Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00768:Tmem67'

14504

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 #

IGL00768

Quality Score

Status

Chromosome

Chromosomal Location

12039355-12090020 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 12055029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103928 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000050686

SMART Domains

Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488

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

Predicted Effect

probably null
Transcript: ENSMUST00000108293

SMART Domains

Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	C	T	14: 118,766,409 (GRCm39)	V888I	probably benign	Het
Apob	A	T	12: 8,052,107 (GRCm39)	N1170Y	probably damaging	Het
Clca3a1	T	C	3: 144,461,012 (GRCm39)	D213G	probably damaging	Het
Col6a6	T	C	9: 105,659,611 (GRCm39)	S445G	probably benign	Het
Dgkb	A	C	12: 38,477,478 (GRCm39)	E629D	probably benign	Het
Gabra3	T	C	X: 71,519,903 (GRCm39)	H188R	probably benign	Het
Gak	G	T	5: 108,724,520 (GRCm39)	H1063Q	probably benign	Het
Gm382	C	T	X: 125,968,366 (GRCm39)	Q184*	probably null	Het
Gpr160	T	A	3: 30,950,098 (GRCm39)	Y57N	probably damaging	Het
Gucy1a2	T	C	9: 3,635,111 (GRCm39)	V385A	possibly damaging	Het
Khdc1b	A	T	1: 21,454,405 (GRCm39)	D36V	probably benign	Het
Tmpo	G	A	10: 91,000,068 (GRCm39)		probably benign	Het
Triml1	A	G	8: 43,593,998 (GRCm39)		probably benign	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
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
IGL02061:Tmem67	APN	4	12,053,526 (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

2012-12-06