Mutagenetix > Incidental Mutation

Incidental Mutation 'R4430:Tmem67'

328553

Institutional Source

Beutler Lab

Gene Symbol

Tmem67

Ensembl Gene

ENSMUSG00000049488

Gene Name

transmembrane protein 67

Synonyms

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

MMRRC Submission

041700-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12039355-12090020 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12051473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 785 (N785I)

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: N719I

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: N719I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108293
AA Change: N785I

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: N785I

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

Meta Mutation Damage Score

0.3978

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Aak1	A	G	6: 86,986,366	N926S	unknown	Het
Ahi1	T	A	10: 20,972,078	C462S	probably damaging	Het
Ahnak	A	G	19: 9,003,040	I563V	probably benign	Het
Ankrd55	G	A	13: 112,323,183		probably null	Het
Bag3	A	G	7: 128,523,923	D22G	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,158,845	I166T	probably benign	Het
Dnah11	T	C	12: 117,983,011	I3113V	probably benign	Het
Gli2	T	C	1: 118,837,244	H1059R	probably benign	Het
Gm14412	C	A	2: 177,315,832	S90I	probably benign	Het
L1td1	A	G	4: 98,737,151	R528G	probably benign	Het
Mcm3	A	T	1: 20,811,993	L449*	probably null	Het
Mif4gd	T	C	11: 115,608,502	T185A	probably benign	Het
Mphosph9	T	C	5: 124,265,446	S840G	possibly damaging	Het
Nim1k	C	A	13: 119,712,542	R272L	possibly damaging	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1457	C	T	19: 13,095,088	V187I	probably benign	Het
Olfr806	T	A	10: 129,738,261	I219F	probably damaging	Het
Pax3	A	G	1: 78,195,324	V83A	probably damaging	Het
Pde3b	C	T	7: 114,534,670	P974S	probably damaging	Het
Pdzd3	C	T	9: 44,249,744	S175N	probably benign	Het
Pglyrp3	T	A	3: 92,031,491	D324E	probably damaging	Het
Pus7	A	G	5: 23,746,489	Y521H	probably benign	Het
Ryr2	A	G	13: 11,735,527	S1953P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
Sox5	A	G	6: 144,041,274	I188T	possibly damaging	Het
Spata4	T	C	8: 54,601,843	I86T	probably benign	Het
Ssc5d	T	C	7: 4,943,664	S1006P	probably benign	Het
Stk10	T	C	11: 32,533,552	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 133,949,223	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem201	A	C	4: 149,731,139	V118G	probably benign	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,254,092	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,870,241	M503K	probably benign	Het
Zfp54	T	G	17: 21,434,960	V572G	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
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'- ATTCGCACATGCCTGGATC -3'
(R):5'- AAGTTTCCTACGGCTCCTAAG -3'

Sequencing Primer
(F):5'- CACAGAGAGCTCTATGACTGCTTTG -3'
(R):5'- TTTTCAAGGCAGGTAGGTA -3'

Posted On

2015-07-21