Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Tmem67'

188398

Institutional Source

Beutler Lab

Gene Symbol

Tmem67

Ensembl Gene

ENSMUSG00000049488

Gene Name

transmembrane protein 67

Synonyms

b2b1291.1Clo, 5330408M12Rik, b2b1163.1Clo

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12039355-12090020 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12087840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 102 (V102A)

Ref Sequence

ENSEMBL: ENSMUSP00000103928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050686] [ENSMUST00000063839] [ENSMUST00000095143] [ENSMUST00000108293]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050686
AA Change: V36A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: V36A

Domain	Start	End	E-Value	Type
low complexity region	17	23	N/A	INTRINSIC
Pfam:Meckelin	166	995	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063839

SMART Domains

Protein: ENSMUSP00000066311
Gene: ENSMUSG00000052137

Domain	Start	End	E-Value	Type
RRM	4	72	2.1e-1	SMART
low complexity region	115	125	N/A	INTRINSIC
RRM	155	225	5.59e-4	SMART
RRM	284	355	4.87e-4	SMART
RRM	402	474	2.28e-9	SMART
RRM	759	832	7.49e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095143

SMART Domains

Protein: ENSMUSP00000092765
Gene: ENSMUSG00000052137

Domain	Start	End	E-Value	Type
RRM	4	72	2.1e-1	SMART
low complexity region	115	125	N/A	INTRINSIC
RRM	155	225	5.59e-4	SMART
RRM	284	355	4.87e-4	SMART
RRM	402	474	2.28e-9	SMART
RRM	759	832	7.49e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108293
AA Change: V102A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: V102A

Domain	Start	End	E-Value	Type
low complexity region	83	89	N/A	INTRINSIC
Pfam:Meckelin	236	1061	N/A	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000131145
AA Change: V33A

SMART Domains

Protein: ENSMUSP00000115154
Gene: ENSMUSG00000049488
AA Change: V33A

Domain	Start	End	E-Value	Type
low complexity region	15	21	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151859

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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 localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit neonatal/postanal lethality, kidney cysts, and Meckel-Gruber or Joubert syndrome-like phenotypes depending on the filial generation of the backcross to C57BL/6J. Mice homozygous for an ENU-induced allele exhibit cardiovascular defects and cystic kidney. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668		probably null	Het
Csmd3	G	A	15: 47,741,170	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162		probably null	Het
Ireb2	C	T	9: 54,881,518	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750		probably null	Het
Plxnc1	A	C	10: 94,841,551	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc5a6	A	G	5: 31,042,644	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605	F458I	probably damaging	Het
Tomm70a	T	C	16: 57,121,961	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669	R361*	probably null	Het
Vcan	T	C	13: 89,703,547	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423	R6K	probably benign	Het
Zan	T	A	5: 137,403,050	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880	N433K	probably benign	Het

Other mutations in Tmem67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Tmem67	APN	4	12061826	missense	probably damaging	0.98
IGL00768:Tmem67	APN	4	12055029	critical splice donor site	probably null
IGL00813:Tmem67	APN	4	12058587	splice site	probably benign
IGL01070:Tmem67	APN	4	12054750	missense	probably benign	0.20
IGL01088:Tmem67	APN	4	12063126	missense	probably damaging	1.00
IGL01353:Tmem67	APN	4	12079895	missense	probably damaging	1.00
IGL01490:Tmem67	APN	4	12057422	splice site	probably benign
IGL01885:Tmem67	APN	4	12057389	missense	probably damaging	1.00
IGL02061:Tmem67	APN	4	12053526	missense	probably damaging	1.00
IGL02151:Tmem67	APN	4	12068882	missense	probably benign	0.35
IGL02166:Tmem67	APN	4	12047313	missense	possibly damaging	0.90
IGL02243:Tmem67	APN	4	12070584	missense	possibly damaging	0.93
IGL02517:Tmem67	APN	4	12069463	missense	possibly damaging	0.67
IGL02736:Tmem67	APN	4	12045789	splice site	probably null
R0282:Tmem67	UTSW	4	12087930	missense	probably damaging	0.99
R0514:Tmem67	UTSW	4	12089317	missense	probably benign
R1221:Tmem67	UTSW	4	12045871	missense	possibly damaging	0.92
R1301:Tmem67	UTSW	4	12089400	unclassified	probably benign
R1581:Tmem67	UTSW	4	12047814	missense	probably damaging	1.00
R1804:Tmem67	UTSW	4	12045789	splice site	probably null
R2174:Tmem67	UTSW	4	12063730	nonsense	probably null
R2191:Tmem67	UTSW	4	12069413	critical splice donor site	probably null
R2246:Tmem67	UTSW	4	12040651	missense	probably damaging	1.00
R2566:Tmem67	UTSW	4	12079918	missense	probably damaging	0.99
R3409:Tmem67	UTSW	4	12073952	missense	probably benign	0.00
R3410:Tmem67	UTSW	4	12073952	missense	probably benign	0.00
R4078:Tmem67	UTSW	4	12040633	critical splice donor site	probably null
R4282:Tmem67	UTSW	4	12073922	missense	probably damaging	0.99
R4429:Tmem67	UTSW	4	12051473	missense	possibly damaging	0.52
R4430:Tmem67	UTSW	4	12051473	missense	possibly damaging	0.52
R4431:Tmem67	UTSW	4	12051473	missense	possibly damaging	0.52
R4734:Tmem67	UTSW	4	12063158	missense	probably benign	0.00
R4856:Tmem67	UTSW	4	12089416	unclassified	probably benign
R4865:Tmem67	UTSW	4	12070262	missense	probably benign	0.01
R5056:Tmem67	UTSW	4	12070471	missense	probably benign	0.29
R5575:Tmem67	UTSW	4	12047886	missense	possibly damaging	0.93
R5614:Tmem67	UTSW	4	12061755	missense	possibly damaging	0.54
R6030:Tmem67	UTSW	4	12063799	missense	probably benign	0.01
R6030:Tmem67	UTSW	4	12063799	missense	probably benign	0.01
R6182:Tmem67	UTSW	4	12051402	missense	probably benign	0.05
R6562:Tmem67	UTSW	4	12053445	critical splice donor site	probably null
R6574:Tmem67	UTSW	4	12063086	missense	possibly damaging	0.70
R6696:Tmem67	UTSW	4	12061754	critical splice donor site	probably null
R6824:Tmem67	UTSW	4	12051449	missense	probably damaging	1.00
R7028:Tmem67	UTSW	4	12075484	missense	probably benign	0.12
R7174:Tmem67	UTSW	4	12077337	missense	possibly damaging	0.82
R7369:Tmem67	UTSW	4	12053535	missense	probably damaging	1.00
R7638:Tmem67	UTSW	4	12079883	missense	probably benign	0.17
R7671:Tmem67	UTSW	4	12063698	missense	probably benign	0.00
R7736:Tmem67	UTSW	4	12053455	missense	probably benign	0.09
R7920:Tmem67	UTSW	4	12089284	critical splice donor site	probably null
R7981:Tmem67	UTSW	4	12070592	missense	probably damaging	1.00
R8005:Tmem67	UTSW	4	12047821	missense	probably damaging	1.00
R8086:Tmem67	UTSW	4	12040738	missense	probably damaging	1.00
R8196:Tmem67	UTSW	4	12075661	missense	probably benign	0.00
R8344:Tmem67	UTSW	4	12058576	missense	probably benign	0.00
R8350:Tmem67	UTSW	4	12087891	missense	probably benign	0.07
R8450:Tmem67	UTSW	4	12087891	missense	probably benign	0.07
R8899:Tmem67	UTSW	4	12055038	missense	probably damaging	0.99
R8992:Tmem67	UTSW	4	12058559	missense	probably damaging	1.00
R9281:Tmem67	UTSW	4	12079962	missense	possibly damaging	0.90
R9335:Tmem67	UTSW	4	12040640	nonsense	probably null
R9539:Tmem67	UTSW	4	12045814	missense	probably damaging	1.00
R9539:Tmem67	UTSW	4	12045815	missense	probably damaging	1.00
Z1176:Tmem67	UTSW	4	12087983	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATTGTGTCAGCCGTATCCTCCCAG -3'
(R):5'- TTGTCCAATCAGCTCAGCGGACTC -3'

Sequencing Primer
(F):5'- CTCCAAATAAAATGTCTGGAGTGCTG -3'
(R):5'- ACTCACCGAGGAGGCTG -3'

Posted On

2014-05-09