Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00569:Tmem67'

6712

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 #

IGL00569

Quality Score

Status

Chromosome

Chromosomal Location

12039355-12090020 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12061826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 549 (I549L)

Ref Sequence

ENSEMBL: ENSMUSP00000103928 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050686
AA Change: I483L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: I483L

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: I549L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: I549L

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	G	11: 110,077,875 (GRCm39)	N1311H	possibly damaging	Het
Adrm1b	T	C	3: 92,335,707 (GRCm39)	T332A	probably benign	Het
Apol8	C	T	15: 77,634,255 (GRCm39)	R107H	probably benign	Het
Cacna1a	T	A	8: 85,189,343 (GRCm39)	I98N	probably damaging	Het
Clps	T	A	17: 28,779,636 (GRCm39)		probably benign	Het
Dcc	T	A	18: 71,517,296 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,562,729 (GRCm39)	F544L	probably damaging	Het
Eif2ak2	A	T	17: 79,176,912 (GRCm39)	S218T	probably benign	Het
Faf1	T	C	4: 109,819,077 (GRCm39)	*650Q	probably null	Het
Fxn	A	T	19: 24,244,714 (GRCm39)	I142N	probably damaging	Het
Gm10610	A	T	7: 83,198,778 (GRCm39)		noncoding transcript	Het
Hspa1l	C	T	17: 35,196,441 (GRCm39)	T160I	probably damaging	Het
Kcng4	A	G	8: 120,353,070 (GRCm39)	V280A	probably benign	Het
Khsrp	T	C	17: 57,330,092 (GRCm39)	T646A	possibly damaging	Het
Lilra6	A	G	7: 3,917,588 (GRCm39)	S136P	probably damaging	Het
Lmo7	T	G	14: 102,124,487 (GRCm39)	N315K	probably damaging	Het
Map3k5	A	G	10: 19,810,790 (GRCm39)	T147A	possibly damaging	Het
Mical3	T	C	6: 120,938,585 (GRCm39)	E1134G	possibly damaging	Het
Nek3	A	G	8: 22,648,722 (GRCm39)	L103P	probably damaging	Het
Nudt17	G	T	3: 96,614,343 (GRCm39)	P222Q	probably damaging	Het
Pla2r1	G	T	2: 60,250,769 (GRCm39)	T1386K	probably benign	Het
Ptpn13	A	G	5: 103,738,872 (GRCm39)		probably benign	Het
Rgl1	A	C	1: 152,447,368 (GRCm39)	S134A	probably benign	Het
Rnls	T	A	19: 33,145,888 (GRCm39)	E195V	probably benign	Het
Sall4	T	C	2: 168,597,232 (GRCm39)	N536S	probably benign	Het
Serinc3	G	T	2: 163,469,921 (GRCm39)	P309Q	probably damaging	Het
Smc5	G	A	19: 23,213,329 (GRCm39)	R528C	probably damaging	Het
Stxbp3-ps	A	T	19: 9,535,186 (GRCm39)		noncoding transcript	Het
Trank1	C	A	9: 111,174,579 (GRCm39)	H269N	possibly damaging	Het
Wdr87-ps	A	T	7: 29,233,565 (GRCm39)		noncoding transcript	Het

Other mutations in Tmem67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20