Incidental Mutation 'R7152:Tssc4'
| ID |
554202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tssc4
|
| Ensembl Gene |
ENSMUSG00000045752 |
| Gene Name |
tumor-suppressing subchromosomal transferable fragment 4 |
| Synonyms |
ESTM671070 |
| MMRRC Submission |
045254-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R7152 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
142622986-142624830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142624139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 149
(V149D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000037941]
[ENSMUST00000060433]
[ENSMUST00000105920]
[ENSMUST00000133410]
[ENSMUST00000137856]
[ENSMUST00000141954]
[ENSMUST00000147995]
[ENSMUST00000150867]
[ENSMUST00000177841]
[ENSMUST00000207448]
[ENSMUST00000208779]
|
| AlphaFold |
Q9JHE7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009390
|
| SMART Domains |
Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
382 |
411 |
2e-6 |
BLAST |
|
transmembrane domain
|
644 |
666 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
736 |
989 |
1.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037941
|
| SMART Domains |
Protein: ENSMUSP00000043768
Gene: ENSMUSG00000037706
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
9 |
230 |
9.1e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060433
AA Change: V149D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056582
Gene: ENSMUSG00000045752
AA Change: V149D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
Pfam:TSSC4
|
91 |
207 |
3.9e-43 |
PFAM |
|
low complexity region
|
232 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105920
|
| SMART Domains |
Protein: ENSMUSP00000101540
Gene: ENSMUSG00000045752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133410
AA Change: V218D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123499
Gene: ENSMUSG00000045752
AA Change: V218D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
Pfam:TSSC4
|
159 |
266 |
5.2e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136602
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137856
AA Change: V149D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123353
Gene: ENSMUSG00000045752
AA Change: V149D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
Pfam:TSSC4
|
90 |
209 |
1.6e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141954
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147995
AA Change: V149D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122335
Gene: ENSMUSG00000045752
AA Change: V149D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
Pfam:TSSC4
|
90 |
196 |
4.8e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148715
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150867
|
| SMART Domains |
Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
382 |
411 |
2e-6 |
BLAST |
|
transmembrane domain
|
644 |
666 |
N/A |
INTRINSIC |
|
transmembrane domain
|
731 |
753 |
N/A |
INTRINSIC |
|
transmembrane domain
|
811 |
833 |
N/A |
INTRINSIC |
|
transmembrane domain
|
872 |
894 |
N/A |
INTRINSIC |
|
transmembrane domain
|
952 |
974 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177841
AA Change: V149D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137399
Gene: ENSMUSG00000045752
AA Change: V149D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
Pfam:TSSC4
|
90 |
210 |
1.7e-34 |
PFAM |
|
low complexity region
|
232 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207448
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208779
|
| Meta Mutation Damage Score |
0.1115 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the pan-hematopoietic expression gene (PHEMX), escapes imprinting. This gene may play a role in malignancies and disease that involve this region. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btnl10 |
A |
G |
11: 58,813,223 (GRCm39) |
N284S |
probably benign |
Het |
| Casz1 |
C |
G |
4: 148,985,748 (GRCm39) |
|
probably benign |
Het |
| Cdkn2c |
A |
T |
4: 109,522,235 (GRCm39) |
F37I |
probably damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,351,066 (GRCm39) |
K22E |
probably damaging |
Het |
| Cers1 |
T |
C |
8: 70,770,901 (GRCm39) |
W104R |
probably damaging |
Het |
| Cgrrf1 |
T |
A |
14: 47,090,934 (GRCm39) |
Y223* |
probably null |
Het |
| Cited2 |
C |
A |
10: 17,600,134 (GRCm39) |
N147K |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,525,095 (GRCm39) |
L904Q |
probably damaging |
Het |
| Cntln |
T |
C |
4: 84,802,937 (GRCm39) |
V79A |
possibly damaging |
Het |
| Cntnap1 |
C |
T |
11: 101,068,152 (GRCm39) |
R55W |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,455,384 (GRCm39) |
F477L |
|
Het |
| Ctnna2 |
T |
A |
6: 76,957,807 (GRCm39) |
T481S |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,414,464 (GRCm39) |
T570A |
possibly damaging |
Het |
| Epha7 |
A |
G |
4: 28,935,826 (GRCm39) |
K483E |
possibly damaging |
Het |
| Eps8l2 |
A |
T |
7: 140,935,678 (GRCm39) |
I150F |
possibly damaging |
Het |
| Esyt1 |
A |
G |
10: 128,351,629 (GRCm39) |
S827P |
possibly damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,787,065 (GRCm39) |
I291F |
possibly damaging |
Het |
| Foxd3 |
A |
C |
4: 99,545,562 (GRCm39) |
H234P |
probably benign |
Het |
| Ggta1 |
T |
A |
2: 35,292,711 (GRCm39) |
M199L |
probably benign |
Het |
| H3c13 |
A |
G |
3: 96,176,254 (GRCm39) |
D82G |
probably benign |
Het |
| Ighv5-15 |
T |
C |
12: 113,790,317 (GRCm39) |
E101G |
probably benign |
Het |
| Igkv8-18 |
T |
C |
6: 70,333,205 (GRCm39) |
L49P |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,371,368 (GRCm39) |
|
probably null |
Het |
| Klhl36 |
C |
T |
8: 120,596,953 (GRCm39) |
T218M |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,224,529 (GRCm39) |
F65S |
probably damaging |
Het |
| Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,346,305 (GRCm39) |
I642F |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,153,557 (GRCm39) |
D2456G |
probably damaging |
Het |
| Nphp1 |
A |
G |
2: 127,595,899 (GRCm39) |
M522T |
probably benign |
Het |
| Or51k1 |
T |
A |
7: 103,661,226 (GRCm39) |
M228L |
probably benign |
Het |
| Or8k33 |
C |
T |
2: 86,383,673 (GRCm39) |
S265N |
probably benign |
Het |
| Pam |
T |
A |
1: 97,813,465 (GRCm39) |
M322L |
probably damaging |
Het |
| Pcdhgb1 |
C |
A |
18: 37,814,854 (GRCm39) |
H448Q |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,247,194 (GRCm39) |
|
probably null |
Het |
| Pgm3 |
A |
T |
9: 86,449,593 (GRCm39) |
D142E |
probably benign |
Het |
| Pomgnt2 |
C |
T |
9: 121,812,589 (GRCm39) |
G64D |
probably damaging |
Het |
| Sds |
A |
T |
5: 120,619,716 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
G |
T |
3: 15,607,230 (GRCm39) |
Q351K |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,541,453 (GRCm39) |
M436K |
probably benign |
Het |
| Slc9a5 |
G |
A |
8: 106,095,025 (GRCm39) |
G872D |
probably benign |
Het |
| Stxbp2 |
T |
G |
8: 3,682,583 (GRCm39) |
S57R |
probably benign |
Het |
| Sult2a6 |
T |
A |
7: 13,956,445 (GRCm39) |
D272V |
probably benign |
Het |
| Supt5 |
A |
G |
7: 28,023,325 (GRCm39) |
M318T |
probably benign |
Het |
| Tdpoz3 |
T |
C |
3: 93,733,772 (GRCm39) |
V149A |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,869,871 (GRCm39) |
S124T |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,683,505 (GRCm39) |
A906T |
|
Het |
| Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,994,184 (GRCm39) |
P120L |
probably benign |
Het |
| Vmn1r37 |
T |
C |
6: 66,708,883 (GRCm39) |
Y170H |
probably benign |
Het |
| Vnn3 |
T |
A |
10: 23,727,513 (GRCm39) |
V11E |
possibly damaging |
Het |
| Zbtb7b |
C |
T |
3: 89,288,209 (GRCm39) |
R203H |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,674,839 (GRCm39) |
V1963A |
possibly damaging |
Het |
| Zfp324 |
C |
A |
7: 12,700,198 (GRCm39) |
A19E |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,325,888 (GRCm39) |
S784G |
probably benign |
Het |
|
| Other mutations in Tssc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02166:Tssc4
|
APN |
7 |
142,623,938 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0582:Tssc4
|
UTSW |
7 |
142,624,246 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0655:Tssc4
|
UTSW |
7 |
142,623,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1447:Tssc4
|
UTSW |
7 |
142,623,892 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1889:Tssc4
|
UTSW |
7 |
142,624,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Tssc4
|
UTSW |
7 |
142,624,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Tssc4
|
UTSW |
7 |
142,624,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5144:Tssc4
|
UTSW |
7 |
142,623,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7198:Tssc4
|
UTSW |
7 |
142,624,724 (GRCm39) |
splice site |
probably null |
|
|
R7417:Tssc4
|
UTSW |
7 |
142,624,425 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7468:Tssc4
|
UTSW |
7 |
142,622,999 (GRCm39) |
unclassified |
probably benign |
|
|
R7510:Tssc4
|
UTSW |
7 |
142,623,718 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7789:Tssc4
|
UTSW |
7 |
142,623,515 (GRCm39) |
splice site |
probably null |
|
|
R8178:Tssc4
|
UTSW |
7 |
142,623,932 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8808:Tssc4
|
UTSW |
7 |
142,623,436 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGGCATGAGTTCTACCTTCTC -3'
(R):5'- TCACTGGTTTGGTGAAGACC -3'
Sequencing Primer
(F):5'- CGCAGCCACAGCATCTTTG -3'
(R):5'- TCTTCCCTCCCCACAGCTAGAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation