Incidental Mutation 'R5429:Slc30a7'
| ID |
427057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc30a7
|
| Ensembl Gene |
ENSMUSG00000054414 |
| Gene Name |
solute carrier family 30 (zinc transporter), member 7 |
| Synonyms |
ZnT7, 4833428C12Rik, 2610034N15Rik, 1810059J10Rik, ZnT-7 |
| MMRRC Submission |
042995-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.781)
|
| Stock # |
R5429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
115732622-115801055 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115800574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 31
(S31P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029575]
[ENSMUST00000067485]
[ENSMUST00000106501]
[ENSMUST00000106502]
|
| AlphaFold |
Q9JKN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029575
|
| SMART Domains |
Protein: ENSMUSP00000029575
Gene: ENSMUSG00000027963
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
41 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_64
|
67 |
321 |
8.5e-88 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067485
AA Change: S31P
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414
AA Change: S31P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
38 |
296 |
3.3e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106501
|
| SMART Domains |
Protein: ENSMUSP00000102110
Gene: ENSMUSG00000027963
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_64
|
53 |
307 |
1.7e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106502
|
| SMART Domains |
Protein: ENSMUSP00000102111
Gene: ENSMUSG00000027963
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
41 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_64
|
67 |
321 |
1.4e-86 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149920
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a low body zinc status, reduced food intake and poor body weight gain, and are lean due to a significant reduction in body fat accumulation; however, no signs of hair growth abnormalities or dermatitis are observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
G |
7: 75,252,652 (GRCm39) |
S261A |
possibly damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
| Auts2 |
G |
A |
5: 131,501,173 (GRCm39) |
T289M |
probably damaging |
Het |
| Btaf1 |
G |
A |
19: 36,972,257 (GRCm39) |
V1331I |
possibly damaging |
Het |
| Ciz1 |
T |
A |
2: 32,266,055 (GRCm39) |
I609K |
possibly damaging |
Het |
| Clca3b |
C |
T |
3: 144,552,220 (GRCm39) |
V154I |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,960,157 (GRCm39) |
T564A |
possibly damaging |
Het |
| Csrnp2 |
A |
G |
15: 100,379,935 (GRCm39) |
V452A |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,744,177 (GRCm39) |
D677G |
probably damaging |
Het |
| Filip1l |
A |
T |
16: 57,390,618 (GRCm39) |
E402V |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Ghr |
G |
A |
15: 3,418,157 (GRCm39) |
Q37* |
probably null |
Het |
| Gm10770 |
C |
T |
2: 150,021,343 (GRCm39) |
R58H |
probably benign |
Het |
| Gm12789 |
T |
C |
4: 101,847,158 (GRCm39) |
Y148H |
possibly damaging |
Het |
| Herc4 |
T |
A |
10: 63,110,792 (GRCm39) |
N234K |
probably benign |
Het |
| Itih3 |
A |
G |
14: 30,645,478 (GRCm39) |
V10A |
probably benign |
Het |
| Kat14 |
T |
A |
2: 144,235,243 (GRCm39) |
D234E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,926,245 (GRCm39) |
|
probably null |
Het |
| Kif2b |
A |
G |
11: 91,468,055 (GRCm39) |
V76A |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,403,650 (GRCm39) |
T150A |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,507,293 (GRCm39) |
L398H |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nfx1 |
T |
C |
4: 41,004,343 (GRCm39) |
C705R |
probably damaging |
Het |
| Or13a27 |
A |
G |
7: 139,925,186 (GRCm39) |
F239L |
possibly damaging |
Het |
| Or2ak5 |
T |
A |
11: 58,611,350 (GRCm39) |
N175Y |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,338,635 (GRCm39) |
S931P |
probably benign |
Het |
| Pdpk1 |
T |
C |
17: 24,310,534 (GRCm39) |
E205G |
probably benign |
Het |
| Ppp2r2a |
A |
T |
14: 67,261,205 (GRCm39) |
F172I |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,500,537 (GRCm39) |
D452V |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,208,751 (GRCm39) |
T185S |
probably damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,183,898 (GRCm39) |
V209A |
probably benign |
Het |
| Safb |
T |
C |
17: 56,895,822 (GRCm39) |
V20A |
probably benign |
Het |
| Scaf8 |
C |
A |
17: 3,247,385 (GRCm39) |
P903T |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,079,024 (GRCm39) |
|
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Tbc1d32 |
T |
C |
10: 55,904,089 (GRCm39) |
D1226G |
probably damaging |
Het |
| Tlnrd1 |
G |
T |
7: 83,531,522 (GRCm39) |
T303N |
probably damaging |
Het |
| Tmc1 |
G |
T |
19: 20,766,986 (GRCm39) |
N738K |
possibly damaging |
Het |
| Tmem41a |
A |
G |
16: 21,753,606 (GRCm39) |
I255T |
probably benign |
Het |
| Trim7 |
G |
A |
11: 48,740,782 (GRCm39) |
C293Y |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,634,075 (GRCm39) |
Q385* |
probably null |
Het |
| Ttc39b |
A |
G |
4: 83,162,190 (GRCm39) |
I330T |
possibly damaging |
Het |
| Vil1 |
C |
T |
1: 74,471,490 (GRCm39) |
T757I |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,060,077 (GRCm39) |
V1201A |
probably damaging |
Het |
| Zfp473 |
T |
A |
7: 44,382,272 (GRCm39) |
E686V |
possibly damaging |
Het |
| Zfp998 |
G |
A |
13: 66,579,887 (GRCm39) |
P199S |
probably benign |
Het |
|
| Other mutations in Slc30a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00561:Slc30a7
|
APN |
3 |
115,740,369 (GRCm39) |
splice site |
probably null |
|
|
IGL01161:Slc30a7
|
APN |
3 |
115,747,759 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01360:Slc30a7
|
APN |
3 |
115,783,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02573:Slc30a7
|
APN |
3 |
115,783,796 (GRCm39) |
splice site |
probably benign |
|
|
R0833:Slc30a7
|
UTSW |
3 |
115,783,789 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0836:Slc30a7
|
UTSW |
3 |
115,783,789 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1381:Slc30a7
|
UTSW |
3 |
115,750,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2445:Slc30a7
|
UTSW |
3 |
115,772,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4072:Slc30a7
|
UTSW |
3 |
115,740,329 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4850:Slc30a7
|
UTSW |
3 |
115,786,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5586:Slc30a7
|
UTSW |
3 |
115,783,700 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6170:Slc30a7
|
UTSW |
3 |
115,784,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Slc30a7
|
UTSW |
3 |
115,775,460 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6889:Slc30a7
|
UTSW |
3 |
115,747,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:Slc30a7
|
UTSW |
3 |
115,800,995 (GRCm39) |
unclassified |
probably benign |
|
|
R8872:Slc30a7
|
UTSW |
3 |
115,740,317 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
X0023:Slc30a7
|
UTSW |
3 |
115,783,674 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGCTACGTGGCACTAAG -3'
(R):5'- AAGATCTCAGGCTGGTTTAGG -3'
Sequencing Primer
(F):5'- AAGCAAATAGTGGCTTGTCTCCC -3'
(R):5'- CAGGCTGGTTTAGGTGCGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation