Incidental Mutation 'R6344:Tspear'
| ID |
514063 |
| 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 |
044498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6344 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
77522403-77722855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77710847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 490
(F490L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092366]
|
| AlphaFold |
J3S6Y1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092366
AA Change: F490L
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581
AA Change: F490L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.7%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,327,706 (GRCm39) |
P707L |
probably damaging |
Het |
| Bbip1 |
A |
G |
19: 53,919,912 (GRCm39) |
V23A |
probably benign |
Het |
| Bdnf |
A |
T |
2: 109,554,022 (GRCm39) |
Y132F |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,583,752 (GRCm39) |
D72G |
probably benign |
Het |
| Cdcp1 |
T |
A |
9: 123,011,447 (GRCm39) |
K343N |
possibly damaging |
Het |
| Cep112 |
A |
T |
11: 108,410,000 (GRCm39) |
Y472F |
probably damaging |
Het |
| Cops2 |
A |
T |
2: 125,700,899 (GRCm39) |
|
probably benign |
Het |
| Cyp27a1 |
T |
C |
1: 74,776,008 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,436,349 (GRCm39) |
I3998V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dnhd1 |
A |
G |
7: 105,343,817 (GRCm39) |
I1720M |
probably benign |
Het |
| Fkbpl |
A |
G |
17: 34,864,544 (GRCm39) |
K104R |
probably damaging |
Het |
| Helq |
G |
T |
5: 100,914,594 (GRCm39) |
A966E |
probably benign |
Het |
| Iba57 |
G |
A |
11: 59,049,119 (GRCm39) |
P350L |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 87,989,401 (GRCm39) |
|
probably null |
Het |
| Kcnj9 |
A |
G |
1: 172,153,713 (GRCm39) |
V137A |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,672,777 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,733,156 (GRCm39) |
|
probably benign |
Het |
| Lilra5 |
T |
A |
7: 4,241,785 (GRCm39) |
F195I |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,414,033 (GRCm39) |
I349T |
probably benign |
Het |
| Mlst8 |
A |
G |
17: 24,696,300 (GRCm39) |
L143P |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,248,985 (GRCm39) |
F174L |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,416,708 (GRCm39) |
L3218Q |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,776 (GRCm39) |
S275G |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,067,791 (GRCm39) |
V615D |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,780,558 (GRCm39) |
L485P |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,378,534 (GRCm39) |
Y1646H |
probably damaging |
Het |
| Nsf |
A |
T |
11: 103,752,730 (GRCm39) |
V539D |
probably damaging |
Het |
| Nutm1 |
A |
T |
2: 112,079,247 (GRCm39) |
N889K |
possibly damaging |
Het |
| Or2n1b |
C |
T |
17: 38,459,611 (GRCm39) |
A44V |
probably benign |
Het |
| Or55b3 |
A |
G |
7: 102,126,738 (GRCm39) |
L113P |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,803,815 (GRCm39) |
V553E |
probably benign |
Het |
| Pkmyt1 |
T |
C |
17: 23,951,730 (GRCm39) |
S95P |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,319,708 (GRCm39) |
|
probably null |
Het |
| Saxo2 |
T |
A |
7: 82,284,073 (GRCm39) |
I262F |
probably damaging |
Het |
| Sco1 |
C |
T |
11: 66,946,571 (GRCm39) |
R115W |
probably damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,294,961 (GRCm39) |
Y330* |
probably null |
Het |
| Slc6a4 |
C |
T |
11: 76,909,080 (GRCm39) |
T364I |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,377,023 (GRCm39) |
I388V |
probably benign |
Het |
| Smc6 |
C |
A |
12: 11,347,107 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
C |
T |
8: 46,488,675 (GRCm39) |
W747* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,534,801 (GRCm39) |
M3686K |
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,972,212 (GRCm39) |
D8732G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,574,105 (GRCm39) |
S36P |
possibly damaging |
Het |
| Trpv6 |
T |
C |
6: 41,602,356 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,552,196 (GRCm39) |
I31147T |
probably damaging |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,317 (GRCm39) |
E155D |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Washc2 |
G |
T |
6: 116,235,719 (GRCm39) |
Q977H |
probably benign |
Het |
| Yars2 |
T |
A |
16: 16,120,899 (GRCm39) |
W18R |
probably benign |
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 |
|
|
R1749:Tspear
|
UTSW |
10 |
77,705,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- ATGGGCACAGTAGCTGTCTG -3'
(R):5'- ATAGATCTCACCACAGCTTCATAG -3'
Sequencing Primer
(F):5'- TCCTGCAAGCAGCTGTGAAC -3'
(R):5'- AGCTTCATAGAACATATTCCCCC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation