Mutagenetix > Incidental Mutation

Incidental Mutation 'R4290:Tmem237'

322975

Institutional Source

Beutler Lab

Gene Symbol

Tmem237

Ensembl Gene

ENSMUSG00000038079

Gene Name

transmembrane protein 237

Synonyms

Als2cr4, LOC381259

MMRRC Submission

041655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R4290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59139749-59159567 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 59158995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066374] [ENSMUST00000078874] [ENSMUST00000087475] [ENSMUST00000094917] [ENSMUST00000114275] [ENSMUST00000186395] [ENSMUST00000186794] [ENSMUST00000186477] [ENSMUST00000190014] [ENSMUST00000191200]

AlphaFold

Q3V0J1

Predicted Effect

probably benign
Transcript: ENSMUST00000066374

SMART Domains

Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550

Domain	Start	End	E-Value	Type
L27	27	82	4.02e-9	SMART
L27	86	139	2.49e-14	SMART
PDZ	161	234	3.57e-11	SMART
SH3	244	310	2.94e-5	SMART
low complexity region	397	406	N/A	INTRINSIC
GuKc	425	618	1.21e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078874

SMART Domains

Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550

Domain	Start	End	E-Value	Type
L27	27	82	4.02e-9	SMART
L27	86	139	2.49e-14	SMART
PDZ	161	234	3.57e-11	SMART
SH3	244	310	2.94e-5	SMART
low complexity region	348	362	N/A	INTRINSIC
low complexity region	397	406	N/A	INTRINSIC
GuKc	425	618	1.21e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087475

SMART Domains

Protein: ENSMUSP00000084745
Gene: ENSMUSG00000038079

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:TMEM237	134	382	4.4e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094917

SMART Domains

Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079

Domain	Start	End	E-Value	Type
Pfam:TMEM237	148	391	3.4e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114275

SMART Domains

Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550

Domain	Start	End	E-Value	Type
L27	46	101	4.02e-9	SMART
L27	105	158	2.49e-14	SMART
PDZ	180	253	3.57e-11	SMART
SH3	263	329	2.94e-5	SMART
low complexity region	367	381	N/A	INTRINSIC
low complexity region	416	425	N/A	INTRINSIC
GuKc	444	637	1.21e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180570

Predicted Effect

probably benign
Transcript: ENSMUST00000186395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187825

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188494

Predicted Effect

probably benign
Transcript: ENSMUST00000186794

SMART Domains

Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079

Domain	Start	End	E-Value	Type
Pfam:TMEM237	158	406	5.2e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186477

SMART Domains

Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550

Domain	Start	End	E-Value	Type
L27	27	82	1.3e-11	SMART
L27	86	139	8.6e-17	SMART
PDZ	161	234	1.8e-13	SMART
SH3	222	297	5.1e-4	SMART
low complexity region	353	362	N/A	INTRINSIC
GuKc	381	574	5.8e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190014

SMART Domains

Protein: ENSMUSP00000140134
Gene: ENSMUSG00000038079

Domain	Start	End	E-Value	Type
Pfam:TMEM237	129	230	9e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191200

