Incidental Mutation 'R8114:Slc22a30'
| ID |
631100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
C730048C13Rik |
| MMRRC Submission |
067543-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R8114 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8312735-8382475 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 8381904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 122
(Y122*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064507]
[ENSMUST00000096269]
[ENSMUST00000120540]
|
| AlphaFold |
Q96LX3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064507
AA Change: Y122*
|
| SMART Domains |
Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562
AA Change: Y122*
| 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 null
Transcript: ENSMUST00000096269
AA Change: Y122*
|
| SMART Domains |
Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
AA Change: Y122*
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120540
AA Change: Y122*
|
| SMART Domains |
Protein: ENSMUSP00000114071
Gene: ENSMUSG00000052562
AA Change: Y122*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
99 |
435 |
1.3e-20 |
PFAM |
|
Pfam:MFS_1
|
127 |
435 |
1.5e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.7%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
G |
T |
16: 14,407,091 (GRCm39) |
E7* |
probably null |
Het |
| Abca7 |
T |
C |
10: 79,844,874 (GRCm39) |
I1532T |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,569,617 (GRCm39) |
D286G |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,741,163 (GRCm39) |
T970A |
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,083,127 (GRCm39) |
N319S |
probably damaging |
Het |
| Arih1 |
A |
G |
9: 59,303,836 (GRCm39) |
M423T |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,396,140 (GRCm39) |
Q677L |
probably damaging |
Het |
| Ccdc121rt3 |
C |
A |
5: 112,503,563 (GRCm39) |
R47L |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,614,537 (GRCm39) |
N1046S |
probably damaging |
Het |
| Ccdc63 |
G |
T |
5: 122,251,244 (GRCm39) |
Q389K |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,361,528 (GRCm39) |
S279P |
probably damaging |
Het |
| Cdcp2 |
A |
T |
4: 106,962,555 (GRCm39) |
I243F |
probably damaging |
Het |
| Cfap298 |
T |
C |
16: 90,731,545 (GRCm39) |
T22A |
probably benign |
Het |
| Cul2 |
A |
T |
18: 3,426,164 (GRCm39) |
K414* |
probably null |
Het |
| Daglb |
A |
G |
5: 143,464,218 (GRCm39) |
H243R |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,240,122 (GRCm39) |
Y493F |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Eea1 |
G |
T |
10: 95,830,851 (GRCm39) |
E171* |
probably null |
Het |
| Eml6 |
C |
T |
11: 29,704,910 (GRCm39) |
G1545R |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,365 (GRCm39) |
I2463V |
probably benign |
Het |
| Fgl1 |
A |
G |
8: 41,644,620 (GRCm39) |
Y295H |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,675,425 (GRCm39) |
T118A |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,598,906 (GRCm39) |
V30A |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,165,732 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
A |
G |
6: 121,390,458 (GRCm39) |
S338P |
unknown |
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Ldah |
A |
G |
12: 8,334,039 (GRCm39) |
E310G |
probably damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,785,563 (GRCm39) |
V65A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,098,677 (GRCm39) |
T1735K |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,215,734 (GRCm39) |
V191D |
possibly damaging |
Het |
| Oas1e |
T |
C |
5: 120,924,708 (GRCm39) |
T377A |
unknown |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or10al6 |
T |
C |
17: 38,082,880 (GRCm39) |
F112S |
possibly damaging |
Het |
| Or10v9 |
G |
A |
19: 11,832,466 (GRCm39) |
P284S |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,530 (GRCm39) |
H193Q |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,821,738 (GRCm39) |
S70G |
possibly damaging |
Het |
| Plcl2 |
T |
C |
17: 50,994,815 (GRCm39) |
S1095P |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,862,577 (GRCm39) |
K637E |
possibly damaging |
Het |
| Rbm47 |
T |
C |
5: 66,184,196 (GRCm39) |
I136V |
probably benign |
Het |
| Serpinb3c |
A |
C |
1: 107,204,034 (GRCm39) |
N59K |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,817,930 (GRCm39) |
N122Y |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,923,503 (GRCm39) |
V347A |
probably benign |
Het |
| Slc34a2 |
G |
A |
5: 53,225,701 (GRCm39) |
S450N |
probably benign |
Het |
| Snx17 |
A |
T |
5: 31,355,046 (GRCm39) |
M354L |
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Surf6 |
G |
A |
2: 26,782,380 (GRCm39) |
Q316* |
probably null |
Het |
| Tiprl |
A |
G |
1: 165,055,991 (GRCm39) |
S44P |
probably benign |
Het |
| Tmem39a |
T |
G |
16: 38,411,359 (GRCm39) |
L438R |
probably damaging |
Het |
| Tmem39a |
C |
A |
16: 38,411,358 (GRCm39) |
L438M |
probably damaging |
Het |
| Tns2 |
G |
C |
15: 102,019,825 (GRCm39) |
V572L |
probably benign |
Het |
| Trdn |
T |
C |
10: 32,959,624 (GRCm39) |
|
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,411 (GRCm39) |
I587V |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,394 (GRCm39) |
D952G |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,511,392 (GRCm39) |
N470K |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,805,097 (GRCm39) |
I5N |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Ythdc2 |
A |
G |
18: 45,010,807 (GRCm39) |
D1272G |
probably benign |
Het |
| Zfp959 |
A |
G |
17: 56,205,496 (GRCm39) |
Y511C |
probably benign |
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 |
|
|
R6327:Slc22a30
|
UTSW |
19 |
8,313,086 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
|
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'- GGCTGAATAACACTGTCTTGTCATAAC -3'
(R):5'- TGAGCCAAGATGACCTCCTG -3'
Sequencing Primer
(F):5'- CTTATTGCCATGACAAGGGACCTG -3'
(R):5'- CACAGTGGCATCTTCTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation