Incidental Mutation 'R6720:Slc39a7'
| ID |
529561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc39a7
|
| Ensembl Gene |
ENSMUSG00000024327 |
| Gene Name |
solute carrier family 39 (zinc transporter), member 7 |
| Synonyms |
KE4, Ke-4, Ring5, Zip7, H-2Ke4, H2-Ke4 |
| MMRRC Submission |
044838-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34028267-34031690 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34030108 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 269
(T269S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025186]
[ENSMUST00000044858]
[ENSMUST00000045467]
[ENSMUST00000114303]
[ENSMUST00000116612]
[ENSMUST00000169397]
[ENSMUST00000171872]
[ENSMUST00000173554]
[ENSMUST00000173354]
|
| AlphaFold |
Q31125 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025186
AA Change: T269S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000025186
Gene: ENSMUSG00000024327
AA Change: T269S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
123 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
140 |
473 |
2.4e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044858
|
| SMART Domains |
Protein: ENSMUSP00000036585
Gene: ENSMUSG00000039656
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
186 |
N/A |
INTRINSIC |
|
ZnF_C4
|
189 |
260 |
3.98e-39 |
SMART |
|
low complexity region
|
269 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
316 |
N/A |
INTRINSIC |
|
HOLI
|
328 |
491 |
1.91e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045467
|
| SMART Domains |
Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
10 |
201 |
1.5e-16 |
PFAM |
|
Pfam:adh_short
|
10 |
213 |
4.5e-52 |
PFAM |
|
Pfam:adh_short_C2
|
16 |
258 |
8.6e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114303
|
| SMART Domains |
Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
10 |
202 |
5.5e-16 |
PFAM |
|
Pfam:adh_short
|
22 |
193 |
2.7e-30 |
PFAM |
|
Pfam:adh_short_C2
|
23 |
234 |
1.4e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116612
|
| SMART Domains |
Protein: ENSMUSP00000112311
Gene: ENSMUSG00000039656
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nuc_recep-AF1
|
2 |
76 |
4.3e-10 |
PFAM |
|
ZnF_C4
|
79 |
150 |
3.98e-39 |
SMART |
|
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
HOLI
|
218 |
377 |
1.35e-50 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169397
AA Change: T269S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000130102
Gene: ENSMUSG00000024327
AA Change: T269S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
123 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
140 |
473 |
1.9e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171872
|
| SMART Domains |
Protein: ENSMUSP00000133146
Gene: ENSMUSG00000024327
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
123 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
140 |
246 |
4.7e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173425
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174299
|
| SMART Domains |
Protein: ENSMUSP00000133775
Gene: ENSMUSG00000039656
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
117 |
N/A |
INTRINSIC |
|
ZnF_C4
|
120 |
191 |
3.98e-39 |
SMART |
|
low complexity region
|
200 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
|
HOLI
|
259 |
418 |
1.35e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173554
|
| SMART Domains |
Protein: ENSMUSP00000134299
Gene: ENSMUSG00000039656
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nuc_recep-AF1
|
2 |
76 |
4.9e-11 |
PFAM |
|
ZnF_C4
|
79 |
150 |
3.98e-39 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173354
|
| SMART Domains |
Protein: ENSMUSP00000133661
Gene: ENSMUSG00000039656
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nuc_recep-AF1
|
2 |
76 |
4.3e-10 |
PFAM |
|
ZnF_C4
|
79 |
150 |
3.98e-39 |
SMART |
|
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
HOLI
|
218 |
381 |
1.91e-50 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173616
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174399
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of the encoded protein could be useful as a therapeutic agent against cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a conditional allele activated in intestinal epithelial cells exhibit premature death, loss of epithelial integrity, reduced enterocyte proliferation and increased enterocyte apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
G |
A |
4: 137,454,686 (GRCm38) |
E51K |
possibly damaging |
Het |
| Abca1 |
A |
C |
4: 53,083,733 (GRCm38) |
L700R |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,101,222 (GRCm38) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,924,890 (GRCm38) |
P241Q |
probably damaging |
Het |
| Cd6 |
T |
A |
19: 10,794,609 (GRCm38) |
T414S |
probably benign |
Het |
| Ces2b |
A |
T |
8: 104,836,869 (GRCm38) |
E409D |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,821,119 (GRCm38) |
Y3024H |
probably benign |
Het |
| Chrm1 |
A |
G |
19: 8,678,548 (GRCm38) |
T206A |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,618,516 (GRCm38) |
W512R |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,247,552 (GRCm38) |
|
probably null |
Het |
| Cox15 |
A |
G |
19: 43,736,789 (GRCm38) |
S392P |
probably damaging |
Het |
| Cr2 |
T |
C |
1: 195,155,200 (GRCm38) |
M1197V |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,000,689 (GRCm38) |
K1281E |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,045,646 (GRCm38) |
F2094L |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,102,959 (GRCm38) |
C25S |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,140,264 (GRCm38) |
D802G |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,838,623 (GRCm38) |
Q84* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 138,175,832 (GRCm38) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,657,502 (GRCm38) |
D866G |
probably damaging |
Het |
| Fam129b |
T |
A |
2: 32,905,826 (GRCm38) |
V22D |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,472,497 (GRCm38) |
M99T |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,932,720 (GRCm38) |
S138C |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 83,013,832 (GRCm38) |
S211R |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 35,807,576 (GRCm38) |
R1517Q |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,802,304 (GRCm38) |
I27M |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,442,678 (GRCm38) |
E299G |
probably benign |
Het |
| Hao2 |
T |
G |
3: 98,877,135 (GRCm38) |
I305L |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,307,381 (GRCm38) |
Q122* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,164,284 (GRCm38) |
C2079S |
probably damaging |
Het |
| Hoxb1 |
C |
A |
11: 96,366,987 (GRCm38) |
Q248K |
probably damaging |
Het |
| Hspb6 |
A |
G |
7: 30,554,347 (GRCm38) |
D95G |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,578,506 (GRCm38) |
R117S |
probably damaging |
Het |
| Ino80d |
A |
C |
1: 63,058,610 (GRCm38) |
S708R |
probably damaging |
Het |
| Lman1l |
A |
G |
9: 57,614,072 (GRCm38) |
|
probably null |
Het |
| Mmp15 |
A |
G |
8: 95,365,314 (GRCm38) |
N51D |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,423,077 (GRCm38) |
M1140V |
probably benign |
Het |
| Olfr1053 |
A |
G |
2: 86,315,065 (GRCm38) |
S74P |
probably damaging |
Het |
| Olfr1373 |
A |
G |
11: 52,144,693 (GRCm38) |
V279A |
probably benign |
Het |
| Olfr397 |
A |
G |
11: 73,965,465 (GRCm38) |
N286D |
probably damaging |
Het |
| Olfr890 |
T |
A |
9: 38,143,153 (GRCm38) |
M1K |
probably null |
Het |
| Pard3b |
A |
T |
1: 62,159,470 (GRCm38) |
N239I |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,297,979 (GRCm38) |
R237W |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 36,998,069 (GRCm38) |
S64P |
probably damaging |
Het |
| Pdcd1 |
T |
C |
1: 94,041,389 (GRCm38) |
N68S |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,326,052 (GRCm38) |
|
probably null |
Het |
| Plekha4 |
A |
T |
7: 45,540,886 (GRCm38) |
D359V |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,994,062 (GRCm38) |
I78V |
probably benign |
Het |
| Sltm |
T |
G |
9: 70,573,710 (GRCm38) |
D281E |
probably damaging |
Het |
| Zfp708 |
T |
C |
13: 67,071,432 (GRCm38) |
Y76C |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,536,927 (GRCm38) |
V165D |
possibly damaging |
Het |
|
| Other mutations in Slc39a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02004:Slc39a7
|
APN |
17 |
34,031,121 (GRCm38) |
unclassified |
probably benign |
|
|
R0313:Slc39a7
|
UTSW |
17 |
34,029,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0326:Slc39a7
|
UTSW |
17 |
34,028,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0496:Slc39a7
|
UTSW |
17 |
34,029,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1812:Slc39a7
|
UTSW |
17 |
34,028,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2276:Slc39a7
|
UTSW |
17 |
34,031,267 (GRCm38) |
unclassified |
probably benign |
|
|
R5065:Slc39a7
|
UTSW |
17 |
34,031,059 (GRCm38) |
unclassified |
probably benign |
|
|
R5753:Slc39a7
|
UTSW |
17 |
34,030,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7664:Slc39a7
|
UTSW |
17 |
34,029,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8302:Slc39a7
|
UTSW |
17 |
34,030,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8372:Slc39a7
|
UTSW |
17 |
34,030,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8929:Slc39a7
|
UTSW |
17 |
34,030,990 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCTGGGCCCAGTGTTTC -3'
(R):5'- ACACTTGAGTCTGCGTCTC -3'
Sequencing Primer
(F):5'- GGGCCCAGTGTTTCCTCCTC -3'
(R):5'- GAGTCTGCGTCTCCCTTCATG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation