Incidental Mutation 'R4358:Slc38a11'
| ID |
324643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a11
|
| Ensembl Gene |
ENSMUSG00000061171 |
| Gene Name |
solute carrier family 38, member 11 |
| Synonyms |
9330158F14Rik |
| MMRRC Submission |
041110-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
65146774-65194378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65188460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 103
(K103R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112420]
[ENSMUST00000152324]
|
| AlphaFold |
Q3USY0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112420
AA Change: K103R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000108039
Gene: ENSMUSG00000061171
AA Change: K103R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
32 |
420 |
1.6e-66 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124918
AA Change: K63R
|
| SMART Domains |
Protein: ENSMUSP00000120185
Gene: ENSMUSG00000061171
AA Change: K63R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
26 |
381 |
8.5e-51 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000127623
AA Change: K49R
|
| SMART Domains |
Protein: ENSMUSP00000120737
Gene: ENSMUSG00000061171
AA Change: K49R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
1 |
345 |
1.2e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145583
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152324
AA Change: K103R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000121205
Gene: ENSMUSG00000061171
AA Change: K103R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
32 |
367 |
4.8e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155422
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155962
AA Change: K100R
|
| SMART Domains |
Protein: ENSMUSP00000118837
Gene: ENSMUSG00000061171
AA Change: K100R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
30 |
204 |
1.1e-30 |
PFAM |
|
Pfam:Trp_Tyr_perm
|
31 |
201 |
3.8e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,926,663 (GRCm39) |
|
probably null |
Het |
| Chil3 |
G |
A |
3: 106,067,815 (GRCm39) |
Q117* |
probably null |
Het |
| Daglb |
T |
C |
5: 143,458,889 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,089,578 (GRCm39) |
R1163* |
probably null |
Het |
| Ftsj3 |
G |
A |
11: 106,144,502 (GRCm39) |
A134V |
probably benign |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
| Golga4 |
A |
G |
9: 118,380,946 (GRCm39) |
E507G |
probably benign |
Het |
| Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
| Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
| L3hypdh |
A |
T |
12: 72,124,198 (GRCm39) |
D247E |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,860,489 (GRCm39) |
N2999K |
probably damaging |
Het |
| Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Mcm9 |
A |
C |
10: 53,413,749 (GRCm39) |
C444G |
probably benign |
Het |
| Mecom |
G |
A |
3: 30,033,934 (GRCm39) |
Q246* |
probably null |
Het |
| Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
| Or2a7 |
T |
A |
6: 43,151,160 (GRCm39) |
M80K |
probably damaging |
Het |
| Or8g26 |
G |
A |
9: 39,095,864 (GRCm39) |
C127Y |
probably damaging |
Het |
| P3h4 |
A |
G |
11: 100,304,452 (GRCm39) |
F263S |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,260,838 (GRCm39) |
S354P |
possibly damaging |
Het |
| Pms2 |
T |
A |
5: 143,862,744 (GRCm39) |
F617Y |
probably damaging |
Het |
| Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
| Psmd13 |
G |
T |
7: 140,469,418 (GRCm39) |
|
probably benign |
Het |
| Pygl |
G |
A |
12: 70,242,464 (GRCm39) |
S573L |
probably damaging |
Het |
| Rapgef3 |
A |
G |
15: 97,646,529 (GRCm39) |
V794A |
probably benign |
Het |
| Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,315,861 (GRCm39) |
D555G |
probably damaging |
Het |
| Rptor |
G |
T |
11: 119,562,171 (GRCm39) |
E111D |
probably damaging |
Het |
| Sall4 |
T |
C |
2: 168,597,400 (GRCm39) |
E480G |
probably benign |
Het |
| Scn4a |
G |
A |
11: 106,239,683 (GRCm39) |
|
probably null |
Het |
| Scn8a |
G |
A |
15: 100,838,014 (GRCm39) |
A94T |
probably benign |
Het |
| Slc26a6 |
T |
A |
9: 108,738,982 (GRCm39) |
C636S |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,202,381 (GRCm39) |
L675P |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
| Tmem132d |
G |
A |
5: 128,061,405 (GRCm39) |
T399M |
possibly damaging |
Het |
| Zfp939 |
A |
G |
7: 39,123,144 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp951 |
T |
C |
5: 104,962,541 (GRCm39) |
K342E |
probably damaging |
Het |
|
| Other mutations in Slc38a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00668:Slc38a11
|
APN |
2 |
65,184,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01467:Slc38a11
|
APN |
2 |
65,147,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02585:Slc38a11
|
APN |
2 |
65,166,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03001:Slc38a11
|
APN |
2 |
65,184,159 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0458:Slc38a11
|
UTSW |
2 |
65,193,813 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0514:Slc38a11
|
UTSW |
2 |
65,147,209 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0815:Slc38a11
|
UTSW |
2 |
65,184,124 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1695:Slc38a11
|
UTSW |
2 |
65,147,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Slc38a11
|
UTSW |
2 |
65,180,452 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1760:Slc38a11
|
UTSW |
2 |
65,185,663 (GRCm39) |
splice site |
probably null |
|
|
R1854:Slc38a11
|
UTSW |
2 |
65,193,860 (GRCm39) |
splice site |
probably null |
|
|
R1961:Slc38a11
|
UTSW |
2 |
65,160,683 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1991:Slc38a11
|
UTSW |
2 |
65,160,683 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2046:Slc38a11
|
UTSW |
2 |
65,188,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2078:Slc38a11
|
UTSW |
2 |
65,160,728 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2103:Slc38a11
|
UTSW |
2 |
65,160,683 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3154:Slc38a11
|
UTSW |
2 |
65,160,679 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5635:Slc38a11
|
UTSW |
2 |
65,191,747 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5729:Slc38a11
|
UTSW |
2 |
65,147,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6059:Slc38a11
|
UTSW |
2 |
65,165,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Slc38a11
|
UTSW |
2 |
65,194,235 (GRCm39) |
missense |
probably benign |
|
|
R7339:Slc38a11
|
UTSW |
2 |
65,156,914 (GRCm39) |
missense |
probably benign |
|
|
R7360:Slc38a11
|
UTSW |
2 |
65,184,139 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8397:Slc38a11
|
UTSW |
2 |
65,160,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Slc38a11
|
UTSW |
2 |
65,188,484 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGTGGATGTACGCATGCC -3'
(R):5'- AGACAATTCAGTTGAAGCATGC -3'
Sequencing Primer
(F):5'- ATGTACGCATGCCTCTGTG -3'
(R):5'- TTCAGTTGAAGCATGCAAACGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation