Incidental Mutation 'R4195:Slc30a4'
| ID |
318521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc30a4
|
| Ensembl Gene |
ENSMUSG00000005802 |
| Gene Name |
solute carrier family 30 (zinc transporter), member 4 |
| Synonyms |
Znt4 |
| MMRRC Submission |
041026-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
122523153-122544583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 122527190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 401
(T401M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005952]
[ENSMUST00000099457]
|
| AlphaFold |
O35149 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005952
AA Change: T401M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005952
Gene: ENSMUSG00000005802
AA Change: T401M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
83 |
N/A |
INTRINSIC |
|
Pfam:Cation_efflux
|
114 |
333 |
1.3e-55 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099457
AA Change: T352M
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097056
Gene: ENSMUSG00000005802
AA Change: T352M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
83 |
N/A |
INTRINSIC |
|
Pfam:Cation_efflux
|
124 |
368 |
4.6e-46 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant dams produce zinc-deficient milk that is lethal to all nursing pups. Pleiotropic defects observed in mutant males and females include otolith degeneration, impaired motor coordination, alopecia, and dermatitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Actg2 |
T |
G |
6: 83,500,155 (GRCm39) |
T39P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,762,261 (GRCm39) |
E531G |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,060,426 (GRCm39) |
S661G |
probably benign |
Het |
| Apod |
T |
C |
16: 31,116,392 (GRCm39) |
M113V |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,495,911 (GRCm39) |
I171V |
possibly damaging |
Het |
| Atrn |
C |
A |
2: 130,775,332 (GRCm39) |
T145K |
probably damaging |
Het |
| Cacna1f |
A |
G |
X: 7,475,169 (GRCm39) |
H57R |
probably damaging |
Het |
| Cdhr18 |
C |
A |
14: 13,829,772 (GRCm38) |
V657L |
probably benign |
Het |
| Cldn9 |
T |
C |
17: 23,902,148 (GRCm39) |
E159G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,538,589 (GRCm39) |
H590Q |
probably benign |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Cse1l |
A |
G |
2: 166,771,899 (GRCm39) |
T387A |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Fbll1 |
A |
G |
11: 35,688,493 (GRCm39) |
S257P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,203,275 (GRCm39) |
S349P |
probably damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6569 |
C |
T |
15: 73,708,092 (GRCm39) |
P22L |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,120,096 (GRCm39) |
N314D |
probably damaging |
Het |
| Lman2l |
A |
C |
1: 36,464,022 (GRCm39) |
I266M |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,161,571 (GRCm39) |
R2074S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,180,847 (GRCm39) |
H1226Q |
probably damaging |
Het |
| Nmi |
A |
C |
2: 51,838,632 (GRCm39) |
S301A |
probably benign |
Het |
| Or11i1 |
A |
T |
3: 106,729,328 (GRCm39) |
C182* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,727,577 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,019,327 (GRCm39) |
Y59H |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,547 (GRCm39) |
|
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,134,102 (GRCm39) |
T387A |
probably benign |
Het |
|
| Other mutations in Slc30a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01524:Slc30a4
|
APN |
2 |
122,544,308 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01583:Slc30a4
|
APN |
2 |
122,527,137 (GRCm39) |
missense |
probably benign |
|
|
IGL01823:Slc30a4
|
APN |
2 |
122,544,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02086:Slc30a4
|
APN |
2 |
122,543,947 (GRCm39) |
splice site |
probably benign |
|
|
F5770:Slc30a4
|
UTSW |
2 |
122,531,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0060:Slc30a4
|
UTSW |
2 |
122,527,104 (GRCm39) |
missense |
probably benign |
|
|
R0060:Slc30a4
|
UTSW |
2 |
122,527,104 (GRCm39) |
missense |
probably benign |
|
|
R0373:Slc30a4
|
UTSW |
2 |
122,531,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0591:Slc30a4
|
UTSW |
2 |
122,527,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Slc30a4
|
UTSW |
2 |
122,531,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Slc30a4
|
UTSW |
2 |
122,527,936 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3847:Slc30a4
|
UTSW |
2 |
122,544,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4501:Slc30a4
|
UTSW |
2 |
122,527,136 (GRCm39) |
missense |
probably benign |
|
|
R5558:Slc30a4
|
UTSW |
2 |
122,528,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Slc30a4
|
UTSW |
2 |
122,531,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6393:Slc30a4
|
UTSW |
2 |
122,527,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Slc30a4
|
UTSW |
2 |
122,527,224 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9464:Slc30a4
|
UTSW |
2 |
122,527,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Slc30a4
|
UTSW |
2 |
122,536,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7580:Slc30a4
|
UTSW |
2 |
122,531,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
V7581:Slc30a4
|
UTSW |
2 |
122,531,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
V7582:Slc30a4
|
UTSW |
2 |
122,531,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
V7583:Slc30a4
|
UTSW |
2 |
122,531,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTCAGGGACTCCATTAG -3'
(R):5'- TCTGGGCTTAGAAACTGCCTTC -3'
Sequencing Primer
(F):5'- CTGTCAGGGACTCCATTAGGTTTAC -3'
(R):5'- TTCTGCAGTAGAAGGGCTTAAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation