Incidental Mutation 'R0798:Slc39a11'
| ID |
76496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc39a11
|
| Ensembl Gene |
ENSMUSG00000041654 |
| Gene Name |
solute carrier family 39 (metal ion transporter), member 11 |
| Synonyms |
1810074D23Rik |
| MMRRC Submission |
038978-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R0798 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
113135679-113540905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 113414330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 90
(A90T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042657]
[ENSMUST00000071539]
[ENSMUST00000106633]
[ENSMUST00000125890]
[ENSMUST00000146031]
[ENSMUST00000149034]
|
| AlphaFold |
Q8BWY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042657
AA Change: A90T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000037331
Gene: ENSMUSG00000041654
AA Change: A90T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zip
|
8 |
366 |
1.8e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071539
AA Change: A90T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000071469
Gene: ENSMUSG00000041654
AA Change: A90T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zip
|
8 |
331 |
2.2e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106633
AA Change: A90T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102244
Gene: ENSMUSG00000041654
AA Change: A90T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zip
|
7 |
338 |
3.6e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125890
AA Change: A90T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000115472
Gene: ENSMUSG00000041654
AA Change: A90T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zip
|
7 |
200 |
3.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146031
|
| SMART Domains |
Protein: ENSMUSP00000121286
Gene: ENSMUSG00000041654
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149034
AA Change: A90T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000120929
Gene: ENSMUSG00000041654
AA Change: A90T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
95 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1419 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4930579C12Rik |
T |
A |
9: 89,034,880 (GRCm39) |
|
noncoding transcript |
Het |
| Baz2a |
T |
A |
10: 127,962,192 (GRCm39) |
|
probably benign |
Het |
| Bcar3 |
T |
C |
3: 122,318,948 (GRCm39) |
V695A |
probably benign |
Het |
| C130074G19Rik |
G |
A |
1: 184,614,873 (GRCm39) |
|
probably benign |
Het |
| Cmas |
T |
C |
6: 142,710,382 (GRCm39) |
V167A |
probably damaging |
Het |
| Crppa |
G |
A |
12: 36,571,998 (GRCm39) |
R302H |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,343 (GRCm39) |
E234G |
probably damaging |
Het |
| Gopc |
C |
T |
10: 52,234,907 (GRCm39) |
G79S |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,785,431 (GRCm39) |
|
probably null |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kcnq5 |
A |
G |
1: 22,031,399 (GRCm39) |
|
probably null |
Het |
| Lpp |
G |
T |
16: 24,790,622 (GRCm39) |
G29* |
probably null |
Het |
| Ly6g6e |
T |
C |
17: 35,297,017 (GRCm39) |
F86S |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,165,266 (GRCm39) |
F358S |
probably damaging |
Het |
| Nlgn1 |
A |
G |
3: 25,488,410 (GRCm39) |
Y613H |
probably benign |
Het |
| Or4k38 |
T |
C |
2: 111,165,689 (GRCm39) |
I245V |
probably benign |
Het |
| Or7e178 |
A |
T |
9: 20,225,495 (GRCm39) |
Y232* |
probably null |
Het |
| Plekhn1 |
T |
A |
4: 156,312,720 (GRCm39) |
D46V |
probably damaging |
Het |
| Ptp4a1 |
A |
T |
1: 30,984,005 (GRCm39) |
|
probably benign |
Het |
| Rab23 |
A |
T |
1: 33,773,908 (GRCm39) |
I123F |
probably damaging |
Het |
| Samd4b |
G |
A |
7: 28,101,048 (GRCm39) |
|
probably benign |
Het |
| Shisa4 |
G |
A |
1: 135,300,886 (GRCm39) |
|
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,397,024 (GRCm39) |
Y788H |
probably damaging |
Het |
| Tasor |
T |
A |
14: 27,198,593 (GRCm39) |
F1308L |
probably damaging |
Het |
| Tial1 |
C |
T |
7: 128,045,602 (GRCm39) |
M327I |
probably benign |
Het |
| Ubr2 |
C |
T |
17: 47,280,102 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
T |
C |
8: 107,648,858 (GRCm39) |
S630P |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 23,067,868 (GRCm39) |
N155S |
probably damaging |
Het |
| Zmym6 |
C |
T |
4: 126,997,316 (GRCm39) |
P312S |
probably benign |
Het |
|
| Other mutations in Slc39a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0011:Slc39a11
|
UTSW |
11 |
113,138,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0614:Slc39a11
|
UTSW |
11 |
113,414,452 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0621:Slc39a11
|
UTSW |
11 |
113,354,905 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0959:Slc39a11
|
UTSW |
11 |
113,354,899 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1386:Slc39a11
|
UTSW |
11 |
113,138,550 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1533:Slc39a11
|
UTSW |
11 |
113,196,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1576:Slc39a11
|
UTSW |
11 |
113,450,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2074:Slc39a11
|
UTSW |
11 |
113,354,800 (GRCm39) |
missense |
probably null |
0.98 |
|
R2127:Slc39a11
|
UTSW |
11 |
113,260,629 (GRCm39) |
missense |
probably benign |
|
|
R2218:Slc39a11
|
UTSW |
11 |
113,450,376 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6259:Slc39a11
|
UTSW |
11 |
113,354,780 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7420:Slc39a11
|
UTSW |
11 |
113,138,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7440:Slc39a11
|
UTSW |
11 |
113,452,918 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7447:Slc39a11
|
UTSW |
11 |
113,452,849 (GRCm39) |
missense |
probably benign |
|
|
R7805:Slc39a11
|
UTSW |
11 |
113,482,781 (GRCm39) |
splice site |
probably null |
|
|
R8557:Slc39a11
|
UTSW |
11 |
113,141,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9346:Slc39a11
|
UTSW |
11 |
113,414,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc39a11
|
UTSW |
11 |
113,141,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTAGTCATGCCAACAGGCGAG -3'
(R):5'- GAGTTAAGCGTTGTTCCCCTACCC -3'
Sequencing Primer
(F):5'- GTACTTTCTTGATGGAAGGAATCACC -3'
(R):5'- TACCCCAAAAAGCCTTATGGTTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation