Mutagenetix > Incidental Mutation

Incidental Mutation 'R9797:Tmem237'

734972

Institutional Source

Beutler Lab

Gene Symbol

Tmem237

Ensembl Gene

ENSMUSG00000038079

Gene Name

transmembrane protein 237

Synonyms

Als2cr4, LOC381259

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9797 (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 C at 59144735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 398 (S398A)

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: S374A

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

SMART Domains

Protein: ENSMUSP00000084745
Gene: ENSMUSG00000038079
AA Change: S374A

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: S384A

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

SMART Domains

Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079
AA Change: S384A

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: S398A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079
AA Change: S398A

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	A	G	5: 26,054,895 (GRCm39)	Y403C	probably benign	Het
Afdn	A	G	17: 14,066,562 (GRCm39)	I600V	probably benign	Het
Akr1b8	G	A	6: 34,333,278 (GRCm39)	E52K	possibly damaging	Het
Alas1	A	G	9: 106,113,842 (GRCm39)	S468P	probably damaging	Het
Atp13a5	T	C	16: 29,133,491 (GRCm39)	T432A	probably benign	Het
B3glct	A	T	5: 149,650,304 (GRCm39)	T136S	probably benign	Het
Bahcc1	A	T	11: 120,159,147 (GRCm39)	R125*	probably null	Het
Brat1	A	G	5: 140,704,273 (GRCm39)	E842G	probably damaging	Het
Cacna1b	A	G	2: 24,508,287 (GRCm39)	L1830S	probably damaging	Het
Cd109	A	G	9: 78,579,217 (GRCm39)	N620D	probably benign	Het
Cdhr1	T	A	14: 36,803,462 (GRCm39)	D538V	probably damaging	Het
Cfap74	G	A	4: 155,514,402 (GRCm39)	C546Y		Het
Colq	T	A	14: 31,250,777 (GRCm39)	R343*	probably null	Het
Dmxl2	T	C	9: 54,358,187 (GRCm39)	K330R	probably benign	Het
Dnah5	A	G	15: 28,233,316 (GRCm39)	K225R	probably benign	Het
Dnase1l3	C	T	14: 7,984,127 (GRCm38)	S95N	probably damaging	Het
Fyco1	C	A	9: 123,626,761 (GRCm39)	A1317S	probably benign	Het
Gm9195	G	A	14: 72,687,705 (GRCm39)	P1944L	probably damaging	Het
Gse1	T	G	8: 121,215,864 (GRCm39)	L4R	probably damaging	Het
Gstm1	T	C	3: 107,925,080 (GRCm39)	I4M	probably benign	Het
Ighv2-3	A	T	12: 113,574,945 (GRCm39)	I70K	possibly damaging	Het
Krt71	C	T	15: 101,645,069 (GRCm39)	R414H	probably damaging	Het
Mcmbp	T	C	7: 128,317,696 (GRCm39)	E183G	possibly damaging	Het
Med13l	T	C	5: 118,880,144 (GRCm39)	S1079P	probably damaging	Het
Megf11	A	G	9: 64,545,591 (GRCm39)	I125V	possibly damaging	Het
Mtmr4	T	A	11: 87,494,962 (GRCm39)	V418E	probably damaging	Het
Mttp	T	C	3: 137,814,725 (GRCm39)	T517A	probably damaging	Het
Mx1	A	G	16: 97,252,893 (GRCm39)	V409A	probably benign	Het
Olfml1	C	A	7: 107,167,069 (GRCm39)	H33N	probably benign	Het
Or13p8	A	C	4: 118,584,079 (GRCm39)	I212L	probably benign	Het
Or4k15b	A	T	14: 50,272,224 (GRCm39)	V212D	probably benign	Het
Or5w19	A	T	2: 87,698,478 (GRCm39)	I48F	possibly damaging	Het
Or6k2	T	C	1: 173,986,417 (GRCm39)	I26T	probably benign	Het
Or6n1	T	A	1: 173,917,356 (GRCm39)	I250N	possibly damaging	Het
Parp12	C	A	6: 39,067,185 (GRCm39)	V536F	probably damaging	Het
Phf11a	T	C	14: 59,514,862 (GRCm39)	E273G	possibly damaging	Het
Pramel27	A	G	4: 143,579,818 (GRCm39)	T468A	possibly damaging	Het
Psd3	A	G	8: 68,210,778 (GRCm39)	Y743H	probably damaging	Het
Rnf213	T	A	11: 119,333,365 (GRCm39)	I2859N		Het
Sec23a	A	T	12: 59,052,060 (GRCm39)	C88*	probably null	Het
Sepsecs	A	G	5: 52,826,239 (GRCm39)		probably null	Het
Slc35e3	G	A	10: 117,572,016 (GRCm39)	T293I	probably benign	Het
Slc49a3	G	T	5: 108,593,403 (GRCm39)	T145N	probably benign	Het
Smu1	A	G	4: 40,739,538 (GRCm39)	I424T	possibly damaging	Het
Spata16	T	A	3: 26,968,925 (GRCm39)	I435N	probably damaging	Het
Tasp1	A	G	2: 139,838,015 (GRCm39)	S156P	probably benign	Het
Ttc39c	T	A	18: 12,828,542 (GRCm39)	L234Q	probably damaging	Het
Ubxn11	C	A	4: 133,851,426 (GRCm39)	T22K	probably benign	Het
Uts2r	C	A	11: 121,051,518 (GRCm39)	S127R	probably damaging	Het
Vmn1r236	A	G	17: 21,506,969 (GRCm39)	D29G	probably benign	Het
Vmn2r87	A	G	10: 130,308,138 (GRCm39)	I700T	probably damaging	Het
Vmn2r87	T	A	10: 130,312,064 (GRCm39)	T517S	probably benign	Het
Vps13b	T	A	15: 35,675,022 (GRCm39)	V1714E	probably damaging	Het
Wrn	T	A	8: 33,758,950 (GRCm39)	I1003L	probably benign	Het
Ylpm1	A	G	12: 85,077,109 (GRCm39)	D1278G	possibly damaging	Het
Zfp1006	T	A	8: 129,946,534 (GRCm39)	H97L	probably benign	Het
Zfp955a	A	C	17: 33,461,888 (GRCm39)	H81Q	possibly damaging	Het
Zfyve26	T	C	12: 79,293,006 (GRCm39)	T2048A	probably damaging	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
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
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'- AGGCTCTGACTCTCTTAAGTCC -3'
(R):5'- AACTCTGCAGATGTGTGCTTG -3'

Sequencing Primer
(F):5'- AAGTCCTCCCTATTTCTTCTGAGAC -3'
(R):5'- CACACTTGGTATTTCTCTAGGAGAG -3'

Posted On

2022-11-14