Incidental Mutation 'R6899:Slc39a12'
| ID |
540999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc39a12
|
| Ensembl Gene |
ENSMUSG00000036949 |
| Gene Name |
solute carrier family 39 (zinc transporter), member 12 |
| Synonyms |
LOC277468 |
| MMRRC Submission |
044993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6899 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14393127-14499788 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 14394352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 74
(P74L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082290]
[ENSMUST00000114731]
[ENSMUST00000133258]
|
| AlphaFold |
Q5FWH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082290
AA Change: P74L
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
AA Change: P74L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
364 |
681 |
1.8e-65 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114731
AA Change: P74L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949
AA Change: P74L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
382 |
511 |
2.5e-17 |
PFAM |
|
Pfam:Zip
|
492 |
661 |
1.5e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133258
|
| SMART Domains |
Protein: ENSMUSP00000122795
Gene: ENSMUSG00000036949
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 95.9%
|
| Validation Efficiency |
98% (56/57) |
| 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. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,126,264 (GRCm39) |
Y1140C |
probably damaging |
Het |
| Actl9 |
G |
A |
17: 33,652,533 (GRCm39) |
G198S |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 69,130,500 (GRCm39) |
M129K |
probably damaging |
Het |
| Apmap |
T |
A |
2: 150,436,228 (GRCm39) |
I107F |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,037,330 (GRCm39) |
I162T |
probably damaging |
Het |
| Asprv1 |
T |
C |
6: 86,605,742 (GRCm39) |
L196P |
probably damaging |
Het |
| Atpsckmt |
A |
G |
15: 31,617,257 (GRCm39) |
S163G |
probably benign |
Het |
| Bag2 |
A |
G |
1: 33,785,912 (GRCm39) |
S137P |
possibly damaging |
Het |
| Borcs5 |
T |
A |
6: 134,687,173 (GRCm39) |
M177K |
probably benign |
Het |
| C8b |
A |
T |
4: 104,644,071 (GRCm39) |
K246M |
probably benign |
Het |
| Cdo1 |
A |
G |
18: 46,856,407 (GRCm39) |
C76R |
probably damaging |
Het |
| Ces2b |
T |
A |
8: 105,563,398 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,224,902 (GRCm39) |
S194N |
probably benign |
Het |
| Dap3 |
A |
G |
3: 88,840,907 (GRCm39) |
F77L |
probably benign |
Het |
| Dars1 |
A |
G |
1: 128,341,483 (GRCm39) |
V44A |
possibly damaging |
Het |
| Dhtkd1 |
T |
A |
2: 5,922,776 (GRCm39) |
D461V |
possibly damaging |
Het |
| Ero1a |
A |
C |
14: 45,530,396 (GRCm39) |
H345Q |
probably benign |
Het |
| Fzd8 |
T |
A |
18: 9,214,729 (GRCm39) |
S604T |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Gramd1c |
T |
A |
16: 43,860,505 (GRCm39) |
Y64F |
probably benign |
Het |
| Heatr5b |
T |
A |
17: 79,110,938 (GRCm39) |
Y970F |
probably benign |
Het |
| Hoxc10 |
A |
G |
15: 102,875,942 (GRCm39) |
E217G |
possibly damaging |
Het |
| Hsd17b14 |
A |
T |
7: 45,212,352 (GRCm39) |
H128L |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifna9 |
A |
G |
4: 88,510,300 (GRCm39) |
F108S |
probably damaging |
Het |
| Ikbke |
A |
G |
1: 131,203,499 (GRCm39) |
V58A |
probably damaging |
Het |
| Inpp5e |
G |
A |
2: 26,290,060 (GRCm39) |
R462C |
possibly damaging |
Het |
| Junb |
A |
G |
8: 85,704,353 (GRCm39) |
F236L |
probably benign |
Het |
| Klhl36 |
T |
C |
8: 120,596,881 (GRCm39) |
V194A |
probably benign |
Het |
| Lsg1 |
A |
T |
16: 30,400,906 (GRCm39) |
D134E |
probably benign |
Het |
| Megf8 |
G |
T |
7: 25,060,138 (GRCm39) |
C2343F |
probably damaging |
Het |
| Mtres1 |
T |
C |
10: 43,408,780 (GRCm39) |
E121G |
possibly damaging |
Het |
| Myom3 |
G |
A |
4: 135,530,603 (GRCm39) |
G1172R |
probably damaging |
Het |
| Nasp |
A |
T |
4: 116,461,530 (GRCm39) |
V548E |
probably damaging |
Het |
| Nubpl |
T |
A |
12: 52,357,536 (GRCm39) |
S317T |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,075,204 (GRCm39) |
D838G |
possibly damaging |
Het |
| Oxsr1 |
C |
T |
9: 119,076,188 (GRCm39) |
A373T |
probably benign |
Het |
| Psat1 |
C |
T |
19: 15,895,569 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Slain1 |
C |
T |
14: 103,888,215 (GRCm39) |
P45L |
possibly damaging |
Het |
| Slc16a8 |
A |
G |
15: 79,137,949 (GRCm39) |
V20A |
possibly damaging |
Het |
| Slc22a13 |
A |
T |
9: 119,025,473 (GRCm39) |
M145K |
probably damaging |
Het |
| Slc22a4 |
G |
A |
11: 53,879,739 (GRCm39) |
T440I |
probably damaging |
Het |
| Sod3 |
A |
G |
5: 52,526,050 (GRCm39) |
T250A |
unknown |
Het |
| Syne2 |
A |
G |
12: 76,142,503 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,387,019 (GRCm39) |
Y299H |
probably damaging |
Het |
| Tfcp2l1 |
A |
G |
1: 118,603,305 (GRCm39) |
M448V |
probably benign |
Het |
| Tfpi |
C |
T |
2: 84,275,153 (GRCm39) |
G152S |
probably damaging |
Het |
| Thap4 |
A |
G |
1: 93,678,691 (GRCm39) |
S32P |
probably damaging |
Het |
| Tmem132c |
T |
A |
5: 127,628,744 (GRCm39) |
W549R |
probably damaging |
Het |
| Vmn2r29 |
T |
C |
7: 7,244,641 (GRCm39) |
E411G |
probably damaging |
Het |
| Washc4 |
C |
A |
10: 83,411,919 (GRCm39) |
D683E |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,057,217 (GRCm39) |
V462D |
possibly damaging |
Het |
| Wdr5b |
T |
C |
16: 35,862,150 (GRCm39) |
S90P |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,559 (GRCm39) |
L518P |
possibly damaging |
Het |
| Zfp53 |
A |
G |
17: 21,728,707 (GRCm39) |
I247V |
possibly damaging |
Het |
|
| Other mutations in Slc39a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00536:Slc39a12
|
APN |
2 |
14,400,879 (GRCm39) |
splice site |
probably benign |
|
|
IGL01597:Slc39a12
|
APN |
2 |
14,439,120 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02516:Slc39a12
|
APN |
2 |
14,405,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
greenshoot
|
UTSW |
2 |
14,425,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sapling
|
UTSW |
2 |
14,440,489 (GRCm39) |
missense |
probably benign |
|
|
Seedling
|
UTSW |
2 |
14,439,174 (GRCm39) |
splice site |
probably benign |
|
|
stripling
|
UTSW |
2 |
14,405,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0068:Slc39a12
|
UTSW |
2 |
14,440,489 (GRCm39) |
missense |
probably benign |
|
|
R0068:Slc39a12
|
UTSW |
2 |
14,440,489 (GRCm39) |
missense |
probably benign |
|
|
R0453:Slc39a12
|
UTSW |
2 |
14,440,492 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0533:Slc39a12
|
UTSW |
2 |
14,405,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0718:Slc39a12
|
UTSW |
2 |
14,412,237 (GRCm39) |
splice site |
probably benign |
|
|
R1647:Slc39a12
|
UTSW |
2 |
14,456,803 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1648:Slc39a12
|
UTSW |
2 |
14,456,803 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1879:Slc39a12
|
UTSW |
2 |
14,448,868 (GRCm39) |
missense |
probably benign |
|
|
R1993:Slc39a12
|
UTSW |
2 |
14,439,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2429:Slc39a12
|
UTSW |
2 |
14,409,897 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3746:Slc39a12
|
UTSW |
2 |
14,400,878 (GRCm39) |
splice site |
probably benign |
|
|
R3934:Slc39a12
|
UTSW |
2 |
14,439,174 (GRCm39) |
splice site |
probably benign |
|
|
R3941:Slc39a12
|
UTSW |
2 |
14,400,992 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4008:Slc39a12
|
UTSW |
2 |
14,456,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4478:Slc39a12
|
UTSW |
2 |
14,424,990 (GRCm39) |
nonsense |
probably null |
|
|
R4622:Slc39a12
|
UTSW |
2 |
14,405,136 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4760:Slc39a12
|
UTSW |
2 |
14,405,134 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5477:Slc39a12
|
UTSW |
2 |
14,394,193 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5566:Slc39a12
|
UTSW |
2 |
14,412,414 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5725:Slc39a12
|
UTSW |
2 |
14,394,075 (GRCm39) |
start gained |
probably benign |
|
|
R5798:Slc39a12
|
UTSW |
2 |
14,454,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Slc39a12
|
UTSW |
2 |
14,412,290 (GRCm39) |
nonsense |
probably null |
|
|
R6169:Slc39a12
|
UTSW |
2 |
14,405,044 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6180:Slc39a12
|
UTSW |
2 |
14,400,938 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6802:Slc39a12
|
UTSW |
2 |
14,424,896 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6847:Slc39a12
|
UTSW |
2 |
14,454,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6931:Slc39a12
|
UTSW |
2 |
14,394,186 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7131:Slc39a12
|
UTSW |
2 |
14,454,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Slc39a12
|
UTSW |
2 |
14,456,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Slc39a12
|
UTSW |
2 |
14,499,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7568:Slc39a12
|
UTSW |
2 |
14,404,939 (GRCm39) |
splice site |
probably null |
|
|
R7684:Slc39a12
|
UTSW |
2 |
14,454,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7761:Slc39a12
|
UTSW |
2 |
14,439,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7785:Slc39a12
|
UTSW |
2 |
14,425,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Slc39a12
|
UTSW |
2 |
14,454,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9199:Slc39a12
|
UTSW |
2 |
14,394,321 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9280:Slc39a12
|
UTSW |
2 |
14,401,003 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9571:Slc39a12
|
UTSW |
2 |
14,412,380 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGACATGTGCTTCTGGAC -3'
(R):5'- ATTATTGTGCCAGGCTGAACTTC -3'
Sequencing Primer
(F):5'- GGACATGTGCTTCTGGACCAATC -3'
(R):5'- CAGGCTGAACTTCTAGCTTGCATATG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation