUST00000043975
AA Change: V129E

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000048557
Gene: ENSMUSG00000036845
AA Change: V129E

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 benign
Transcript: ENSMUST00000108164
AA Change: V117E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103799
Gene: ENSMUSG00000036845
AA Change: V117E

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

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: V140E

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

SMART Domains

Protein: ENSMUSP00000122248
Gene: ENSMUSG00000036845
AA Change: V140E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207747

Predicted Effect

probably benign
Transcript: ENSMUST00000215288

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

98% (41/42)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,620,597 (GRCm39)	V3950A	probably damaging	Het
App	A	G	16: 84,917,455 (GRCm39)	I63T	probably damaging	Het
Bpifb4	A	T	2: 153,803,467 (GRCm39)	K381N	probably damaging	Het
Cdc45	C	T	16: 18,603,607 (GRCm39)	A529T	probably damaging	Het
Cdh18	T	A	15: 23,446,159 (GRCm39)	N536K	probably damaging	Het
Dpy19l1	C	A	9: 24,414,158 (GRCm39)	R90L	possibly damaging	Het
E2f3	A	G	13: 30,102,568 (GRCm39)	V231A	possibly damaging	Het
F930015N05Rik	A	T	11: 64,326,229 (GRCm39)		probably benign	Het
Fcer2a	T	C	8: 3,739,830 (GRCm39)	H47R	possibly damaging	Het
Hcar2	A	G	5: 124,003,330 (GRCm39)	S58P	probably benign	Het
Hivep3	A	G	4: 119,953,558 (GRCm39)	T625A	possibly damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Itgax	C	T	7: 127,734,236 (GRCm39)	A336V	probably damaging	Het
Malrd1	T	A	2: 15,874,595 (GRCm39)	I1341K	unknown	Het
Map4k5	T	C	12: 69,864,799 (GRCm39)	I561V	probably benign	Het
Mcc	A	G	18: 44,857,627 (GRCm39)	S163P	probably benign	Het
Nlrp12	T	C	7: 3,290,039 (GRCm39)	T158A	probably damaging	Het
Or5an6	A	T	19: 12,372,292 (GRCm39)	I222F	probably damaging	Het
Or5b119	A	G	19: 13,457,278 (GRCm39)	C95R	probably damaging	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Pax8	A	T	2: 24,331,098 (GRCm39)	M200K	probably benign	Het
Plcd4	T	C	1: 74,601,229 (GRCm39)	S498P	probably benign	Het
Poglut1	T	C	16: 38,349,972 (GRCm39)	Y267C	probably damaging	Het
Pom121l2	T	C	13: 22,167,694 (GRCm39)	I655T	probably benign	Het
Proca1	G	T	11: 78,085,754 (GRCm39)	R19L	probably benign	Het
Prr30	A	G	14: 101,436,380 (GRCm39)	S61P	probably benign	Het
Ranbp17	T	C	11: 33,167,398 (GRCm39)	S1022G	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpgrip1	A	G	14: 52,387,469 (GRCm39)	H1037R	probably damaging	Het
Rpl34	G	T	3: 130,522,926 (GRCm39)	T6K	probably damaging	Het
Scaper	T	C	9: 55,771,711 (GRCm39)	T402A	probably benign	Het
Selenow	A	T	7: 15,653,996 (GRCm39)	V52E	probably damaging	Het
Septin14	T	A	5: 129,774,822 (GRCm39)	I118L	probably benign	Het
Sis	A	T	3: 72,872,951 (GRCm39)	N62K	probably benign	Het
Sit1	A	T	4: 43,482,761 (GRCm39)	C133S	probably benign	Het
Susd3	ACC	AC	13: 49,391,041 (GRCm39)		probably null	Het
Svep1	A	G	4: 58,064,275 (GRCm39)	V3236A	probably benign	Het
Taf12	G	A	4: 132,016,725 (GRCm39)	V168I	possibly damaging	Het
Tas2r139	A	T	6: 42,118,526 (GRCm39)	R219S	probably damaging	Het
Tmc1	A	T	19: 20,776,400 (GRCm39)	V653D	probably damaging	Het
Utp23	T	A	15: 51,741,007 (GRCm39)	L30Q	probably damaging	Het

Other mutations in Lin37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02994:Lin37	APN	7	30,256,585 (GRCm39)	missense	probably damaging	1.00
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
R9103:Lin37	UTSW	7	30,257,055 (GRCm39)	missense	possibly damaging	0.63
X0022:Lin37	UTSW	7	30,256,435 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTATGTGGCCTAGGGACCTC -3'
(R):5'- CTCAGAGATCCAGTGAGTAGGC -3'

Sequencing Primer
(F):5'- GCAAATAGCTATCTGTCCTACCCG -3'
(R):5'- TCCAGTGAGTAGGCAGGGGAC -3'

Posted On

2018-08-29