Mutagenetix > Incidental Mutation

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

067797-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59139749-59159567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59147237 bp (GRCm39)

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]

AlphaFold

Q3V0J1

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
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Atl2	C	T	17: 80,160,033 (GRCm39)	W518*	probably null	Het
Atp13a2	G	A	4: 140,730,046 (GRCm39)	V646I	probably benign	Het
Bcar1	A	T	8: 112,440,270 (GRCm39)	F575I	probably benign	Het
Bpifa6	T	A	2: 153,831,178 (GRCm39)	L248*	probably null	Het
Ccdc38	T	C	10: 93,399,111 (GRCm39)	L193P	probably damaging	Het
Ch25h	A	C	19: 34,452,138 (GRCm39)	I130S	probably benign	Het
Chaf1a	C	A	17: 56,351,109 (GRCm39)	Q30K	unknown	Het
Dab2ip	T	C	2: 35,617,440 (GRCm39)	L1106S	probably damaging	Het
Dnah3	A	G	7: 119,550,375 (GRCm39)	Y3315H	probably benign	Het
Dnah7b	G	A	1: 46,214,456 (GRCm39)	V1074I	possibly damaging	Het
Efemp1	A	G	11: 28,860,691 (GRCm39)	Q200R	probably benign	Het
Eif1ad3	A	T	12: 87,843,764 (GRCm39)	D137V	unknown	Het
Epx	C	T	11: 87,763,557 (GRCm39)	R221Q	possibly damaging	Het
Exosc7	T	C	9: 122,956,942 (GRCm39)	L109P	probably damaging	Het
Fbxo22	T	A	9: 55,128,344 (GRCm39)	F222I	probably damaging	Het
Fcgbp	A	G	7: 27,785,769 (GRCm39)	D402G	probably benign	Het
Foxr1	A	G	9: 44,347,351 (GRCm39)	V62A	probably damaging	Het
Gm8267	A	T	14: 44,961,515 (GRCm39)	H59Q	probably damaging	Het
Gnptab	T	A	10: 88,275,071 (GRCm39)	Y1090N	probably damaging	Het
Gpr20	A	G	15: 73,568,161 (GRCm39)	F76S	probably damaging	Het
Gpr33	A	G	12: 52,070,907 (GRCm39)	V44A	probably benign	Het
Grin3a	G	A	4: 49,665,599 (GRCm39)	T1012I	probably benign	Het
Itga1	T	A	13: 115,103,120 (GRCm39)	T1104S	probably benign	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Lama1	A	G	17: 68,057,515 (GRCm39)	T530A		Het
Lysmd2	A	T	9: 75,533,040 (GRCm39)		probably benign	Het
Mdk	T	C	2: 91,761,178 (GRCm39)	K128E	unknown	Het
Mphosph8	AC	A	14: 56,916,062 (GRCm39)		probably null	Het
Muc16	A	C	9: 18,436,443 (GRCm39)	L7915W	possibly damaging	Het
Muc4	A	T	16: 32,753,423 (GRCm38)	T1100S	probably benign	Het
Mxra7	T	C	11: 116,695,376 (GRCm39)	Y176C	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Myo18b	A	G	5: 113,023,045 (GRCm39)	S116P	unknown	Het
Noc3l	A	G	19: 38,784,254 (GRCm39)	L543P	probably damaging	Het
Or5h24	C	T	16: 58,919,004 (GRCm39)	G117D	unknown	Het
Or7a39	C	T	10: 78,715,170 (GRCm39)	P55S	probably benign	Het
Or8c10	T	A	9: 38,279,346 (GRCm39)	V168E	probably damaging	Het
Pkm	G	T	9: 59,575,902 (GRCm39)	R106L	probably benign	Het
Prkab2	G	T	3: 97,570,911 (GRCm39)	V112F	probably benign	Het
Prkaca	A	T	8: 84,717,151 (GRCm39)	N172Y	probably damaging	Het
Prmt8	A	G	6: 127,666,813 (GRCm39)	V387A	probably benign	Het
Rad17	T	C	13: 100,761,074 (GRCm39)	T485A	probably benign	Het
Rita1	G	T	5: 120,747,716 (GRCm39)	T194K	possibly damaging	Het
Rogdi	C	A	16: 4,831,313 (GRCm39)		probably benign	Het
Senp5	T	C	16: 31,808,117 (GRCm39)	D379G	probably benign	Het
Slc4a4	A	G	5: 89,194,122 (GRCm39)	K201E	possibly damaging	Het
Slc9a4	C	T	1: 40,619,520 (GRCm39)		probably benign	Het
Tmem175	T	A	5: 108,791,075 (GRCm39)	S208R	probably benign	Het
Tnrc6a	T	A	7: 122,769,936 (GRCm39)	N575K	possibly damaging	Het
Trak2	A	T	1: 58,960,306 (GRCm39)	C232*	probably null	Het
Ubr3	A	G	2: 69,775,478 (GRCm39)	H589R	probably damaging	Het
Vcp	T	C	4: 42,988,728 (GRCm39)	T249A	possibly damaging	Het
Vmn1r208	G	C	13: 22,956,947 (GRCm39)	I183M	probably benign	Het
Vmn1r231	C	T	17: 21,110,289 (GRCm39)	V209I	probably benign	Het
Vmn1r80	T	C	7: 11,926,994 (GRCm39)	F35L	probably benign	Het
Vmn2r58	A	T	7: 41,521,952 (GRCm39)	I48N	probably benign	Het
Vstm2a	T	A	11: 16,231,898 (GRCm39)	V231E	probably damaging	Het
Zfp108	A	C	7: 23,960,087 (GRCm39)	Y226S	possibly damaging	Het
Zfp445	A	T	9: 122,682,695 (GRCm39)	N415K	possibly damaging	Het
Zfp938	T	G	10: 82,061,422 (GRCm39)	R399S	possibly damaging	Het
Zmym4	G	A	4: 126,804,762 (GRCm39)	H464Y	probably benign	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
R4290:Tmem237	UTSW	1	59,158,995 (GRCm39)	unclassified	probably benign
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
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'- CACAATGTACTTCCCTCGGTG -3'
(R):5'- AAACTCTTCTGTGCAGGATGG -3'

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

Posted On

2020-07-28