SMART Domains

Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550

Domain	Start	End	E-Value	Type
L27	27	82	4.02e-9	SMART
L27	86	139	2.49e-14	SMART
PDZ	161	234	3.57e-11	SMART
SH3	244	310	2.94e-5	SMART
low complexity region	342	356	N/A	INTRINSIC
low complexity region	391	400	N/A	INTRINSIC
GuKc	419	612	1.21e-50	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,539,738 (GRCm39)	N1545S	probably benign	Het
Arid1b	C	A	17: 5,090,938 (GRCm39)	S546R	probably damaging	Het
Arid3b	A	T	9: 57,697,713 (GRCm39)		probably benign	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Atpaf1	A	T	4: 115,645,556 (GRCm39)	M142L	probably benign	Het
Auts2	A	G	5: 131,503,809 (GRCm39)	S225P	probably damaging	Het
Bclaf1	A	G	10: 20,199,524 (GRCm39)	Q20R	probably damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cfap221	A	G	1: 119,858,650 (GRCm39)	S728P	probably benign	Het
Chrna9	A	G	5: 66,134,481 (GRCm39)	K444R	probably benign	Het
Cox10	A	T	11: 63,855,081 (GRCm39)	V400E	probably benign	Het
Dact2	C	T	17: 14,416,833 (GRCm39)	E456K	probably benign	Het
Ddr2	A	G	1: 169,818,178 (GRCm39)	V443A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
En1	C	A	1: 120,531,486 (GRCm39)	A242E	unknown	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gm6124	A	T	7: 38,872,195 (GRCm39)		noncoding transcript	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Hddc2	A	T	10: 31,190,583 (GRCm39)	M48L	possibly damaging	Het
Hepacam2	T	A	6: 3,487,237 (GRCm39)	Y40F	probably benign	Het
Ift80	A	G	3: 68,871,023 (GRCm39)	I191T	probably damaging	Het
Il19	T	A	1: 130,862,750 (GRCm39)	T58S	possibly damaging	Het
Itga2	G	A	13: 115,002,709 (GRCm39)	R594C	probably damaging	Het
Itga5	C	T	15: 103,260,684 (GRCm39)		probably null	Het
Kcna1	T	C	6: 126,618,838 (GRCm39)	D494G	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kmt2b	A	T	7: 30,281,261 (GRCm39)		probably null	Het
Kmt5b	T	C	19: 3,852,193 (GRCm39)	Y125H	possibly damaging	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Man1c1	T	A	4: 134,291,096 (GRCm39)	D600V	probably damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mccc1	A	G	3: 36,044,217 (GRCm39)	V203A	probably damaging	Het
Mettl5	T	C	2: 69,711,176 (GRCm39)	N114S	probably benign	Het
Mindy2	T	A	9: 70,538,376 (GRCm39)	R320W	probably damaging	Het
Nrip1	A	G	16: 76,088,876 (GRCm39)	S894P	probably benign	Het
Nup210l	A	T	3: 90,114,633 (GRCm39)	H1736L	probably benign	Het
Or14c46	A	T	7: 85,918,968 (GRCm39)	F10I	probably damaging	Het
Or2aj4	A	T	16: 19,384,994 (GRCm39)	M213K	possibly damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or2z9	A	G	8: 72,853,612 (GRCm39)	T3A	probably benign	Het
Or4e1	T	C	14: 52,701,442 (GRCm39)	N8S	probably damaging	Het
Or6b6	A	C	7: 106,570,918 (GRCm39)	L211R	probably damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Ppp4c	A	G	7: 126,391,231 (GRCm39)		probably null	Het
Rps15a-ps1	A	G	10: 106,028,496 (GRCm39)		noncoding transcript	Het
Rps27a	A	G	11: 29,495,933 (GRCm39)	Y140H	probably benign	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Ttc19	A	G	11: 62,176,753 (GRCm39)		probably null	Het
Ttf2	T	C	3: 100,870,077 (GRCm39)	D332G	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vcan	A	G	13: 89,873,605 (GRCm39)	V83A	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Xndc1	T	A	7: 101,730,694 (GRCm39)	L288M	possibly damaging	Het
Zfa-ps	A	T	10: 52,419,807 (GRCm39)		noncoding transcript	Het

Other mutations in Tmem237

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Tmem237	APN	1	59,146,612 (GRCm39)	critical splice donor site	probably null
IGL02184:Tmem237	APN	1	59,159,270 (GRCm39)	splice site	probably null
IGL03156:Tmem237	APN	1	59,148,286 (GRCm39)	missense	probably damaging	1.00
R0308:Tmem237	UTSW	1	59,146,676 (GRCm39)	missense	probably damaging	1.00
R0659:Tmem237	UTSW	1	59,153,253 (GRCm39)	missense	possibly damaging	0.62
R0981:Tmem237	UTSW	1	59,157,164 (GRCm39)	missense	probably damaging	1.00
R2032:Tmem237	UTSW	1	59,148,265 (GRCm39)	missense	probably benign	0.01
R2061:Tmem237	UTSW	1	59,159,445 (GRCm39)	unclassified	probably benign
R2245:Tmem237	UTSW	1	59,147,863 (GRCm39)	missense	probably damaging	1.00
R4293:Tmem237	UTSW	1	59,158,995 (GRCm39)	unclassified	probably benign
R4294:Tmem237	UTSW	1	59,158,995 (GRCm39)	unclassified	probably benign
R6793:Tmem237	UTSW	1	59,153,375 (GRCm39)	missense	probably benign	0.01
R7062:Tmem237	UTSW	1	59,158,771 (GRCm39)	splice site	probably null
R7632:Tmem237	UTSW	1	59,156,060 (GRCm39)	missense	probably benign	0.00
R8313:Tmem237	UTSW	1	59,147,237 (GRCm39)	missense	probably damaging	1.00
R8723:Tmem237	UTSW	1	59,145,731 (GRCm39)	missense	probably damaging	1.00
R8793:Tmem237	UTSW	1	59,146,613 (GRCm39)	missense	probably damaging	1.00
R8934:Tmem237	UTSW	1	59,153,338 (GRCm39)	missense	probably benign	0.36
R9427:Tmem237	UTSW	1	59,159,213 (GRCm39)	unclassified	probably benign
R9529:Tmem237	UTSW	1	59,147,215 (GRCm39)	missense	probably damaging	1.00
R9589:Tmem237	UTSW	1	59,159,146 (GRCm39)	missense	probably benign
R9797:Tmem237	UTSW	1	59,144,735 (GRCm39)	missense	probably damaging	1.00
Z1176:Tmem237	UTSW	1	59,155,088 (GRCm39)	missense	possibly damaging	0.77
Z1176:Tmem237	UTSW	1	59,155,086 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCGGAGACTAAATTCCCAAC -3'
(R):5'- CCGGTGGGGAGTTTGAATAC -3'

Sequencing Primer
(F):5'- CAGCTCAAAAGTACCTGAGGCTC -3'
(R):5'- TTGAATACGAGTCTGGTCCCGC -3'

Posted On

2015-06-20