Incidental Mutation 'R2441:Tesmin'
| ID |
249801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tesmin
|
| Ensembl Gene |
ENSMUSG00000024905 |
| Gene Name |
testis expressed metallothionein like |
| Synonyms |
Mtl5, tesmin |
| MMRRC Submission |
040399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R2441 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
3438857-3457823 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 3452577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025840]
[ENSMUST00000127142]
[ENSMUST00000142193]
[ENSMUST00000151341]
|
| AlphaFold |
Q9WTJ6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025840
|
| SMART Domains |
Protein: ENSMUSP00000025840
Gene: ENSMUSG00000024905
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
123 |
N/A |
INTRINSIC |
|
Blast:CXC
|
246 |
287 |
4e-13 |
BLAST |
|
CXC
|
332 |
373 |
1.37e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127142
|
| SMART Domains |
Protein: ENSMUSP00000122687
Gene: ENSMUSG00000024905
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CXC
|
67 |
107 |
1e-13 |
BLAST |
|
CXC
|
152 |
193 |
1.37e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142193
|
| SMART Domains |
Protein: ENSMUSP00000114171
Gene: ENSMUSG00000024905
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CXC
|
67 |
107 |
1e-13 |
BLAST |
|
CXC
|
152 |
193 |
1.37e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151341
|
| SMART Domains |
Protein: ENSMUSP00000114142
Gene: ENSMUSG00000024905
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
123 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,449 (GRCm39) |
N172S |
possibly damaging |
Het |
| AY358078 |
A |
G |
14: 52,037,546 (GRCm39) |
H15R |
probably benign |
Het |
| Boc |
A |
G |
16: 44,308,986 (GRCm39) |
V842A |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,085,360 (GRCm39) |
N262I |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,526,232 (GRCm39) |
L590Q |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,815,685 (GRCm39) |
H3806L |
possibly damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,952,761 (GRCm39) |
D224G |
probably damaging |
Het |
| Hgf |
A |
T |
5: 16,809,788 (GRCm39) |
H426L |
probably damaging |
Het |
| Nrxn2 |
G |
T |
19: 6,478,331 (GRCm39) |
G85W |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 77,952,410 (GRCm39) |
N602K |
probably damaging |
Het |
| Or13p10 |
G |
A |
4: 118,523,332 (GRCm39) |
G206D |
possibly damaging |
Het |
| Or5p51 |
T |
C |
7: 107,444,185 (GRCm39) |
T252A |
probably benign |
Het |
| P3h4 |
G |
A |
11: 100,304,594 (GRCm39) |
R216W |
probably damaging |
Het |
| Pced1b |
T |
A |
15: 97,282,166 (GRCm39) |
D68E |
possibly damaging |
Het |
| Pzp |
A |
T |
6: 128,466,731 (GRCm39) |
L1161* |
probably null |
Het |
| Rprd1a |
A |
T |
18: 24,640,257 (GRCm39) |
L173* |
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,103,509 (GRCm39) |
I127V |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,631,210 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
T |
G |
3: 99,259,827 (GRCm39) |
M566R |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,837,501 (GRCm39) |
V603A |
probably damaging |
Het |
| Tob2 |
G |
T |
15: 81,735,923 (GRCm39) |
Y15* |
probably null |
Het |
| Trim23 |
A |
T |
13: 104,328,583 (GRCm39) |
Q307L |
probably damaging |
Het |
| Trpc4 |
A |
T |
3: 54,129,704 (GRCm39) |
I157L |
probably damaging |
Het |
| Tsen34 |
A |
T |
7: 3,697,994 (GRCm39) |
K87N |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 37,989,589 (GRCm39) |
S2076P |
probably damaging |
Het |
| Vmn2r59 |
C |
T |
7: 41,695,570 (GRCm39) |
V281I |
probably benign |
Het |
| Vwa3b |
T |
C |
1: 37,182,150 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
C |
T |
6: 125,013,612 (GRCm39) |
P544L |
probably benign |
Het |
|
| Other mutations in Tesmin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02552:Tesmin
|
APN |
19 |
3,452,483 (GRCm39) |
unclassified |
probably benign |
|
|
R0207:Tesmin
|
UTSW |
19 |
3,454,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5139:Tesmin
|
UTSW |
19 |
3,456,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5272:Tesmin
|
UTSW |
19 |
3,456,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6077:Tesmin
|
UTSW |
19 |
3,439,260 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7246:Tesmin
|
UTSW |
19 |
3,456,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7357:Tesmin
|
UTSW |
19 |
3,447,042 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7567:Tesmin
|
UTSW |
19 |
3,442,218 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8419:Tesmin
|
UTSW |
19 |
3,439,077 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8782:Tesmin
|
UTSW |
19 |
3,445,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8922:Tesmin
|
UTSW |
19 |
3,454,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9047:Tesmin
|
UTSW |
19 |
3,439,431 (GRCm39) |
intron |
probably benign |
|
|
R9241:Tesmin
|
UTSW |
19 |
3,439,010 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTAGAAGACATCACACCCCTG -3'
(R):5'- AGAGGTGAGACAGACTATGCTC -3'
Sequencing Primer
(F):5'- ACACCCCTGCTTCCAATTCTAATG -3'
(R):5'- GAGACAGACTATGCTCTTCAGTCAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation