Incidental Mutation 'R5699:Slc22a30'
| ID |
446597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
C730048C13Rik |
| MMRRC Submission |
043327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5699 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8312735-8382475 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 8321757 bp (GRCm39)
|
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
A |
G |
9: 8,225,320 (GRCm39) |
|
noncoding transcript |
Het |
| 4930486L24Rik |
A |
G |
13: 61,001,410 (GRCm39) |
F106L |
possibly damaging |
Het |
| Adam11 |
A |
T |
11: 102,664,466 (GRCm39) |
M385L |
probably benign |
Het |
| Adgre1 |
C |
T |
17: 57,788,007 (GRCm39) |
P925S |
probably benign |
Het |
| Adh7 |
G |
A |
3: 137,932,087 (GRCm39) |
A234T |
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,849,703 (GRCm39) |
E475G |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,448,385 (GRCm39) |
V254A |
probably benign |
Het |
| Car13 |
A |
G |
3: 14,715,749 (GRCm39) |
Y89C |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 44,057,728 (GRCm39) |
K100R |
probably damaging |
Het |
| Cdh11 |
A |
G |
8: 103,361,175 (GRCm39) |
I721T |
probably damaging |
Het |
| Cdh2 |
G |
A |
18: 16,779,579 (GRCm39) |
Q161* |
probably null |
Het |
| Clk1 |
T |
C |
1: 58,459,354 (GRCm39) |
K135R |
probably damaging |
Het |
| Col5a1 |
G |
A |
2: 27,887,611 (GRCm39) |
G961R |
unknown |
Het |
| Cpt1b |
T |
A |
15: 89,308,476 (GRCm39) |
I151F |
probably benign |
Het |
| Cyp51 |
A |
G |
5: 4,151,213 (GRCm39) |
F139L |
probably damaging |
Het |
| Disp1 |
TTGA |
T |
1: 182,870,119 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
C |
17: 31,029,298 (GRCm39) |
I4089T |
probably benign |
Het |
| Dnali1 |
C |
T |
4: 124,952,843 (GRCm39) |
V227M |
possibly damaging |
Het |
| Eml4 |
T |
G |
17: 83,717,514 (GRCm39) |
S29A |
probably benign |
Het |
| Eps8l3 |
C |
A |
3: 107,786,895 (GRCm39) |
P24T |
probably benign |
Het |
| Fancc |
A |
T |
13: 63,478,446 (GRCm39) |
|
probably null |
Het |
| Firrm |
A |
T |
1: 163,785,120 (GRCm39) |
V753D |
probably benign |
Het |
| Grid2 |
G |
A |
6: 63,885,975 (GRCm39) |
A124T |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,204,204 (GRCm39) |
|
probably null |
Het |
| Kyat1 |
G |
A |
2: 30,076,662 (GRCm39) |
A284V |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lmbrd2 |
G |
T |
15: 9,175,269 (GRCm39) |
L393F |
probably benign |
Het |
| Lrrc26 |
T |
A |
2: 25,180,536 (GRCm39) |
L179Q |
probably damaging |
Het |
| Mlx |
A |
G |
11: 100,979,520 (GRCm39) |
D113G |
possibly damaging |
Het |
| Myod1 |
A |
G |
7: 46,026,407 (GRCm39) |
K104R |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,429,602 (GRCm39) |
|
probably null |
Het |
| Or56b2j |
T |
G |
7: 104,353,200 (GRCm39) |
V142G |
probably damaging |
Het |
| Or5b118 |
A |
G |
19: 13,448,336 (GRCm39) |
M1V |
probably null |
Het |
| Or6c3 |
A |
C |
10: 129,308,746 (GRCm39) |
N62H |
probably damaging |
Het |
| Pacsin3 |
A |
T |
2: 91,093,126 (GRCm39) |
Y206F |
probably damaging |
Het |
| Pcdhgb5 |
T |
A |
18: 37,864,970 (GRCm39) |
V255E |
probably damaging |
Het |
| Pdp1 |
T |
C |
4: 11,960,907 (GRCm39) |
D468G |
possibly damaging |
Het |
| Pgr |
C |
T |
9: 8,900,600 (GRCm39) |
|
probably benign |
Het |
| Prrt2 |
T |
A |
7: 126,617,899 (GRCm39) |
Y345F |
probably benign |
Het |
| Rbbp8nl |
T |
C |
2: 179,920,461 (GRCm39) |
T515A |
probably damaging |
Het |
| Rc3h1 |
G |
T |
1: 160,757,823 (GRCm39) |
R47L |
probably damaging |
Het |
| Rfpl4b |
T |
A |
10: 38,697,281 (GRCm39) |
I107F |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,869,801 (GRCm39) |
F754S |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,337,608 (GRCm39) |
T630A |
possibly damaging |
Het |
| Slco1a5 |
C |
A |
6: 142,194,542 (GRCm39) |
C367F |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,613,959 (GRCm39) |
|
probably null |
Het |
| Slit2 |
G |
A |
5: 48,378,333 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
G |
T |
4: 130,258,958 (GRCm39) |
G122V |
possibly damaging |
Het |
| Stk16 |
T |
A |
1: 75,190,248 (GRCm39) |
M111K |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,616,298 (GRCm39) |
I477V |
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,570,974 (GRCm39) |
E199D |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,424,407 (GRCm39) |
D459E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,541,881 (GRCm39) |
R25375G |
possibly damaging |
Het |
| Tubgcp2 |
A |
T |
7: 139,578,701 (GRCm39) |
M757K |
possibly damaging |
Het |
| Ubap1l |
T |
A |
9: 65,279,337 (GRCm39) |
V212D |
possibly damaging |
Het |
| Ubqln5 |
A |
G |
7: 103,778,632 (GRCm39) |
V64A |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,709,204 (GRCm39) |
M1337V |
probably benign |
Het |
| Vmn1r201 |
T |
A |
13: 22,659,409 (GRCm39) |
Y208N |
probably damaging |
Het |
| Xkr8 |
C |
T |
4: 132,455,368 (GRCm39) |
R335H |
probably damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,373,870 (GRCm39) |
C25S |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 44,887,800 (GRCm39) |
N404I |
probably 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 |
|
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 |
|
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'- TTCTTGATTAACAACCCAACTGGC -3'
(R):5'- TGGTTCTCATGTCCCTGAGG -3'
Sequencing Primer
(F):5'- GGCATACATAGTACATACAGTTAGTC -3'
(R):5'- CCTCAAGGTAAGGAAAGAGT -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation