Incidental Mutation 'R1749:Tspear'
| ID |
194205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspear
|
| Ensembl Gene |
ENSMUSG00000069581 |
| Gene Name |
thrombospondin type laminin G domain and EAR repeats |
| Synonyms |
C330046G03Rik, ORF65 |
| MMRRC Submission |
039781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
77522403-77722855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77705507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 302
(E302K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092366]
|
| AlphaFold |
J3S6Y1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092366
AA Change: E302K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581
AA Change: E302K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TSPN
|
1 |
71 |
8e-40 |
BLAST |
|
SCOP:d1c4ra_
|
2 |
67 |
2e-7 |
SMART |
|
low complexity region
|
190 |
200 |
N/A |
INTRINSIC |
|
Pfam:EPTP
|
208 |
255 |
2.6e-22 |
PFAM |
|
Pfam:EPTP
|
260 |
307 |
1.4e-21 |
PFAM |
|
Pfam:EPTP
|
312 |
359 |
8.9e-14 |
PFAM |
|
Pfam:EPTP
|
362 |
417 |
6.2e-13 |
PFAM |
|
Pfam:EPTP
|
422 |
469 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000092368
|
| SMART Domains |
Protein: ENSMUSP00000090022
Gene: ENSMUSG00000069581
| Domain | Start | End | E-Value | Type |
|---|
|
TSPN
|
3 |
174 |
2.24e-5 |
SMART |
|
LamG
|
34 |
173 |
1.09e-1 |
SMART |
|
low complexity region
|
293 |
303 |
N/A |
INTRINSIC |
|
Pfam:EPTP
|
311 |
357 |
3.4e-20 |
PFAM |
|
Pfam:EPTP
|
362 |
409 |
4.9e-23 |
PFAM |
|
Pfam:EPTP
|
414 |
461 |
3.1e-15 |
PFAM |
|
Pfam:EPTP
|
464 |
519 |
2.2e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125241
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 93.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
A |
T |
3: 152,178,557 (GRCm39) |
M486K |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Aspn |
A |
T |
13: 49,705,261 (GRCm39) |
D41V |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,097,623 (GRCm39) |
E802* |
probably null |
Het |
| Barhl2 |
T |
C |
5: 106,605,572 (GRCm39) |
S46G |
unknown |
Het |
| Cacna1e |
A |
G |
1: 154,319,746 (GRCm39) |
V1318A |
probably damaging |
Het |
| Ccdc69 |
T |
C |
11: 54,941,979 (GRCm39) |
R176G |
probably null |
Het |
| Cdan1 |
T |
C |
2: 120,560,280 (GRCm39) |
N321S |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,154,250 (GRCm39) |
D681G |
probably damaging |
Het |
| Cntrob |
A |
T |
11: 69,213,700 (GRCm39) |
V30E |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,449,056 (GRCm39) |
G3646E |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,789 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
T |
4: 104,185,495 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,039,352 (GRCm39) |
S167P |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,182,767 (GRCm39) |
|
probably null |
Het |
| Dok3 |
GCC |
GC |
13: 55,672,168 (GRCm39) |
|
probably null |
Het |
| Ebf1 |
A |
T |
11: 44,798,835 (GRCm39) |
I287L |
possibly damaging |
Het |
| Eci1 |
G |
A |
17: 24,645,721 (GRCm39) |
|
probably null |
Het |
| Emb |
T |
A |
13: 117,386,242 (GRCm39) |
I133N |
possibly damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,298,443 (GRCm39) |
I184V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,183,348 (GRCm39) |
D1779G |
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,315,605 (GRCm39) |
|
probably null |
Het |
| Flt1 |
G |
A |
5: 147,591,929 (GRCm39) |
T511M |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,089,456 (GRCm39) |
L205P |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,483,379 (GRCm39) |
V134A |
probably damaging |
Het |
| Htr3a |
A |
G |
9: 48,812,233 (GRCm39) |
V291A |
probably damaging |
Het |
| Ip6k3 |
T |
A |
17: 27,364,053 (GRCm39) |
T332S |
probably benign |
Het |
| Klra6 |
A |
T |
6: 129,995,915 (GRCm39) |
F148I |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,927,162 (GRCm39) |
S1206P |
probably benign |
Het |
| Mbnl2 |
T |
A |
14: 120,626,462 (GRCm39) |
C231S |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,773,952 (GRCm39) |
D5521V |
probably damaging |
Het |
| Mylip |
G |
A |
13: 45,557,946 (GRCm39) |
V52M |
possibly damaging |
Het |
| Naip6 |
A |
G |
13: 100,444,763 (GRCm39) |
S232P |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,808,550 (GRCm39) |
K504R |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,753,694 (GRCm39) |
N220S |
possibly damaging |
Het |
| Nfasc |
T |
A |
1: 132,539,370 (GRCm39) |
I393F |
probably damaging |
Het |
| Or12d2 |
T |
C |
17: 37,624,952 (GRCm39) |
T108A |
probably benign |
Het |
| Pabpc1 |
T |
C |
15: 36,608,584 (GRCm39) |
Y56C |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,938,542 (GRCm39) |
K498R |
probably damaging |
Het |
| Phldb1 |
A |
G |
9: 44,627,045 (GRCm39) |
S467P |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,544,048 (GRCm39) |
S47P |
probably benign |
Het |
| Rtca |
A |
T |
3: 116,291,293 (GRCm39) |
I229N |
possibly damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,286,359 (GRCm39) |
S617R |
probably damaging |
Het |
| Slc14a2 |
T |
G |
18: 78,190,295 (GRCm39) |
T885P |
possibly damaging |
Het |
| Sp100 |
A |
C |
1: 85,627,357 (GRCm39) |
T417P |
possibly damaging |
Het |
| Tat |
A |
T |
8: 110,722,846 (GRCm39) |
N303Y |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,185,892 (GRCm39) |
|
probably null |
Het |
| Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
| Tnks1bp1 |
A |
G |
2: 84,893,411 (GRCm39) |
S1113G |
probably benign |
Het |
| Tulp3 |
A |
G |
6: 128,314,722 (GRCm39) |
L23P |
probably damaging |
Het |
| Vti1b |
T |
C |
12: 79,211,807 (GRCm39) |
E42G |
probably damaging |
Het |
| Yeats2 |
G |
T |
16: 20,005,018 (GRCm39) |
E333* |
probably null |
Het |
| Zfp455 |
T |
G |
13: 67,355,073 (GRCm39) |
C114G |
probably damaging |
Het |
| Zfp532 |
G |
A |
18: 65,756,555 (GRCm39) |
V163M |
possibly damaging |
Het |
| Zfp940 |
A |
T |
7: 29,544,952 (GRCm39) |
C318* |
probably null |
Het |
|
| Other mutations in Tspear |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Tspear
|
APN |
10 |
77,709,070 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01726:Tspear
|
APN |
10 |
77,717,121 (GRCm39) |
intron |
probably benign |
|
|
IGL02244:Tspear
|
APN |
10 |
77,688,690 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02393:Tspear
|
APN |
10 |
77,672,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02502:Tspear
|
APN |
10 |
77,688,792 (GRCm39) |
intron |
probably benign |
|
|
IGL02653:Tspear
|
APN |
10 |
77,542,799 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03345:Tspear
|
APN |
10 |
77,710,716 (GRCm39) |
splice site |
probably null |
|
|
R0058:Tspear
|
UTSW |
10 |
77,705,465 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0058:Tspear
|
UTSW |
10 |
77,705,465 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0542:Tspear
|
UTSW |
10 |
77,716,921 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1384:Tspear
|
UTSW |
10 |
77,702,166 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1467:Tspear
|
UTSW |
10 |
77,717,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Tspear
|
UTSW |
10 |
77,717,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1545:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1625:Tspear
|
UTSW |
10 |
77,706,333 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1635:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1636:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1637:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1744:Tspear
|
UTSW |
10 |
77,700,718 (GRCm39) |
splice site |
probably null |
|
|
R1768:Tspear
|
UTSW |
10 |
77,710,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1774:Tspear
|
UTSW |
10 |
77,709,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1791:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1892:Tspear
|
UTSW |
10 |
77,706,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2014:Tspear
|
UTSW |
10 |
77,710,954 (GRCm39) |
splice site |
probably benign |
|
|
R2108:Tspear
|
UTSW |
10 |
77,706,253 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2248:Tspear
|
UTSW |
10 |
77,709,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3038:Tspear
|
UTSW |
10 |
77,722,273 (GRCm39) |
nonsense |
probably null |
|
|
R4010:Tspear
|
UTSW |
10 |
77,672,310 (GRCm39) |
intron |
probably benign |
|
|
R4661:Tspear
|
UTSW |
10 |
77,702,163 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4734:Tspear
|
UTSW |
10 |
77,700,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4789:Tspear
|
UTSW |
10 |
77,702,199 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4804:Tspear
|
UTSW |
10 |
77,612,791 (GRCm39) |
splice site |
probably null |
|
|
R4904:Tspear
|
UTSW |
10 |
77,705,489 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4937:Tspear
|
UTSW |
10 |
77,710,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4956:Tspear
|
UTSW |
10 |
77,700,601 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5590:Tspear
|
UTSW |
10 |
77,706,199 (GRCm39) |
missense |
probably benign |
|
|
R6344:Tspear
|
UTSW |
10 |
77,710,847 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6629:Tspear
|
UTSW |
10 |
77,706,343 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7611:Tspear
|
UTSW |
10 |
77,717,049 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8507:Tspear
|
UTSW |
10 |
77,710,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8811:Tspear
|
UTSW |
10 |
77,665,463 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8856:Tspear
|
UTSW |
10 |
77,665,471 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATTGGGGCTTAGACACCTTGC -3'
(R):5'- GGAGAAAACATCCTGGCTTGCCTG -3'
Sequencing Primer
(F):5'- GGCTTAGACACCTTGCATAGAAAC -3'
(R):5'- TTGTTCTGGCGGGCACC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation