Incidental Mutation 'R5706:Tenm1'
ID |
452001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tenm1
|
Ensembl Gene |
ENSMUSG00000016150 |
Gene Name |
teneurin transmembrane protein 1 |
Synonyms |
Odz1, teneurin-1, TCAP-1, Ten-m1 |
MMRRC Submission |
043331-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.346)
|
Stock # |
R5706 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
X |
Chromosomal Location |
41616743-42518003 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42163572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 107
(V107A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110711
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016294]
[ENSMUST00000115058]
[ENSMUST00000115059]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016294
AA Change: V107A
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000016294 Gene: ENSMUSG00000016150 AA Change: V107A
Domain | Start | End | E-Value | Type |
Pfam:Ten_N
|
12 |
177 |
5.1e-30 |
PFAM |
Pfam:Ten_N
|
168 |
317 |
1.5e-45 |
PFAM |
transmembrane domain
|
318 |
340 |
N/A |
INTRINSIC |
EGF
|
530 |
558 |
8.8e-3 |
SMART |
EGF_like
|
561 |
589 |
2.5e-1 |
SMART |
EGF
|
594 |
623 |
1.2e-2 |
SMART |
EGF
|
626 |
655 |
4.5e-3 |
SMART |
EGF
|
660 |
690 |
1.1e-1 |
SMART |
EGF
|
693 |
721 |
6e-2 |
SMART |
EGF
|
724 |
752 |
1.5e-2 |
SMART |
EGF
|
763 |
795 |
1.6e-2 |
SMART |
low complexity region
|
801 |
816 |
N/A |
INTRINSIC |
Pfam:Tox-GHH
|
2647 |
2724 |
5e-29 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115058
AA Change: V107A
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110710 Gene: ENSMUSG00000016150 AA Change: V107A
Domain | Start | End | E-Value | Type |
Pfam:Ten_N
|
11 |
170 |
5.4e-36 |
PFAM |
Pfam:Ten_N
|
159 |
317 |
7.4e-46 |
PFAM |
transmembrane domain
|
318 |
340 |
N/A |
INTRINSIC |
EGF
|
530 |
558 |
1.73e0 |
SMART |
EGF_like
|
561 |
589 |
5.13e1 |
SMART |
EGF
|
594 |
623 |
2.45e0 |
SMART |
EGF
|
626 |
655 |
9.27e-1 |
SMART |
EGF
|
660 |
690 |
2.29e1 |
SMART |
EGF
|
693 |
721 |
1.2e1 |
SMART |
EGF
|
724 |
752 |
3.01e0 |
SMART |
EGF
|
763 |
795 |
3.23e0 |
SMART |
low complexity region
|
801 |
816 |
N/A |
INTRINSIC |
Pfam:Tox-GHH
|
2639 |
2717 |
1.1e-33 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115059
AA Change: V107A
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110711 Gene: ENSMUSG00000016150 AA Change: V107A
Domain | Start | End | E-Value | Type |
Pfam:Ten_N
|
11 |
170 |
1.2e-32 |
PFAM |
Pfam:Ten_N
|
159 |
317 |
1.6e-42 |
PFAM |
transmembrane domain
|
318 |
340 |
N/A |
INTRINSIC |
EGF
|
530 |
558 |
8.6e-3 |
SMART |
EGF_like
|
561 |
589 |
2.5e-1 |
SMART |
EGF
|
594 |
623 |
1.2e-2 |
SMART |
EGF
|
626 |
655 |
4.4e-3 |
SMART |
EGF
|
660 |
690 |
1.1e-1 |
SMART |
EGF
|
693 |
721 |
5.8e-2 |
SMART |
EGF
|
724 |
752 |
1.5e-2 |
SMART |
EGF
|
763 |
795 |
1.6e-2 |
SMART |
low complexity region
|
801 |
816 |
N/A |
INTRINSIC |
Pfam:Tox-GHH
|
2646 |
2724 |
2.3e-30 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154433
|
Meta Mutation Damage Score |
0.1150 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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 belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,847,910 (GRCm39) |
M77K |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,349,769 (GRCm39) |
V467A |
probably damaging |
Het |
Atf4 |
T |
C |
15: 80,140,531 (GRCm39) |
V11A |
possibly damaging |
Het |
B4galt1 |
T |
C |
4: 40,807,268 (GRCm39) |
N373D |
probably damaging |
Het |
Bpifa3 |
A |
G |
2: 153,977,498 (GRCm39) |
K112R |
probably damaging |
Het |
Chd2 |
T |
A |
7: 73,141,105 (GRCm39) |
Y596F |
possibly damaging |
Het |
Clspn |
T |
C |
4: 126,472,211 (GRCm39) |
S962P |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,722,762 (GRCm39) |
D262G |
possibly damaging |
Het |
Dcaf11 |
T |
C |
14: 55,803,152 (GRCm39) |
I282T |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,090,462 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
G |
12: 117,987,670 (GRCm39) |
K2411Q |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,220 (GRCm39) |
V196A |
probably benign |
Het |
Fhad1 |
T |
G |
4: 141,681,427 (GRCm39) |
T538P |
probably damaging |
Het |
Fkbp10 |
A |
G |
11: 100,311,849 (GRCm39) |
D174G |
probably damaging |
Het |
Gas6 |
A |
G |
8: 13,527,098 (GRCm39) |
S217P |
probably damaging |
Het |
Heatr5b |
C |
T |
17: 79,074,304 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
A |
G |
3: 88,023,215 (GRCm39) |
E502G |
probably benign |
Het |
Klc1 |
T |
C |
12: 111,762,061 (GRCm39) |
V577A |
possibly damaging |
Het |
Lck |
T |
C |
4: 129,445,431 (GRCm39) |
|
probably null |
Het |
Mc3r |
C |
A |
2: 172,091,610 (GRCm39) |
Y277* |
probably null |
Het |
Mlxipl |
T |
C |
5: 135,162,458 (GRCm39) |
V640A |
probably benign |
Het |
Mrc2 |
A |
T |
11: 105,223,169 (GRCm39) |
N471Y |
probably damaging |
Het |
Ncan |
T |
A |
8: 70,554,667 (GRCm39) |
H1050L |
probably damaging |
Het |
Nrl |
C |
A |
14: 55,759,889 (GRCm39) |
V13F |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,967,082 (GRCm39) |
Y546F |
probably damaging |
Het |
Or52u1 |
T |
G |
7: 104,237,097 (GRCm39) |
S46A |
probably benign |
Het |
Or6c209 |
A |
G |
10: 129,483,960 (GRCm39) |
|
probably null |
Het |
Or6d14 |
A |
G |
6: 116,534,074 (GRCm39) |
I229M |
probably damaging |
Het |
Pde3b |
G |
A |
7: 114,120,927 (GRCm39) |
G684D |
probably damaging |
Het |
Prkaa1 |
C |
T |
15: 5,203,823 (GRCm39) |
T244I |
probably benign |
Het |
Scfd2 |
A |
T |
5: 74,367,059 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Smg1 |
A |
T |
7: 117,744,813 (GRCm39) |
V3113D |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,365,325 (GRCm39) |
T153A |
probably benign |
Het |
Spag16 |
A |
G |
1: 69,909,448 (GRCm39) |
T182A |
probably benign |
Het |
Spopfm1 |
T |
A |
3: 94,173,959 (GRCm39) |
H322Q |
possibly damaging |
Het |
Svs5 |
T |
C |
2: 164,079,589 (GRCm39) |
K106R |
possibly damaging |
Het |
Topaz1 |
A |
T |
9: 122,628,550 (GRCm39) |
I1546F |
possibly damaging |
Het |
Tubgcp2 |
C |
A |
7: 139,612,138 (GRCm39) |
E78* |
probably null |
Het |
Vars1 |
A |
G |
17: 35,224,457 (GRCm39) |
|
probably null |
Het |
Vmn2r109 |
A |
T |
17: 20,774,567 (GRCm39) |
W263R |
probably benign |
Het |
|
Other mutations in Tenm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00594:Tenm1
|
APN |
X |
41,803,913 (GRCm39) |
missense |
probably benign |
0.04 |
R0481:Tenm1
|
UTSW |
X |
41,625,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Tenm1
|
UTSW |
X |
41,916,078 (GRCm39) |
missense |
probably benign |
0.06 |
R1960:Tenm1
|
UTSW |
X |
41,916,078 (GRCm39) |
missense |
probably benign |
0.06 |
R3734:Tenm1
|
UTSW |
X |
41,772,944 (GRCm39) |
missense |
probably benign |
0.32 |
R4585:Tenm1
|
UTSW |
X |
41,626,856 (GRCm39) |
nonsense |
probably null |
|
R5704:Tenm1
|
UTSW |
X |
42,163,572 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6112:Tenm1
|
UTSW |
X |
41,916,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R6113:Tenm1
|
UTSW |
X |
41,916,072 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Tenm1
|
UTSW |
X |
41,625,739 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Tenm1
|
UTSW |
X |
41,988,712 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tenm1
|
UTSW |
X |
41,905,681 (GRCm39) |
nonsense |
probably null |
|
Z1176:Tenm1
|
UTSW |
X |
41,905,680 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Tenm1
|
UTSW |
X |
41,914,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCAATACCAGAAGTGATAGC -3'
(R):5'- TCATAATTACTAGCAATGGGGAAGG -3'
Sequencing Primer
(F):5'- AACTGCAGATGTAGTTTTCTTACC -3'
(R):5'- TTACTAGCAATGGGGAAGGGGAAAC -3'
|
Posted On |
2017-01-03 |