Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02061:Tmem67'

185406

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem67

Ensembl Gene

ENSMUSG00000049488

Gene Name

transmembrane protein 67

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02061

Quality Score

Status

Chromosome

Chromosomal Location

12039355-12090020 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12053526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 740 (A740V)

Ref Sequence

ENSEMBL: ENSMUSP00000103928 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050686
AA Change: A674V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: A674V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108293
AA Change: A740V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: A740V

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

Coding Region Coverage

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	T	A	13: 113,931,193 (GRCm39)	D3E	probably benign	Het
Atp4a	A	G	7: 30,414,454 (GRCm39)	Y159C	probably damaging	Het
Card10	A	G	15: 78,662,415 (GRCm39)	F861S	probably damaging	Het
Ccdc85c	A	G	12: 108,188,002 (GRCm39)	V279A	probably damaging	Het
Cndp1	G	A	18: 84,652,751 (GRCm39)	R136W	probably damaging	Het
Eif2b3	A	G	4: 116,885,608 (GRCm39)	E50G	possibly damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Eva1c	C	T	16: 90,663,163 (GRCm39)	Q67*	probably null	Het
Exoc1	A	G	5: 76,689,967 (GRCm39)	E169G	probably damaging	Het
Fsd2	T	A	7: 81,190,172 (GRCm39)	K537*	probably null	Het
Gbf1	T	G	19: 46,267,697 (GRCm39)	S1236A	possibly damaging	Het
Gpt	C	A	15: 76,583,617 (GRCm39)		probably benign	Het
Gsap	A	G	5: 21,486,609 (GRCm39)		probably benign	Het
Hdac6	A	C	X: 7,809,878 (GRCm39)		probably null	Het
Ivns1abp	T	A	1: 151,227,324 (GRCm39)	L44Q	probably damaging	Het
Kcnt1	T	A	2: 25,790,494 (GRCm39)		probably null	Het
Kdm2b	A	G	5: 123,021,404 (GRCm39)	I58T	probably damaging	Het
Mrpl23	C	T	7: 142,094,319 (GRCm39)	P76S	probably benign	Het
Nbea	A	G	3: 55,625,308 (GRCm39)	I2261T	possibly damaging	Het
Oasl1	G	A	5: 115,061,651 (GRCm39)	V61M	probably damaging	Het
Or4g7	T	A	2: 111,309,614 (GRCm39)	F162I	possibly damaging	Het
Pabpc2	A	G	18: 39,908,046 (GRCm39)	Q437R	probably benign	Het
Ppp1r26	T	A	2: 28,340,639 (GRCm39)	C90S	possibly damaging	Het
Ppp3ca	A	G	3: 136,503,624 (GRCm39)	T66A	probably benign	Het
Prss55	A	G	14: 64,313,192 (GRCm39)	Y231H	possibly damaging	Het
Psmb10	T	C	8: 106,664,343 (GRCm39)	T38A	probably damaging	Het
Rfx5	A	G	3: 94,865,792 (GRCm39)	T364A	probably benign	Het
Scgb2b26	T	C	7: 33,642,610 (GRCm39)	N107S	probably benign	Het
Seh1l	A	G	18: 67,920,328 (GRCm39)		probably benign	Het
Skic3	T	A	13: 76,277,660 (GRCm39)		probably null	Het
Sod1	T	A	16: 90,022,126 (GRCm39)	H111Q	probably benign	Het
Thbs2	A	T	17: 14,900,176 (GRCm39)	D592E	probably benign	Het
Tra2a	A	G	6: 49,226,032 (GRCm39)	V136A	possibly damaging	Het
Utp18	T	C	11: 93,772,967 (GRCm39)	D158G	probably benign	Het
Zfp524	A	G	7: 5,020,871 (GRCm39)	E133G	probably damaging	Het

Other mutations in Tmem67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Tmem67	APN	4	12,061,826 (GRCm39)	missense	probably damaging	0.98
IGL00768:Tmem67	APN	4	12,055,029 (GRCm39)	critical splice donor site	probably null
IGL00813:Tmem67	APN	4	12,058,587 (GRCm39)	splice site	probably benign
IGL01070:Tmem67	APN	4	12,054,750 (GRCm39)	missense	probably benign	0.20
IGL01088:Tmem67	APN	4	12,063,126 (GRCm39)	missense	probably damaging	1.00
IGL01353:Tmem67	APN	4	12,079,895 (GRCm39)	missense	probably damaging	1.00
IGL01490:Tmem67	APN	4	12,057,422 (GRCm39)	splice site	probably benign
IGL01885:Tmem67	APN	4	12,057,389 (GRCm39)	missense	probably damaging	1.00
IGL02151:Tmem67	APN	4	12,068,882 (GRCm39)	missense	probably benign	0.35
IGL02166:Tmem67	APN	4	12,047,313 (GRCm39)	missense	possibly damaging	0.90
IGL02243:Tmem67	APN	4	12,070,584 (GRCm39)	missense	possibly damaging	0.93
IGL02517:Tmem67	APN	4	12,069,463 (GRCm39)	missense	possibly damaging	0.67
IGL02736:Tmem67	APN	4	12,045,789 (GRCm39)	splice site	probably null
R0282:Tmem67	UTSW	4	12,087,930 (GRCm39)	missense	probably damaging	0.99
R0514:Tmem67	UTSW	4	12,089,317 (GRCm39)	missense	probably benign
R1221:Tmem67	UTSW	4	12,045,871 (GRCm39)	missense	possibly damaging	0.92
R1301:Tmem67	UTSW	4	12,089,400 (GRCm39)	unclassified	probably benign
R1581:Tmem67	UTSW	4	12,047,814 (GRCm39)	missense	probably damaging	1.00
R1680:Tmem67	UTSW	4	12,087,840 (GRCm39)	missense	probably benign	0.00
R1804:Tmem67	UTSW	4	12,045,789 (GRCm39)	splice site	probably null
R2174:Tmem67	UTSW	4	12,063,730 (GRCm39)	nonsense	probably null
R2191:Tmem67	UTSW	4	12,069,413 (GRCm39)	critical splice donor site	probably null
R2246:Tmem67	UTSW	4	12,040,651 (GRCm39)	missense	probably damaging	1.00
R2566:Tmem67	UTSW	4	12,079,918 (GRCm39)	missense	probably damaging	0.99
R3409:Tmem67	UTSW	4	12,073,952 (GRCm39)	missense	probably benign	0.00
R3410:Tmem67	UTSW	4	12,073,952 (GRCm39)	missense	probably benign	0.00
R4078:Tmem67	UTSW	4	12,040,633 (GRCm39)	critical splice donor site	probably null
R4282:Tmem67	UTSW	4	12,073,922 (GRCm39)	missense	probably damaging	0.99
R4429:Tmem67	UTSW	4	12,051,473 (GRCm39)	missense	possibly damaging	0.52
R4430:Tmem67	UTSW	4	12,051,473 (GRCm39)	missense	possibly damaging	0.52
R4431:Tmem67	UTSW	4	12,051,473 (GRCm39)	missense	possibly damaging	0.52
R4734:Tmem67	UTSW	4	12,063,158 (GRCm39)	missense	probably benign	0.00
R4856:Tmem67	UTSW	4	12,089,416 (GRCm39)	unclassified	probably benign
R4865:Tmem67	UTSW	4	12,070,262 (GRCm39)	missense	probably benign	0.01
R5056:Tmem67	UTSW	4	12,070,471 (GRCm39)	missense	probably benign	0.29
R5575:Tmem67	UTSW	4	12,047,886 (GRCm39)	missense	possibly damaging	0.93
R5614:Tmem67	UTSW	4	12,061,755 (GRCm39)	missense	possibly damaging	0.54
R6030:Tmem67	UTSW	4	12,063,799 (GRCm39)	missense	probably benign	0.01
R6030:Tmem67	UTSW	4	12,063,799 (GRCm39)	missense	probably benign	0.01
R6182:Tmem67	UTSW	4	12,051,402 (GRCm39)	missense	probably benign	0.05
R6562:Tmem67	UTSW	4	12,053,445 (GRCm39)	critical splice donor site	probably null
R6574:Tmem67	UTSW	4	12,063,086 (GRCm39)	missense	possibly damaging	0.70
R6696:Tmem67	UTSW	4	12,061,754 (GRCm39)	critical splice donor site	probably null
R6824:Tmem67	UTSW	4	12,051,449 (GRCm39)	missense	probably damaging	1.00
R7028:Tmem67	UTSW	4	12,075,484 (GRCm39)	missense	probably benign	0.12
R7174:Tmem67	UTSW	4	12,077,337 (GRCm39)	missense	possibly damaging	0.82
R7369:Tmem67	UTSW	4	12,053,535 (GRCm39)	missense	probably damaging	1.00
R7638:Tmem67	UTSW	4	12,079,883 (GRCm39)	missense	probably benign	0.17
R7671:Tmem67	UTSW	4	12,063,698 (GRCm39)	missense	probably benign	0.00
R7736:Tmem67	UTSW	4	12,053,455 (GRCm39)	missense	probably benign	0.09
R7920:Tmem67	UTSW	4	12,089,284 (GRCm39)	critical splice donor site	probably null
R7981:Tmem67	UTSW	4	12,070,592 (GRCm39)	missense	probably damaging	1.00
R8005:Tmem67	UTSW	4	12,047,821 (GRCm39)	missense	probably damaging	1.00
R8086:Tmem67	UTSW	4	12,040,738 (GRCm39)	missense	probably damaging	1.00
R8196:Tmem67	UTSW	4	12,075,661 (GRCm39)	missense	probably benign	0.00
R8344:Tmem67	UTSW	4	12,058,576 (GRCm39)	missense	probably benign	0.00
R8350:Tmem67	UTSW	4	12,087,891 (GRCm39)	missense	probably benign	0.07
R8450:Tmem67	UTSW	4	12,087,891 (GRCm39)	missense	probably benign	0.07
R8899:Tmem67	UTSW	4	12,055,038 (GRCm39)	missense	probably damaging	0.99
R8992:Tmem67	UTSW	4	12,058,559 (GRCm39)	missense	probably damaging	1.00
R9281:Tmem67	UTSW	4	12,079,962 (GRCm39)	missense	possibly damaging	0.90
R9335:Tmem67	UTSW	4	12,040,640 (GRCm39)	nonsense	probably null
R9539:Tmem67	UTSW	4	12,045,815 (GRCm39)	missense	probably damaging	1.00
R9539:Tmem67	UTSW	4	12,045,814 (GRCm39)	missense	probably damaging	1.00
Z1176:Tmem67	UTSW	4	12,087,983 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07