Incidental Mutation 'R5048:Slc30a5'
| ID |
394483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc30a5
|
| Ensembl Gene |
ENSMUSG00000021629 |
| Gene Name |
solute carrier family 30 (zinc transporter), member 5 |
| Synonyms |
1810010K08Rik, ZnT-5, Znt5, ZTL1, Zntl1 |
| MMRRC Submission |
042638-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
R5048 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
100939156-100969935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 100943249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 536
(L536F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067246]
[ENSMUST00000225922]
|
| AlphaFold |
Q8R4H9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067246
AA Change: L593F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065764
Gene: ENSMUSG00000021629
AA Change: L593F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
23 |
N/A |
INTRINSIC |
|
transmembrane domain
|
56 |
75 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
113 |
N/A |
INTRINSIC |
|
transmembrane domain
|
128 |
145 |
N/A |
INTRINSIC |
|
transmembrane domain
|
150 |
164 |
N/A |
INTRINSIC |
|
transmembrane domain
|
192 |
214 |
N/A |
INTRINSIC |
|
transmembrane domain
|
235 |
254 |
N/A |
INTRINSIC |
|
transmembrane domain
|
264 |
286 |
N/A |
INTRINSIC |
|
transmembrane domain
|
299 |
321 |
N/A |
INTRINSIC |
|
transmembrane domain
|
341 |
360 |
N/A |
INTRINSIC |
|
Pfam:Cation_efflux
|
417 |
645 |
1.9e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225086
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225129
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225922
AA Change: L536F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.7479 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.1%
|
| Validation Efficiency |
98% (64/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice are growth retarded and exhibit skeletal defects including reduced bone density. The majority of mutant male mice die suddenly when they reach reproductive age due to bradyarrhythmia, whereas female mice live a normal term. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,138,850 (GRCm39) |
I144V |
probably benign |
Het |
| Abhd5 |
T |
C |
9: 122,206,968 (GRCm39) |
Y85H |
probably damaging |
Het |
| Acadsb |
G |
A |
7: 131,039,198 (GRCm39) |
G323D |
probably damaging |
Het |
| Amotl2 |
A |
G |
9: 102,600,997 (GRCm39) |
R322G |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,098,641 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
C |
T |
9: 105,274,188 (GRCm39) |
R82W |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,703,380 (GRCm39) |
I139T |
possibly damaging |
Het |
| Btnl5-ps |
T |
A |
17: 34,707,697 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc85c |
A |
G |
12: 108,187,966 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,475,340 (GRCm39) |
|
probably benign |
Het |
| Defb10 |
G |
A |
8: 22,351,887 (GRCm39) |
C44Y |
probably damaging |
Het |
| Dhrs9 |
T |
C |
2: 69,224,744 (GRCm39) |
V144A |
probably damaging |
Het |
| Dnhd1 |
G |
C |
7: 105,342,904 (GRCm39) |
S1416T |
probably benign |
Het |
| Dok1 |
T |
A |
6: 83,009,087 (GRCm39) |
|
probably benign |
Het |
| Emilin2 |
G |
A |
17: 71,580,962 (GRCm39) |
T588M |
probably damaging |
Het |
| Fam181b |
A |
G |
7: 92,729,147 (GRCm39) |
|
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,691,987 (GRCm39) |
|
probably null |
Het |
| Foxi2 |
A |
G |
7: 135,013,364 (GRCm39) |
E198G |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,823,494 (GRCm39) |
A6409E |
probably damaging |
Het |
| Gje1 |
T |
C |
10: 14,593,021 (GRCm39) |
Y65C |
probably damaging |
Het |
| Gm6401 |
T |
C |
14: 41,789,724 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
T |
C |
11: 114,761,177 (GRCm39) |
*442Q |
probably null |
Het |
| Iars1 |
T |
A |
13: 49,841,713 (GRCm39) |
I67N |
probably damaging |
Het |
| Igkv4-79 |
T |
C |
6: 69,019,971 (GRCm39) |
S115G |
probably benign |
Het |
| Itga4 |
C |
A |
2: 79,103,378 (GRCm39) |
S156R |
probably benign |
Het |
| Lilra6 |
C |
T |
7: 3,918,440 (GRCm39) |
|
probably null |
Het |
| Majin |
C |
A |
19: 6,272,684 (GRCm39) |
A208E |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,030,517 (GRCm39) |
Q490R |
possibly damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mgarp |
G |
A |
3: 51,298,707 (GRCm39) |
R88C |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,980,196 (GRCm39) |
F58S |
probably damaging |
Het |
| Nemp1 |
T |
C |
10: 127,526,804 (GRCm39) |
|
probably null |
Het |
| Nlrp10 |
A |
T |
7: 108,523,772 (GRCm39) |
N569K |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,388 (GRCm39) |
|
probably null |
Het |
| Or4c106 |
T |
C |
2: 88,682,807 (GRCm39) |
V171A |
possibly damaging |
Het |
| Or5w16 |
C |
A |
2: 87,576,663 (GRCm39) |
A41E |
probably benign |
Het |
| Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
| Pigb |
T |
A |
9: 72,936,990 (GRCm39) |
|
probably null |
Het |
| Pitpnb |
T |
C |
5: 111,530,869 (GRCm39) |
F221L |
possibly damaging |
Het |
| Prox2 |
A |
T |
12: 85,141,115 (GRCm39) |
W363R |
probably damaging |
Het |
| Psmg1 |
T |
A |
16: 95,785,171 (GRCm39) |
R139S |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,554 (GRCm39) |
|
probably null |
Het |
| Samd9l |
G |
A |
6: 3,374,157 (GRCm39) |
R1035C |
probably benign |
Het |
| Shkbp1 |
G |
A |
7: 27,051,521 (GRCm39) |
|
probably benign |
Het |
| Slc6a17 |
A |
T |
3: 107,378,753 (GRCm39) |
L643* |
probably null |
Het |
| Slit3 |
T |
C |
11: 35,479,812 (GRCm39) |
Y330H |
probably damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Stoml3 |
A |
C |
3: 53,408,213 (GRCm39) |
K86N |
possibly damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,139,344 (GRCm39) |
L926Q |
possibly damaging |
Het |
| Tns4 |
T |
G |
11: 98,969,605 (GRCm39) |
R285S |
possibly damaging |
Het |
| Uncx |
C |
T |
5: 139,532,874 (GRCm39) |
T313M |
probably benign |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,735 (GRCm39) |
R253C |
possibly damaging |
Het |
| Zbed6 |
T |
C |
1: 133,586,462 (GRCm39) |
S292G |
probably damaging |
Het |
| Zfp143 |
A |
G |
7: 109,673,325 (GRCm39) |
T142A |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,605,777 (GRCm39) |
K366E |
probably damaging |
Het |
|
| Other mutations in Slc30a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Slc30a5
|
APN |
13 |
100,943,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01647:Slc30a5
|
APN |
13 |
100,957,653 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02338:Slc30a5
|
APN |
13 |
100,939,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02408:Slc30a5
|
APN |
13 |
100,950,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02582:Slc30a5
|
APN |
13 |
100,949,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02987:Slc30a5
|
APN |
13 |
100,940,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03025:Slc30a5
|
APN |
13 |
100,950,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03064:Slc30a5
|
APN |
13 |
100,947,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03089:Slc30a5
|
APN |
13 |
100,950,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03268:Slc30a5
|
APN |
13 |
100,943,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Slc30a5
|
UTSW |
13 |
100,939,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0108:Slc30a5
|
UTSW |
13 |
100,939,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0108:Slc30a5
|
UTSW |
13 |
100,939,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Slc30a5
|
UTSW |
13 |
100,963,002 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0542:Slc30a5
|
UTSW |
13 |
100,945,793 (GRCm39) |
splice site |
probably null |
|
|
R0601:Slc30a5
|
UTSW |
13 |
100,951,278 (GRCm39) |
intron |
probably benign |
|
|
R1125:Slc30a5
|
UTSW |
13 |
100,939,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Slc30a5
|
UTSW |
13 |
100,939,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1673:Slc30a5
|
UTSW |
13 |
100,949,891 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1762:Slc30a5
|
UTSW |
13 |
100,949,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Slc30a5
|
UTSW |
13 |
100,950,461 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2082:Slc30a5
|
UTSW |
13 |
100,943,041 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2151:Slc30a5
|
UTSW |
13 |
100,940,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Slc30a5
|
UTSW |
13 |
100,940,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Slc30a5
|
UTSW |
13 |
100,940,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3899:Slc30a5
|
UTSW |
13 |
100,954,655 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4009:Slc30a5
|
UTSW |
13 |
100,945,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4010:Slc30a5
|
UTSW |
13 |
100,945,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4270:Slc30a5
|
UTSW |
13 |
100,965,521 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4815:Slc30a5
|
UTSW |
13 |
100,950,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5450:Slc30a5
|
UTSW |
13 |
100,957,680 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5638:Slc30a5
|
UTSW |
13 |
100,950,380 (GRCm39) |
nonsense |
probably null |
|
|
R5892:Slc30a5
|
UTSW |
13 |
100,949,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Slc30a5
|
UTSW |
13 |
100,945,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6453:Slc30a5
|
UTSW |
13 |
100,951,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6769:Slc30a5
|
UTSW |
13 |
100,950,368 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6795:Slc30a5
|
UTSW |
13 |
100,953,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7020:Slc30a5
|
UTSW |
13 |
100,961,421 (GRCm39) |
splice site |
probably null |
|
|
R7224:Slc30a5
|
UTSW |
13 |
100,945,762 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7305:Slc30a5
|
UTSW |
13 |
100,947,932 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7318:Slc30a5
|
UTSW |
13 |
100,950,477 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7411:Slc30a5
|
UTSW |
13 |
100,954,688 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7563:Slc30a5
|
UTSW |
13 |
100,940,480 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8039:Slc30a5
|
UTSW |
13 |
100,950,189 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8061:Slc30a5
|
UTSW |
13 |
100,965,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8973:Slc30a5
|
UTSW |
13 |
100,943,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9150:Slc30a5
|
UTSW |
13 |
100,939,915 (GRCm39) |
nonsense |
probably null |
|
|
R9352:Slc30a5
|
UTSW |
13 |
100,940,380 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9359:Slc30a5
|
UTSW |
13 |
100,949,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9405:Slc30a5
|
UTSW |
13 |
100,950,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9407:Slc30a5
|
UTSW |
13 |
100,951,214 (GRCm39) |
nonsense |
probably null |
|
|
R9628:Slc30a5
|
UTSW |
13 |
100,961,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0019:Slc30a5
|
UTSW |
13 |
100,950,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGGTGGTAGTCTCAGAAG -3'
(R):5'- AACAAACTTGCTTCAAGCCATG -3'
Sequencing Primer
(F):5'- TGGTAGTCTCAGAAGTAGAACTTGAC -3'
(R):5'- AGTCTGTACTTGCAAGTCCTTGACAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation