Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Tmem67'

590045

Institutional Source

Beutler Lab

Gene Symbol

Tmem67

Ensembl Gene

ENSMUSG00000049488

Gene Name

transmembrane protein 67

Synonyms

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

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12039355-12090020 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12079883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 136 (H136L)

Ref Sequence

ENSEMBL: ENSMUSP00000052644 (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: H136L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: H136L

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: H202L

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: H202L

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115154
Gene: ENSMUSG00000049488
AA Change: H133L

Domain	Start	End	E-Value	Type
low complexity region	15	21	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,917	V161A	probably damaging	Het
Abo	T	G	2: 26,843,843	T115P	probably damaging	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Amdhd1	A	T	10: 93,534,498	Y159*	probably null	Het
BC027072	T	C	17: 71,750,885	D599G	probably damaging	Het
C77080	T	C	4: 129,221,941	T1022A	probably benign	Het
Camp	T	C	9: 109,848,393	E124G		Het
Casq2	A	G	3: 102,086,700	E21G	possibly damaging	Het
Cbln1	A	T	8: 87,471,729	F116Y	probably damaging	Het
Cklf	A	T	8: 104,263,364	K143*	probably null	Het
Clca3a1	A	G	3: 144,751,962	I387T	probably damaging	Het
Cndp1	T	A	18: 84,636,049	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,327,473	M317K	possibly damaging	Het
D13Ertd608e	A	T	13: 119,842,688		probably null	Het
Dmxl2	A	T	9: 54,457,794	I138K	unknown	Het
Eapp	A	G	12: 54,673,723	S236P	probably benign	Het
Efnb3	T	C	11: 69,557,220	H132R	possibly damaging	Het
Fbn2	A	T	18: 58,105,136	N596K	probably damaging	Het
Fzd9	A	G	5: 135,250,630	W134R	probably damaging	Het
Gga2	A	G	7: 122,003,934	S180P	probably damaging	Het
Gm11639	T	A	11: 105,036,799	M4798K	probably benign	Het
Gm30302	G	T	13: 49,786,975	Q420K	probably benign	Het
Golga3	A	G	5: 110,205,828	T911A	probably benign	Het
Gstm1	C	T	3: 108,014,550		probably null	Het
Heg1	A	G	16: 33,727,497	T909A	probably damaging	Het
Herc2	C	T	7: 56,220,525	R4349W	probably damaging	Het
Herc2	T	C	7: 56,157,438	S2455P	probably benign	Het
Hivep2	T	G	10: 14,143,851	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,657,391		probably null	Het
Kbtbd13	G	T	9: 65,391,323	C110*	probably null	Het
Krt78	T	C	15: 101,950,883	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,398,169	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,477,008		probably null	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lrrc71	C	A	3: 87,741,806	G352W	probably damaging	Het
Map3k9	A	G	12: 81,724,732	V694A	probably benign	Het
Mboat2	T	C	12: 24,939,326	S162P	probably damaging	Het
Megf11	C	A	9: 64,679,253	N422K	probably damaging	Het
Miga1	C	T	3: 152,276,687	S584N	probably benign	Het
Mindy2	A	G	9: 70,616,859	Y403H	probably damaging	Het
Mmd	C	T	11: 90,276,757	A204V	possibly damaging	Het
Mta3	A	T	17: 83,800,143	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,722,798	S43F	probably benign	Het
Nphp4	T	C	4: 152,554,534	V874A	probably benign	Het
Nsd1	A	G	13: 55,312,328	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,314,796	H302R	probably benign	Het
Odc1	A	G	12: 17,550,002	Y389C	probably damaging	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr551	A	G	7: 102,587,918	I275T	probably damaging	Het
Olfr970	T	G	9: 39,819,893	F85V	probably damaging	Het
Pcdhb10	A	C	18: 37,412,312	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,317,828	C182G	probably damaging	Het
Pigv	T	C	4: 133,665,451	D136G	possibly damaging	Het
Pramel5	T	C	4: 144,271,440	E411G	possibly damaging	Het
Prkce	T	C	17: 86,168,600	V3A	probably benign	Het
Pth1r	T	C	9: 110,722,393	N546S	probably benign	Het
Qrich2	C	T	11: 116,455,322	V1559I	probably benign	Het
Rbm20	A	C	19: 53,814,333	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,150,848	D393N	probably damaging	Het
Sf3b3	G	A	8: 110,820,813	R728C	probably damaging	Het
Srcap	A	G	7: 127,538,748	N1090S	probably benign	Het
Syt4	A	T	18: 31,443,822	S160T	probably benign	Het
Tfap2e	C	T	4: 126,721,934	V236M	probably damaging	Het
Thsd4	G	A	9: 60,394,472	T180M	probably damaging	Het
Tlr4	T	A	4: 66,840,206	M412K	probably damaging	Het
Tnpo2	T	A	8: 85,044,415	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,033,413	M111V	probably benign	Het
Tubb3	A	T	8: 123,421,161	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,418,499	S334P	probably damaging	Het
Vps13c	A	G	9: 67,945,509	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,455,910	Y125H	probably benign	Het
Zfp747	A	T	7: 127,374,647	M117K	probably benign	Het
Znrd1	A	C	17: 36,957,830		probably null	Het
Zscan4c	A	T	7: 11,009,731	N419I	possibly 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
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
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'- ACCTGAGTCTAACAGTTTCTATCC -3'
(R):5'- TGGCATGTAATAAACCCACTTGG -3'

Sequencing Primer
(F):5'- CAAGTATTGACAGTAACAGACATGC -3'
(R):5'- TAAAGATGGCTGGGACTG -3'

Posted On

2019-10-24