Incidental Mutation 'R5614:Tmem67'
| ID |
438129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem67
|
| Ensembl Gene |
ENSMUSG00000049488 |
| Gene Name |
transmembrane protein 67 |
| Synonyms |
b2b1291.1Clo, 5330408M12Rik, b2b1163.1Clo |
| MMRRC Submission |
043275-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
12039355-12090020 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 12061755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 572
(K572N)
|
| 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: K506N
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: K506N
| 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: K572N
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: K572N
| 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
|
| Meta Mutation Damage Score |
0.3886 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (62/62) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,046,132 (GRCm39) |
V1712A |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,243,783 (GRCm39) |
S333P |
probably damaging |
Het |
| Arfrp1 |
A |
G |
2: 181,001,236 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,719,493 (GRCm39) |
T21A |
probably benign |
Het |
| Bud23 |
C |
A |
5: 135,087,966 (GRCm39) |
A152S |
probably benign |
Het |
| Cant1 |
T |
C |
11: 118,299,569 (GRCm39) |
D260G |
probably benign |
Het |
| Ces1b |
T |
C |
8: 93,794,836 (GRCm39) |
I254M |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,902,832 (GRCm39) |
T375A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,880,911 (GRCm39) |
L384P |
probably damaging |
Het |
| Chrne |
C |
T |
11: 70,505,879 (GRCm39) |
V469I |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,474,755 (GRCm39) |
E968G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,694,772 (GRCm39) |
|
probably benign |
Het |
| Dtx4 |
T |
C |
19: 12,459,547 (GRCm39) |
Y419C |
probably damaging |
Het |
| Fam171b |
T |
A |
2: 83,643,217 (GRCm39) |
I42N |
probably damaging |
Het |
| Fam43a |
T |
C |
16: 30,420,490 (GRCm39) |
I358T |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,704,154 (GRCm39) |
S1422G |
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,148,981 (GRCm39) |
V157E |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,573,543 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,318,315 (GRCm39) |
V3887F |
probably damaging |
Het |
| Hmgcll1 |
A |
G |
9: 75,988,675 (GRCm39) |
Y182C |
probably damaging |
Het |
| Hook2 |
T |
A |
8: 85,729,137 (GRCm39) |
I585N |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,021,705 (GRCm39) |
T866A |
probably benign |
Het |
| Iqca1l |
G |
A |
5: 24,755,140 (GRCm39) |
A330V |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,783,911 (GRCm39) |
M413K |
probably benign |
Het |
| Myl9 |
G |
A |
2: 156,623,083 (GRCm39) |
|
probably benign |
Het |
| Nelfa |
A |
T |
5: 34,077,844 (GRCm39) |
L179Q |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,390,824 (GRCm39) |
D355V |
probably damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,030 (GRCm39) |
S161R |
probably damaging |
Het |
| Nxpe2 |
A |
T |
9: 48,234,401 (GRCm39) |
F289I |
probably benign |
Het |
| Odf2 |
A |
G |
2: 29,810,879 (GRCm39) |
I538M |
probably damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,398,453 (GRCm39) |
V379E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,143,750 (GRCm39) |
C3859R |
possibly damaging |
Het |
| Rgs1 |
G |
T |
1: 144,121,995 (GRCm39) |
T99N |
probably benign |
Het |
| Rnf6 |
T |
C |
5: 146,154,910 (GRCm39) |
|
probably null |
Het |
| Rtp1 |
C |
A |
16: 23,249,940 (GRCm39) |
Q102K |
possibly damaging |
Het |
| Sec24c |
T |
A |
14: 20,732,806 (GRCm39) |
V123E |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,014 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,636,638 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,250,351 (GRCm39) |
S1809P |
probably damaging |
Het |
| Tgfb2 |
T |
A |
1: 186,357,710 (GRCm39) |
I394F |
probably benign |
Het |
| Thg1l |
T |
C |
11: 45,841,054 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,445,825 (GRCm39) |
T19A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,451 (GRCm39) |
Y25185H |
probably damaging |
Het |
| Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
Het |
| Wfdc8 |
G |
T |
2: 164,445,123 (GRCm39) |
A164E |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,111,718 (GRCm39) |
|
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,036,361 (GRCm39) |
S91T |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,623 (GRCm39) |
F263L |
probably damaging |
Het |
| Zfp800 |
G |
A |
6: 28,243,135 (GRCm39) |
T610I |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,804,729 (GRCm39) |
F475L |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACATCCTTAAGAGCTCAGCTTC -3'
(R):5'- GAGCCTCCTCTAGTCCTTACTAAAAC -3'
Sequencing Primer
(F):5'- AGAGCTCAGCTTCTCTCTTTTATTAG -3'
(R):5'- GTCCTTACTAAAACATGAAGACAGTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation