Incidental Mutation 'R5706:Slc22a30'
| ID |
451998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
|
| MMRRC Submission |
043331-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5706 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8335371-8405111 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 8344393 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 436
(Q436*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064507]
[ENSMUST00000096269]
[ENSMUST00000120540]
|
| AlphaFold |
Q96LX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064507
|
| SMART Domains |
Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120540
AA Change: Q436*
|
| SMART Domains |
Protein: ENSMUSP00000114071
Gene: ENSMUSG00000052562
AA Change: Q436*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 122,054,261 (GRCm38) |
M77K |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,556,120 (GRCm38) |
V467A |
probably damaging |
Het |
| Atf4 |
T |
C |
15: 80,256,330 (GRCm38) |
V11A |
possibly damaging |
Het |
| B4galt1 |
T |
C |
4: 40,807,268 (GRCm38) |
N373D |
probably damaging |
Het |
| Bpifa3 |
A |
G |
2: 154,135,578 (GRCm38) |
K112R |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,491,357 (GRCm38) |
Y596F |
possibly damaging |
Het |
| Clspn |
T |
C |
4: 126,578,418 (GRCm38) |
S962P |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,734,318 (GRCm38) |
D262G |
possibly damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,565,695 (GRCm38) |
I282T |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,957,395 (GRCm38) |
|
probably null |
Het |
| Dnah11 |
T |
G |
12: 118,023,935 (GRCm38) |
K2411Q |
probably damaging |
Het |
| Elf3 |
A |
G |
1: 135,256,482 (GRCm38) |
V196A |
probably benign |
Het |
| Fhad1 |
T |
G |
4: 141,954,116 (GRCm38) |
T538P |
probably damaging |
Het |
| Fkbp10 |
A |
G |
11: 100,421,023 (GRCm38) |
D174G |
probably damaging |
Het |
| Gas6 |
A |
G |
8: 13,477,098 (GRCm38) |
S217P |
probably damaging |
Het |
| Gm4778 |
T |
A |
3: 94,266,652 (GRCm38) |
H322Q |
possibly damaging |
Het |
| Heatr5b |
C |
T |
17: 78,766,875 (GRCm38) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,115,908 (GRCm38) |
E502G |
probably benign |
Het |
| Klc1 |
T |
C |
12: 111,795,627 (GRCm38) |
V577A |
possibly damaging |
Het |
| Lck |
T |
C |
4: 129,551,638 (GRCm38) |
|
probably null |
Het |
| Mc3r |
C |
A |
2: 172,249,690 (GRCm38) |
Y277* |
probably null |
Het |
| Mlxipl |
T |
C |
5: 135,133,604 (GRCm38) |
V640A |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,332,343 (GRCm38) |
N471Y |
probably damaging |
Het |
| Ncan |
T |
A |
8: 70,102,017 (GRCm38) |
H1050L |
probably damaging |
Het |
| Nrl |
C |
A |
14: 55,522,432 (GRCm38) |
V13F |
probably damaging |
Het |
| Obscn |
T |
A |
11: 59,076,256 (GRCm38) |
Y546F |
probably damaging |
Het |
| Olfr214 |
A |
G |
6: 116,557,113 (GRCm38) |
I229M |
probably damaging |
Het |
| Olfr654 |
T |
G |
7: 104,587,890 (GRCm38) |
S46A |
probably benign |
Het |
| Olfr799 |
A |
G |
10: 129,648,091 (GRCm38) |
|
probably null |
Het |
| Pde3b |
G |
A |
7: 114,521,692 (GRCm38) |
G684D |
probably damaging |
Het |
| Prkaa1 |
C |
T |
15: 5,174,342 (GRCm38) |
T244I |
probably benign |
Het |
| Scfd2 |
A |
T |
5: 74,206,398 (GRCm38) |
|
probably null |
Het |
| Smg1 |
A |
T |
7: 118,145,590 (GRCm38) |
V3113D |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,376,881 (GRCm38) |
T153A |
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,870,289 (GRCm38) |
T182A |
probably benign |
Het |
| Svs2 |
T |
C |
2: 164,237,669 (GRCm38) |
K106R |
possibly damaging |
Het |
| Tenm1 |
A |
G |
X: 43,074,695 (GRCm38) |
V107A |
possibly damaging |
Het |
| Topaz1 |
A |
T |
9: 122,799,485 (GRCm38) |
I1546F |
possibly damaging |
Het |
| Tubgcp2 |
C |
A |
7: 140,032,225 (GRCm38) |
E78* |
probably null |
Het |
| Vars |
A |
G |
17: 35,005,481 (GRCm38) |
|
probably null |
Het |
| Vmn2r109 |
A |
T |
17: 20,554,305 (GRCm38) |
W263R |
probably benign |
Het |
|
| Other mutations in Slc22a30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Slc22a30
|
APN |
19 |
8,335,788 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL01894:Slc22a30
|
APN |
19 |
8,386,657 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL02795:Slc22a30
|
APN |
19 |
8,400,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02798:Slc22a30
|
APN |
19 |
8,370,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03267:Slc22a30
|
APN |
19 |
8,337,958 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0089:Slc22a30
|
UTSW |
19 |
8,370,197 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0243:Slc22a30
|
UTSW |
19 |
8,345,357 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1033:Slc22a30
|
UTSW |
19 |
8,335,801 (GRCm38) |
nonsense |
probably null |
|
|
R1781:Slc22a30
|
UTSW |
19 |
8,335,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2098:Slc22a30
|
UTSW |
19 |
8,400,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3874:Slc22a30
|
UTSW |
19 |
8,336,849 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4091:Slc22a30
|
UTSW |
19 |
8,404,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4799:Slc22a30
|
UTSW |
19 |
8,344,404 (GRCm38) |
missense |
probably benign |
|
|
R5108:Slc22a30
|
UTSW |
19 |
8,386,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5191:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5192:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5193:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5195:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5253:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5254:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5255:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5256:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5377:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5378:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5400:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5401:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5481:Slc22a30
|
UTSW |
19 |
8,336,837 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5644:Slc22a30
|
UTSW |
19 |
8,404,616 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R5679:Slc22a30
|
UTSW |
19 |
8,335,771 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5699:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5704:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5767:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5770:Slc22a30
|
UTSW |
19 |
8,386,527 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5784:Slc22a30
|
UTSW |
19 |
8,344,393 (GRCm38) |
nonsense |
probably null |
|
|
R5793:Slc22a30
|
UTSW |
19 |
8,336,819 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5813:Slc22a30
|
UTSW |
19 |
8,404,581 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6101:Slc22a30
|
UTSW |
19 |
8,337,868 (GRCm38) |
splice site |
probably null |
|
|
R6105:Slc22a30
|
UTSW |
19 |
8,337,868 (GRCm38) |
splice site |
probably null |
|
|
R6327:Slc22a30
|
UTSW |
19 |
8,335,722 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6958:Slc22a30
|
UTSW |
19 |
8,386,701 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7162:Slc22a30
|
UTSW |
19 |
8,336,717 (GRCm38) |
splice site |
probably null |
|
|
R7375:Slc22a30
|
UTSW |
19 |
8,404,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7572:Slc22a30
|
UTSW |
19 |
8,335,708 (GRCm38) |
missense |
unknown |
|
|
R7755:Slc22a30
|
UTSW |
19 |
8,336,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8114:Slc22a30
|
UTSW |
19 |
8,404,540 (GRCm38) |
nonsense |
probably null |
|
|
R8248:Slc22a30
|
UTSW |
19 |
8,370,199 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8677:Slc22a30
|
UTSW |
19 |
8,386,671 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8854:Slc22a30
|
UTSW |
19 |
8,386,390 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8900:Slc22a30
|
UTSW |
19 |
8,337,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9185:Slc22a30
|
UTSW |
19 |
8,344,553 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9296:Slc22a30
|
UTSW |
19 |
8,386,755 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9463:Slc22a30
|
UTSW |
19 |
8,400,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9773:Slc22a30
|
UTSW |
19 |
8,344,390 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1088:Slc22a30
|
UTSW |
19 |
8,335,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGATTAACAACCCAACTGGC -3'
(R):5'- CTGGTTCTCATGTCCCTGAG -3'
Sequencing Primer
(F):5'- GGCATACATAGTACATACAGTTAGTC -3'
(R):5'- CCTCAAGGTAAGGAAAGAGT -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation