Incidental Mutation 'R6327:Slc22a30'
| ID |
510496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
C730048C13Rik |
| MMRRC Submission |
044481-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8312735-8382475 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to G
at 8313086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064507]
[ENSMUST00000096269]
|
| AlphaFold |
Q96LX3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000064507
AA Change: N462T
|
| SMART Domains |
Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562
AA Change: N462T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
99 |
439 |
3.1e-21 |
PFAM |
|
Pfam:MFS_1
|
127 |
433 |
8.8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096269
|
| SMART Domains |
Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
99 |
527 |
9.6e-27 |
PFAM |
|
Pfam:MFS_1
|
140 |
376 |
1.2e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,535,655 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,969,774 (GRCm39) |
H383Q |
probably damaging |
Het |
| C2 |
C |
A |
17: 35,083,079 (GRCm39) |
A431S |
probably benign |
Het |
| C3ar1 |
C |
T |
6: 122,827,105 (GRCm39) |
V371M |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Ckap2l |
A |
G |
2: 129,127,414 (GRCm39) |
S255P |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,436,558 (GRCm39) |
I842F |
probably benign |
Het |
| Cmc2 |
G |
T |
8: 117,620,896 (GRCm39) |
H28Q |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,262,291 (GRCm39) |
P176L |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,744,783 (GRCm39) |
D1404G |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,382,190 (GRCm39) |
P506S |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,672,927 (GRCm39) |
M866T |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,348,375 (GRCm39) |
I451T |
possibly damaging |
Het |
| Fosb |
T |
C |
7: 19,041,152 (GRCm39) |
T114A |
probably benign |
Het |
| Foxd4 |
T |
A |
19: 24,878,198 (GRCm39) |
M1L |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,108 (GRCm39) |
I723N |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Hdlbp |
A |
G |
1: 93,357,186 (GRCm39) |
S299P |
possibly damaging |
Het |
| Mast4 |
G |
A |
13: 102,897,890 (GRCm39) |
R650C |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,819,238 (GRCm39) |
T306A |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,755,613 (GRCm39) |
Q259R |
possibly damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,642,325 (GRCm39) |
N31S |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,893,444 (GRCm39) |
|
probably benign |
Het |
| Nudt17 |
T |
C |
3: 96,615,080 (GRCm39) |
|
probably benign |
Het |
| Oprm1 |
A |
C |
10: 6,780,063 (GRCm39) |
I242L |
probably damaging |
Het |
| Or13a26 |
T |
C |
7: 140,284,616 (GRCm39) |
W151R |
probably damaging |
Het |
| Or14c39 |
T |
C |
7: 86,343,760 (GRCm39) |
V32A |
probably benign |
Het |
| Or2y1d |
A |
C |
11: 49,321,828 (GRCm39) |
H175P |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,826,496 (GRCm39) |
|
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,519 (GRCm39) |
D606V |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,308,817 (GRCm39) |
|
probably benign |
Het |
| Pom121l2 |
T |
C |
13: 22,166,502 (GRCm39) |
S258P |
probably damaging |
Het |
| Rcsd1 |
T |
A |
1: 165,483,403 (GRCm39) |
D196V |
possibly damaging |
Het |
| Sbf2 |
C |
T |
7: 110,040,759 (GRCm39) |
R356Q |
probably damaging |
Het |
| Serpinf1 |
A |
G |
11: 75,304,731 (GRCm39) |
|
probably null |
Het |
| Strn4 |
G |
T |
7: 16,550,384 (GRCm39) |
S36I |
probably benign |
Het |
| Taar6 |
A |
G |
10: 23,861,177 (GRCm39) |
L123P |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 117,943,137 (GRCm39) |
R5L |
unknown |
Het |
| Timp3 |
T |
C |
10: 86,181,650 (GRCm39) |
Y174H |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,768,061 (GRCm39) |
V813M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,852,951 (GRCm39) |
S670T |
probably damaging |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,651 (GRCm39) |
N194K |
possibly damaging |
Het |
|
| Other mutations in Slc22a30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Slc22a30
|
APN |
19 |
8,313,152 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01894:Slc22a30
|
APN |
19 |
8,364,021 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02795:Slc22a30
|
APN |
19 |
8,378,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02798:Slc22a30
|
APN |
19 |
8,347,449 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03267:Slc22a30
|
APN |
19 |
8,315,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0089:Slc22a30
|
UTSW |
19 |
8,347,561 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0243:Slc22a30
|
UTSW |
19 |
8,322,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1033:Slc22a30
|
UTSW |
19 |
8,313,165 (GRCm39) |
nonsense |
probably null |
|
|
R1781:Slc22a30
|
UTSW |
19 |
8,313,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2098:Slc22a30
|
UTSW |
19 |
8,378,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Slc22a30
|
UTSW |
19 |
8,314,213 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4091:Slc22a30
|
UTSW |
19 |
8,381,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Slc22a30
|
UTSW |
19 |
8,321,768 (GRCm39) |
missense |
probably benign |
|
|
R5108:Slc22a30
|
UTSW |
19 |
8,363,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5192:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5193:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5195:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5253:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5254:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5255:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5256:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5377:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5378:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5400:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5401:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5481:Slc22a30
|
UTSW |
19 |
8,314,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5644:Slc22a30
|
UTSW |
19 |
8,381,980 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5679:Slc22a30
|
UTSW |
19 |
8,313,135 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5699:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5704:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5706:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5767:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5770:Slc22a30
|
UTSW |
19 |
8,363,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5784:Slc22a30
|
UTSW |
19 |
8,321,757 (GRCm39) |
nonsense |
probably null |
|
|
R5793:Slc22a30
|
UTSW |
19 |
8,314,183 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5813:Slc22a30
|
UTSW |
19 |
8,381,945 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6101:Slc22a30
|
UTSW |
19 |
8,315,232 (GRCm39) |
splice site |
probably null |
|
|
R6105:Slc22a30
|
UTSW |
19 |
8,315,232 (GRCm39) |
splice site |
probably null |
|
|
R6958:Slc22a30
|
UTSW |
19 |
8,364,065 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7162:Slc22a30
|
UTSW |
19 |
8,314,081 (GRCm39) |
splice site |
probably null |
|
|
R7375:Slc22a30
|
UTSW |
19 |
8,382,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Slc22a30
|
UTSW |
19 |
8,313,072 (GRCm39) |
missense |
unknown |
|
|
R7755:Slc22a30
|
UTSW |
19 |
8,314,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Slc22a30
|
UTSW |
19 |
8,381,904 (GRCm39) |
nonsense |
probably null |
|
|
R8248:Slc22a30
|
UTSW |
19 |
8,347,563 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8677:Slc22a30
|
UTSW |
19 |
8,364,035 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8854:Slc22a30
|
UTSW |
19 |
8,363,754 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8900:Slc22a30
|
UTSW |
19 |
8,315,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9185:Slc22a30
|
UTSW |
19 |
8,321,917 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9296:Slc22a30
|
UTSW |
19 |
8,364,119 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9463:Slc22a30
|
UTSW |
19 |
8,378,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9773:Slc22a30
|
UTSW |
19 |
8,321,754 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Slc22a30
|
UTSW |
19 |
8,313,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCAAGCAGGATTTCTTTCCATG -3'
(R):5'- CATTGTTTCAAAGGTGATGGGTGAAAG -3'
Sequencing Primer
(F):5'- GCAGGATTTCTTTCCATGTACTTTTC -3'
(R):5'- GTCCTAGTTGGAAAGAGTCA -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation