Incidental Mutation 'R7222:Slc39a10'
| ID |
561859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc39a10
|
| Ensembl Gene |
ENSMUSG00000025986 |
| Gene Name |
solute carrier family 39 (zinc transporter), member 10 |
| Synonyms |
2900042E17Rik, Zip10 |
| MMRRC Submission |
045294-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.621)
|
| Stock # |
R7222 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
46846704-46932012 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46858452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 615
(L615P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027131]
|
| AlphaFold |
Q6P5F6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027131
AA Change: L615P
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027131
Gene: ENSMUSG00000025986
AA Change: L615P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
244 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
406 |
607 |
9.9e-44 |
PFAM |
|
Pfam:Zip
|
588 |
821 |
2.5e-69 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice with conditional loss of function display defects in cellular proliferation and differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,082,519 (GRCm39) |
N1151K |
probably benign |
Het |
| Add3 |
T |
C |
19: 53,205,277 (GRCm39) |
V9A |
unknown |
Het |
| Ankar |
A |
G |
1: 72,705,514 (GRCm39) |
I832T |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,248,580 (GRCm39) |
W785L |
probably damaging |
Het |
| Atp7b |
G |
A |
8: 22,512,394 (GRCm39) |
Q490* |
probably null |
Het |
| Chrna5 |
A |
G |
9: 54,905,347 (GRCm39) |
D53G |
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,749,904 (GRCm39) |
N993I |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,033,385 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,670,746 (GRCm39) |
N651Y |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,404,929 (GRCm39) |
|
probably null |
Het |
| Eva1c |
AGGGTGTCCTGTACGAAGGACTTCCGGG |
AGGG |
16: 90,701,072 (GRCm39) |
|
probably benign |
Het |
| Flg |
T |
A |
3: 93,195,621 (GRCm39) |
S74T |
unknown |
Het |
| Fras1 |
T |
C |
5: 96,784,045 (GRCm39) |
Y850H |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,784,668 (GRCm39) |
T884S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,814,015 (GRCm39) |
T3445A |
probably benign |
Het |
| Herc1 |
C |
A |
9: 66,374,781 (GRCm39) |
P3237H |
probably damaging |
Het |
| Ifi35 |
A |
G |
11: 101,348,341 (GRCm39) |
N123S |
probably benign |
Het |
| Igkv1-117 |
A |
T |
6: 68,098,733 (GRCm39) |
D94V |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,309,614 (GRCm39) |
D764G |
probably damaging |
Het |
| Lztr1 |
A |
G |
16: 17,341,996 (GRCm39) |
E657G |
possibly damaging |
Het |
| Mmd2 |
G |
T |
5: 142,553,682 (GRCm39) |
L160I |
probably benign |
Het |
| Muc2 |
A |
T |
7: 141,290,758 (GRCm39) |
T15S |
|
Het |
| Muc6 |
T |
A |
7: 141,214,428 (GRCm39) |
H2835L |
unknown |
Het |
| Myo1h |
G |
A |
5: 114,493,322 (GRCm39) |
|
probably null |
Het |
| Or10v5 |
C |
A |
19: 11,806,021 (GRCm39) |
R123L |
probably damaging |
Het |
| Or51ag1 |
A |
G |
7: 103,155,664 (GRCm39) |
V163A |
possibly damaging |
Het |
| Or52n4 |
T |
C |
7: 104,293,937 (GRCm39) |
D214G |
probably damaging |
Het |
| Or5d43 |
T |
A |
2: 88,104,809 (GRCm39) |
M195L |
probably benign |
Het |
| Or5p72 |
A |
G |
7: 108,021,844 (GRCm39) |
D22G |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,758 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or7g32 |
A |
T |
9: 19,388,763 (GRCm39) |
V261E |
probably damaging |
Het |
| Osbpl7 |
A |
G |
11: 96,951,364 (GRCm39) |
T684A |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,803 (GRCm39) |
K219R |
probably benign |
Het |
| Pde4d |
A |
T |
13: 109,894,113 (GRCm39) |
H156L |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,906,995 (GRCm39) |
E2319* |
probably null |
Het |
| Ranbp3 |
T |
G |
17: 57,017,211 (GRCm39) |
V409G |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,884,717 (GRCm39) |
D629G |
probably benign |
Het |
| Selenon |
T |
A |
4: 134,275,288 (GRCm39) |
T137S |
possibly damaging |
Het |
| Setd2 |
T |
A |
9: 110,380,530 (GRCm39) |
D55E |
|
Het |
| Slamf8 |
G |
A |
1: 172,411,775 (GRCm39) |
T240I |
possibly damaging |
Het |
| Speer1e |
T |
A |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
| Tbce |
T |
C |
13: 14,172,735 (GRCm39) |
D505G |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,754,004 (GRCm39) |
G800R |
probably damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,547 (GRCm39) |
V145A |
possibly damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,511,256 (GRCm39) |
I41V |
probably benign |
Het |
| Traj49 |
A |
T |
14: 54,406,160 (GRCm39) |
N6I |
|
Het |
| Trim30a |
T |
C |
7: 104,070,639 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,190,684 (GRCm39) |
S905T |
unknown |
Het |
| Unc93a2 |
A |
G |
17: 7,643,866 (GRCm39) |
S148P |
probably damaging |
Het |
| Zfp948 |
T |
A |
17: 21,808,102 (GRCm39) |
H431Q |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,601,779 (GRCm39) |
F525L |
probably benign |
Het |
|
| Other mutations in Slc39a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00543:Slc39a10
|
APN |
1 |
46,858,217 (GRCm39) |
splice site |
probably benign |
|
|
IGL01628:Slc39a10
|
APN |
1 |
46,874,683 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01939:Slc39a10
|
APN |
1 |
46,871,895 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02068:Slc39a10
|
APN |
1 |
46,858,599 (GRCm39) |
splice site |
probably benign |
|
|
IGL02093:Slc39a10
|
APN |
1 |
46,874,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02101:Slc39a10
|
APN |
1 |
46,857,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02122:Slc39a10
|
APN |
1 |
46,857,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Slc39a10
|
APN |
1 |
46,857,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02171:Slc39a10
|
APN |
1 |
46,857,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02175:Slc39a10
|
APN |
1 |
46,857,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02186:Slc39a10
|
APN |
1 |
46,857,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02699:Slc39a10
|
APN |
1 |
46,857,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02700:Slc39a10
|
APN |
1 |
46,857,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0217:Slc39a10
|
UTSW |
1 |
46,874,700 (GRCm39) |
missense |
probably benign |
|
|
R0704:Slc39a10
|
UTSW |
1 |
46,875,021 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0782:Slc39a10
|
UTSW |
1 |
46,875,156 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1527:Slc39a10
|
UTSW |
1 |
46,858,422 (GRCm39) |
missense |
probably benign |
|
|
R1566:Slc39a10
|
UTSW |
1 |
46,875,245 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1568:Slc39a10
|
UTSW |
1 |
46,865,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1664:Slc39a10
|
UTSW |
1 |
46,865,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Slc39a10
|
UTSW |
1 |
46,875,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Slc39a10
|
UTSW |
1 |
46,874,334 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2327:Slc39a10
|
UTSW |
1 |
46,875,156 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3434:Slc39a10
|
UTSW |
1 |
46,874,877 (GRCm39) |
missense |
probably benign |
|
|
R3761:Slc39a10
|
UTSW |
1 |
46,851,285 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4035:Slc39a10
|
UTSW |
1 |
46,851,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4419:Slc39a10
|
UTSW |
1 |
46,849,226 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4675:Slc39a10
|
UTSW |
1 |
46,857,144 (GRCm39) |
intron |
probably benign |
|
|
R4689:Slc39a10
|
UTSW |
1 |
46,875,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5310:Slc39a10
|
UTSW |
1 |
46,875,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Slc39a10
|
UTSW |
1 |
46,871,772 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6161:Slc39a10
|
UTSW |
1 |
46,866,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6199:Slc39a10
|
UTSW |
1 |
46,874,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6562:Slc39a10
|
UTSW |
1 |
46,874,724 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7087:Slc39a10
|
UTSW |
1 |
46,874,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:Slc39a10
|
UTSW |
1 |
46,849,230 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7568:Slc39a10
|
UTSW |
1 |
46,874,290 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7891:Slc39a10
|
UTSW |
1 |
46,851,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7918:Slc39a10
|
UTSW |
1 |
46,874,912 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9725:Slc39a10
|
UTSW |
1 |
46,849,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Slc39a10
|
UTSW |
1 |
46,849,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTGTGGATGCCGTCAC -3'
(R):5'- TGCCCAGGGTTAGATTAGCAC -3'
Sequencing Primer
(F):5'- GATCACCATCCAGGCTATATTGG -3'
(R):5'- CTGACGGATTTAGAAGCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation