Incidental Mutation 'R4184:Slc15a1'
| ID |
319885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc15a1
|
| Ensembl Gene |
ENSMUSG00000025557 |
| Gene Name |
solute carrier family 15 (oligopeptide transporter), member 1 |
| Synonyms |
PECT1, PEPT1 |
| MMRRC Submission |
041020-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R4184 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
121697033-121742664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121703574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 512
(T512I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088386]
|
| AlphaFold |
Q9JIP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088386
AA Change: T512I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: T512I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTR2
|
81 |
477 |
1.9e-141 |
PFAM |
|
Pfam:PTR2
|
562 |
644 |
4.2e-11 |
PFAM |
|
transmembrane domain
|
650 |
672 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
695 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227372
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (55/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010]
PHENOTYPE: Peptide uptake in the intestine is substantially reduced in mice homozygous for a null mutation of this gene. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
A |
T |
7: 143,447,858 (GRCm39) |
K234* |
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,157,841 (GRCm39) |
L539P |
probably damaging |
Het |
| Cd5 |
T |
A |
19: 10,698,638 (GRCm39) |
N423I |
probably damaging |
Het |
| Ceacam20 |
C |
T |
7: 19,710,041 (GRCm39) |
T355I |
probably damaging |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Cln8 |
T |
C |
8: 14,945,030 (GRCm39) |
F115L |
probably benign |
Het |
| Cpne9 |
T |
A |
6: 113,259,418 (GRCm39) |
|
probably benign |
Het |
| Cyp4a32 |
C |
T |
4: 115,478,720 (GRCm39) |
T484I |
possibly damaging |
Het |
| Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,682,516 (GRCm39) |
D270G |
probably damaging |
Het |
| Epc1 |
T |
C |
18: 6,453,578 (GRCm39) |
E249G |
possibly damaging |
Het |
| Fsbp |
T |
A |
4: 11,584,058 (GRCm39) |
N252K |
probably benign |
Het |
| Gramd1a |
C |
A |
7: 30,831,940 (GRCm39) |
|
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,227,152 (GRCm39) |
V2174M |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,352,445 (GRCm39) |
L204P |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,125,911 (GRCm39) |
E628G |
probably benign |
Het |
| Klhl36 |
T |
C |
8: 120,601,124 (GRCm39) |
M381T |
probably damaging |
Het |
| Kpna3 |
A |
T |
14: 61,605,624 (GRCm39) |
Y474N |
probably damaging |
Het |
| Lsm8 |
G |
T |
6: 18,849,604 (GRCm39) |
|
probably benign |
Het |
| Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
| Mbd2 |
T |
A |
18: 70,751,050 (GRCm39) |
C362S |
probably damaging |
Het |
| Mex3b |
A |
G |
7: 82,519,238 (GRCm39) |
R518G |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,357,866 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,748,613 (GRCm39) |
S1996P |
probably damaging |
Het |
| Or11g7 |
A |
G |
14: 50,690,827 (GRCm39) |
Y106C |
probably damaging |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
| Otop2 |
T |
A |
11: 115,220,671 (GRCm39) |
C504S |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,279,501 (GRCm39) |
H2939L |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,633,910 (GRCm39) |
V542M |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,455,302 (GRCm39) |
T4021I |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,263,409 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,650 (GRCm39) |
Y517F |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,571,300 (GRCm39) |
M1T |
probably null |
Het |
| Rdx |
C |
A |
9: 51,978,680 (GRCm39) |
L163M |
probably damaging |
Het |
| Reep6 |
A |
G |
10: 80,169,648 (GRCm39) |
Y112C |
probably damaging |
Het |
| Rpp21 |
A |
G |
17: 36,568,611 (GRCm39) |
|
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,393 (GRCm39) |
C4480S |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,119,962 (GRCm39) |
C170* |
probably null |
Het |
| Slc26a2 |
C |
T |
18: 61,331,904 (GRCm39) |
R509K |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,147,786 (GRCm39) |
|
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,266,834 (GRCm39) |
|
probably benign |
Het |
| Tbc1d32 |
T |
A |
10: 56,100,676 (GRCm39) |
T101S |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,850,990 (GRCm39) |
T23A |
probably benign |
Het |
| Vmn1r52 |
T |
G |
6: 90,156,219 (GRCm39) |
F174L |
probably benign |
Het |
| Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
| Zfpl1 |
A |
G |
19: 6,131,170 (GRCm39) |
L274P |
probably damaging |
Het |
|
| Other mutations in Slc15a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01337:Slc15a1
|
APN |
14 |
121,698,091 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01534:Slc15a1
|
APN |
14 |
121,702,364 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01783:Slc15a1
|
APN |
14 |
121,708,688 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01799:Slc15a1
|
APN |
14 |
121,718,141 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02064:Slc15a1
|
APN |
14 |
121,699,886 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02064:Slc15a1
|
APN |
14 |
121,699,911 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02115:Slc15a1
|
APN |
14 |
121,718,073 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02514:Slc15a1
|
APN |
14 |
121,724,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03056:Slc15a1
|
APN |
14 |
121,728,695 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03297:Slc15a1
|
APN |
14 |
121,724,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Slc15a1
|
UTSW |
14 |
121,728,651 (GRCm39) |
nonsense |
probably null |
|
|
R1532:Slc15a1
|
UTSW |
14 |
121,713,396 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1655:Slc15a1
|
UTSW |
14 |
121,703,311 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2013:Slc15a1
|
UTSW |
14 |
121,713,399 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2270:Slc15a1
|
UTSW |
14 |
121,717,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2878:Slc15a1
|
UTSW |
14 |
121,703,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2986:Slc15a1
|
UTSW |
14 |
121,727,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3862:Slc15a1
|
UTSW |
14 |
121,722,269 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3863:Slc15a1
|
UTSW |
14 |
121,722,269 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3978:Slc15a1
|
UTSW |
14 |
121,727,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4573:Slc15a1
|
UTSW |
14 |
121,724,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4604:Slc15a1
|
UTSW |
14 |
121,727,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Slc15a1
|
UTSW |
14 |
121,715,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5838:Slc15a1
|
UTSW |
14 |
121,722,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6221:Slc15a1
|
UTSW |
14 |
121,702,316 (GRCm39) |
missense |
probably null |
1.00 |
|
R6891:Slc15a1
|
UTSW |
14 |
121,713,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7626:Slc15a1
|
UTSW |
14 |
121,713,377 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7836:Slc15a1
|
UTSW |
14 |
121,718,145 (GRCm39) |
nonsense |
probably null |
|
|
R8284:Slc15a1
|
UTSW |
14 |
121,727,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8376:Slc15a1
|
UTSW |
14 |
121,718,115 (GRCm39) |
missense |
probably benign |
|
|
R8408:Slc15a1
|
UTSW |
14 |
121,715,528 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8774:Slc15a1
|
UTSW |
14 |
121,724,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Slc15a1
|
UTSW |
14 |
121,724,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Slc15a1
|
UTSW |
14 |
121,724,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9157:Slc15a1
|
UTSW |
14 |
121,702,389 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1088:Slc15a1
|
UTSW |
14 |
121,728,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Slc15a1
|
UTSW |
14 |
121,717,466 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTATACGCGCTGCCAAAGTC -3'
(R):5'- GGTAGCTAATTTTGCCTCTAGACC -3'
Sequencing Primer
(F):5'- ATCAGTTAGACAGGTTGGTGCCAC -3'
(R):5'- TAGACCCTAAGAATCTCCCGTGTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation