Mutagenetix > Incidental Mutation

Incidental Mutation 'R4865:Tmem67'

374812

Institutional Source

Beutler Lab

Gene Symbol

Tmem67

Ensembl Gene

ENSMUSG00000049488

Gene Name

transmembrane protein 67

Synonyms

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

MMRRC Submission

042475-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12039355-12090020 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12070262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 387 (N387S)

Ref Sequence

ENSEMBL: ENSMUSP00000103928 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050686
AA Change: N321S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: N321S

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: ENSMUST00000108293
AA Change: N387S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: N387S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131145

SMART Domains

Protein: ENSMUSP00000115154
Gene: ENSMUSG00000049488

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

Meta Mutation Damage Score

0.0599

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

98% (86/88)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,805,086	V639M	probably damaging	Het
Adgrf4	A	G	17: 42,667,265	S396P	probably damaging	Het
Aldh3b2	T	A	19: 3,978,469	I123N	probably damaging	Het
Aldh5a1	A	G	13: 24,911,584	Y517H	probably damaging	Het
Aph1c	A	C	9: 66,827,838	I77S	probably damaging	Het
Armc8	A	G	9: 99,526,889		probably null	Het
Atp13a5	G	A	16: 29,248,160	P1020L	probably damaging	Het
BC024139	A	T	15: 76,126,066	M80K	possibly damaging	Het
Cdk5rap1	C	T	2: 154,370,956		probably null	Het
Cenpn	A	G	8: 116,934,773	I204V	probably damaging	Het
Ces4a	A	T	8: 105,147,158	M420L	probably benign	Het
Chdh	T	A	14: 30,033,724	D322E	probably benign	Het
Clcn6	A	T	4: 148,019,766	I223N	probably damaging	Het
Clec4b1	A	G	6: 123,068,469	K50E	possibly damaging	Het
Creg1	T	A	1: 165,769,863	C135*	probably null	Het
Cyp4f13	C	T	17: 32,925,704	R411Q	probably damaging	Het
Dnah7b	T	C	1: 46,195,074	F1426L	probably damaging	Het
Dock9	A	T	14: 121,543,505	*1917R	probably null	Het
Dync1h1	T	G	12: 110,639,801	L2435R	possibly damaging	Het
Eif3l	C	A	15: 79,081,649	Y166*	probably null	Het
Emilin1	T	A	5: 30,917,784	N456K	possibly damaging	Het
Fam83f	C	T	15: 80,692,449	R434C	probably damaging	Het
Fbxw9	A	G	8: 85,060,156	D10G	possibly damaging	Het
Flt1	C	A	5: 147,683,939	A132S	probably benign	Het
Fsip2	T	G	2: 82,990,951	V5676G	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gm11596	A	G	11: 99,793,238		probably benign	Het
Gm6522	T	C	3: 106,275,970		noncoding transcript	Het
Gm6728	A	G	6: 136,487,074		noncoding transcript	Het
Gria4	T	A	9: 4,464,295	I556F	possibly damaging	Het
Grp	A	T	18: 65,879,970	D69V	probably damaging	Het
Gucy1a1	G	T	3: 82,119,162		probably benign	Het
Haus5	A	T	7: 30,658,555	L376Q	probably damaging	Het
Ifne	A	T	4: 88,879,705	Y159N	probably damaging	Het
Ift80	A	G	3: 68,990,759	V81A	probably benign	Het
Inpp5b	T	C	4: 124,751,495	V192A	probably benign	Het
Kcnh4	A	G	11: 100,749,743	S486P	probably damaging	Het
Kif5b	A	G	18: 6,222,912		probably benign	Het
Macf1	T	A	4: 123,433,303	E4800D	probably damaging	Het
Mblac2	C	T	13: 81,711,976	Q150*	probably null	Het
Mc1r	A	T	8: 123,407,516	T3S	probably benign	Het
Med17	G	A	9: 15,265,372	Q70*	probably null	Het
Myocd	A	T	11: 65,179,030		probably null	Het
Nphp3	T	C	9: 104,031,970	L793P	probably benign	Het
Olfr1020	T	A	2: 85,849,716	M88K	probably damaging	Het
Olfr1240	T	G	2: 89,439,659	T207P	possibly damaging	Het
Olfr1377	A	G	11: 50,985,543	T281A	probably damaging	Het
Olfr1436	T	C	19: 12,298,580	D184G	probably damaging	Het
Olfr165	A	T	16: 19,407,301	F238L	probably damaging	Het
Olfr891	T	A	9: 38,179,900	T308S	possibly damaging	Het
Piezo1	A	T	8: 122,486,921	L1745Q	probably damaging	Het
Prdm10	T	A	9: 31,347,080	H600Q	probably damaging	Het
Psapl1	C	A	5: 36,204,867	L268M	probably damaging	Het
Psg23	T	C	7: 18,612,114	I219V	probably benign	Het
Rexo5	A	T	7: 119,801,330	R113*	probably null	Het
Rgs22	A	T	15: 36,100,212	I243N	probably damaging	Het
Rhbdf1	G	A	11: 32,214,517	T183I	probably damaging	Het
Rhobtb1	T	C	10: 69,270,724	M373T	probably benign	Het
Ros1	G	T	10: 52,172,870	A88E	probably damaging	Het
Sdr16c6	A	G	4: 4,058,834	F251L	probably benign	Het
Skil	A	G	3: 31,113,413	Y398C	probably damaging	Het
Slc22a3	A	T	17: 12,464,532	M148K	probably benign	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Sntn	A	T	14: 13,679,103	K92N	probably benign	Het
Spry4	A	T	18: 38,589,823	S296T	probably benign	Het
St8sia1	A	G	6: 142,829,070	F261S	probably damaging	Het
Stab2	C	T	10: 86,843,500		probably null	Het
Stk24	A	T	14: 121,293,454	C363*	probably null	Het
Tank	G	A	2: 61,578,635		probably benign	Het
Treml1	A	T	17: 48,366,857	I304L	probably benign	Het
Trim13	A	G	14: 61,605,517	I328V	probably benign	Het
Upk2	A	G	9: 44,454,085	V62A	probably damaging	Het
Urb2	A	T	8: 124,029,635	K694*	probably null	Het
Vmn2r17	C	A	5: 109,427,119	N97K	probably damaging	Het
Vmn2r57	A	T	7: 41,400,468	V619D	probably damaging	Het
Vmn2r92	G	A	17: 18,167,372	R213Q	probably benign	Het
Wnt6	G	A	1: 74,782,629	C123Y	probably damaging	Het
Zfp292	A	G	4: 34,819,563	I253T	probably damaging	Het
Zfp52	C	T	17: 21,561,243	S451L	probably damaging	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
R1680:Tmem67	UTSW	4	12087840	missense	probably benign	0.00
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
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'- AAGTGTGACTAGTGACTGTGTC -3'
(R):5'- CCATTCTGGTGAGGAAATTTGGATG -3'

Sequencing Primer
(F):5'- ccatctccagGCATAGTT -3'
(R):5'- TGGATGTGTTAAATACTCCAGTGG -3'

Posted On

2016-03-17