Mutagenetix > Incidental Mutations

Incidental Mutation 'R8313:Tmem237'

641480

Institutional Source

Beutler Lab

Gene Symbol

Tmem237

Ensembl Gene

ENSMUSG00000038079

Gene Name

transmembrane protein 237

Synonyms

Als2cr4, LOC381259

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R8313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59100590-59120408 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59108078 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 299 (Y299N)

Ref Sequence

ENSEMBL: ENSMUSP00000139823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087475] [ENSMUST00000094917] [ENSMUST00000186395] [ENSMUST00000186794] [ENSMUST00000190014]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087475
AA Change: Y275N

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

SMART Domains

Protein: ENSMUSP00000084745
Gene: ENSMUSG00000038079
AA Change: Y275N

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 damaging
Transcript: ENSMUST00000094917
AA Change: Y285N

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

SMART Domains

Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079
AA Change: Y285N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186395

Predicted Effect

probably damaging
Transcript: ENSMUST00000186794
AA Change: Y299N

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

SMART Domains

Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079
AA Change: Y299N

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl2	C	T	17: 79,852,604	W518*	probably null	Het
Atp13a2	G	A	4: 141,002,735	V646I	probably benign	Het
Bcar1	A	T	8: 111,713,638	F575I	probably benign	Het
Bpifa6	T	A	2: 153,989,258	L248*	probably null	Het
Ccdc38	T	C	10: 93,563,249	L193P	probably damaging	Het
Ch25h	A	C	19: 34,474,738	I130S	probably benign	Het
Chaf1a	C	A	17: 56,044,109	Q30K	unknown	Het
Dab2ip	T	C	2: 35,727,428	L1106S	probably damaging	Het
Dnah3	A	G	7: 119,951,152	Y3315H	probably benign	Het
Dnah7b	G	A	1: 46,175,296	V1074I	possibly damaging	Het
Efemp1	A	G	11: 28,910,691	Q200R	probably benign	Het
Epx	C	T	11: 87,872,731	R221Q	possibly damaging	Het
Exosc7	T	C	9: 123,127,877	L109P	probably damaging	Het
Fam150b	G	T	12: 30,884,851	G23V	probably damaging	Het
Fbxo22	T	A	9: 55,221,060	F222I	probably damaging	Het
Fcgbp	A	G	7: 28,086,344	D402G	probably benign	Het
Foxr1	A	G	9: 44,436,054	V62A	probably damaging	Het
Gm2016	A	T	12: 87,876,994	D137V	unknown	Het
Gm8267	A	T	14: 44,724,058	H59Q	probably damaging	Het
Gnptab	T	A	10: 88,439,209	Y1090N	probably damaging	Het
Gpr20	A	G	15: 73,696,312	F76S	probably damaging	Het
Gpr33	A	G	12: 52,024,124	V44A	probably benign	Het
Grin3a	G	A	4: 49,665,599	T1012I	probably benign	Het
Itga1	T	A	13: 114,966,584	T1104S	probably benign	Het
Kidins220	T	A	12: 25,004,111	Y537N	probably damaging	Het
Lama1	A	G	17: 67,750,520	T530A		Het
Lysmd2	A	T	9: 75,625,758		probably benign	Het
Mdk	T	C	2: 91,930,833	K128E	unknown	Het
Mphosph8	AC	A	14: 56,678,605		probably null	Het
Muc16	A	C	9: 18,525,147	L7915W	possibly damaging	Het
Muc4	A	T	16: 32,753,423	T1100S	probably benign	Het
Mxra7	T	C	11: 116,804,550	Y176C	probably damaging	Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Myo18b	A	G	5: 112,875,179	S116P	unknown	Het
Noc3l	A	G	19: 38,795,810	L543P	probably damaging	Het
Olfr1355	C	T	10: 78,879,336	P55S	probably benign	Het
Olfr192	C	T	16: 59,098,641	G117D	unknown	Het
Olfr250	T	A	9: 38,368,050	V168E	probably damaging	Het
Pkm	G	T	9: 59,668,619	R106L	probably benign	Het
Prkab2	G	T	3: 97,663,595	V112F	probably benign	Het
Prkaca	A	T	8: 83,990,522	N172Y	probably damaging	Het
Prmt8	A	G	6: 127,689,850	V387A	probably benign	Het
Rad17	T	C	13: 100,624,566	T485A	probably benign	Het
Rita1	G	T	5: 120,609,651	T194K	possibly damaging	Het
Rogdi	C	A	16: 5,013,449		probably benign	Het
Senp5	T	C	16: 31,989,299	D379G	probably benign	Het
Slc4a4	A	G	5: 89,046,263	K201E	possibly damaging	Het
Slc9a4	C	T	1: 40,580,360		probably benign	Het
Tmem175	T	A	5: 108,643,209	S208R	probably benign	Het
Tnrc6a	T	A	7: 123,170,713	N575K	possibly damaging	Het
Trak2	A	T	1: 58,921,147	C232*	probably null	Het
Ubr3	A	G	2: 69,945,134	H589R	probably damaging	Het
Vcp	T	C	4: 42,988,728	T249A	possibly damaging	Het
Vmn1r208	G	C	13: 22,772,777	I183M	probably benign	Het
Vmn1r231	C	T	17: 20,890,027	V209I	probably benign	Het
Vmn1r80	T	C	7: 12,193,067	F35L	probably benign	Het
Vmn2r58	A	T	7: 41,872,528	I48N	probably benign	Het
Vstm2a	T	A	11: 16,281,898	V231E	probably damaging	Het
Zfp108	A	C	7: 24,260,662	Y226S	possibly damaging	Het
Zfp445	A	T	9: 122,853,630	N415K	possibly damaging	Het
Zfp938	T	G	10: 82,225,588	R399S	possibly damaging	Het
Zmym4	G	A	4: 126,910,969	H464Y	probably benign	Het

Other mutations in Tmem237

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Tmem237	APN	1	59107453	critical splice donor site	probably null
IGL02184:Tmem237	APN	1	59120111	splice site	probably null
IGL03156:Tmem237	APN	1	59109127	missense	probably damaging	1.00
R0308:Tmem237	UTSW	1	59107517	missense	probably damaging	1.00
R0659:Tmem237	UTSW	1	59114094	missense	possibly damaging	0.62
R0981:Tmem237	UTSW	1	59118005	missense	probably damaging	1.00
R2032:Tmem237	UTSW	1	59109106	missense	probably benign	0.01
R2061:Tmem237	UTSW	1	59120286	unclassified	probably benign
R2245:Tmem237	UTSW	1	59108704	missense	probably damaging	1.00
R4290:Tmem237	UTSW	1	59119836	unclassified	probably benign
R4293:Tmem237	UTSW	1	59119836	unclassified	probably benign
R4294:Tmem237	UTSW	1	59119836	unclassified	probably benign
R6793:Tmem237	UTSW	1	59114216	missense	probably benign	0.01
R7062:Tmem237	UTSW	1	59119612	splice site	probably null
R7632:Tmem237	UTSW	1	59116901	missense	probably benign	0.00
Z1176:Tmem237	UTSW	1	59115927	missense	probably damaging	1.00
Z1176:Tmem237	UTSW	1	59115929	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- CACAATGTACTTCCCTCGGTG -3'
(R):5'- AAACTCTTCTGTGCAGGATGG -3'

Sequencing Primer
(F):5'- TGAGAGCAGGCATCTTTACC -3'
(R):5'- CAGGATGGTCGGTCTGTTCTCTC -3'

Posted On

2020-07-28