Incidental Mutation 'IGL00594:Tenm1'
| ID |
3131 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tenm1
|
| Ensembl Gene |
ENSMUSG00000016150 |
| Gene Name |
teneurin transmembrane protein 1 |
| Synonyms |
Odz1, teneurin-1, TCAP-1, Ten-m1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
IGL00594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
41616743-42518003 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 41803913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 837
(P837T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016294]
[ENSMUST00000115058]
[ENSMUST00000115059]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016294
AA Change: P837T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000016294
Gene: ENSMUSG00000016150
AA Change: P837T
| 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 |
probably benign
Transcript: ENSMUST00000115058
AA Change: P837T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110710
Gene: ENSMUSG00000016150
AA Change: P837T
| 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 |
probably benign
Transcript: ENSMUST00000115059
AA Change: P837T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110711
Gene: ENSMUSG00000016150
AA Change: P837T
| 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 |
|
| 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 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,109 (GRCm39) |
T154A |
probably benign |
Het |
| Acox1 |
A |
G |
11: 116,065,331 (GRCm39) |
|
probably benign |
Het |
| Adgrg2 |
G |
A |
X: 159,268,773 (GRCm39) |
V677I |
probably benign |
Het |
| Aifm1 |
T |
C |
X: 47,570,976 (GRCm39) |
T386A |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,415,160 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,453 (GRCm39) |
V175A |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,970,775 (GRCm39) |
Y987H |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,841 (GRCm39) |
M911L |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,290,811 (GRCm39) |
V354A |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,798,041 (GRCm39) |
N126D |
probably benign |
Het |
| Igkv3-7 |
T |
C |
6: 70,584,807 (GRCm39) |
V49A |
possibly damaging |
Het |
| Kbtbd8 |
A |
T |
6: 95,103,494 (GRCm39) |
Y381F |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,743,318 (GRCm39) |
T215M |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,316,624 (GRCm39) |
V2119E |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,892,647 (GRCm39) |
V322A |
probably benign |
Het |
| Mageb5b |
C |
T |
X: 90,679,091 (GRCm39) |
Q348* |
probably null |
Het |
| Ms4a14 |
A |
G |
19: 11,278,983 (GRCm39) |
S1192P |
possibly damaging |
Het |
| Ndufaf6 |
T |
C |
4: 11,062,127 (GRCm39) |
Y168C |
probably damaging |
Het |
| Plcg2 |
C |
T |
8: 118,282,810 (GRCm39) |
T97I |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,966 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,777 (GRCm39) |
H515R |
probably benign |
Het |
| Rpn1 |
G |
T |
6: 88,072,611 (GRCm39) |
R318L |
probably damaging |
Het |
| Shroom2 |
A |
T |
X: 151,396,512 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,880 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
A |
G |
19: 38,884,487 (GRCm39) |
E346G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,294 (GRCm39) |
F361S |
possibly damaging |
Het |
| Tmem144 |
A |
G |
3: 79,746,474 (GRCm39) |
V27A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,973,789 (GRCm39) |
N19K |
possibly damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,724,659 (GRCm39) |
Y543H |
possibly damaging |
Het |
|
| Other mutations in Tenm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R5706: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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation