Incidental Mutation 'R4091:Slc22a30'
| ID |
317645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a30
|
| Ensembl Gene |
ENSMUSG00000052562 |
| Gene Name |
solute carrier family 22, member 30 |
| Synonyms |
C730048C13Rik |
| MMRRC Submission |
041626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8312735-8382475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8381909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 121
(V121M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064507]
[ENSMUST00000096269]
[ENSMUST00000120540]
|
| AlphaFold |
Q96LX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064507
AA Change: V121M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562
AA Change: V121M
| 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 damaging
Transcript: ENSMUST00000096269
AA Change: V121M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
AA Change: V121M
| 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 damaging
Transcript: ENSMUST00000120540
AA Change: V121M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114071
Gene: ENSMUSG00000052562
AA Change: V121M
| 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 |
0.3783 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,575,722 (GRCm39) |
S674P |
possibly damaging |
Het |
| Abca3 |
C |
T |
17: 24,616,456 (GRCm39) |
T966M |
probably damaging |
Het |
| Adam2 |
A |
T |
14: 66,267,172 (GRCm39) |
Y696N |
probably damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Arhgap25 |
G |
T |
6: 87,440,017 (GRCm39) |
S543R |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,084,738 (GRCm39) |
A3897T |
probably benign |
Het |
| Carns1 |
C |
T |
19: 4,221,682 (GRCm39) |
R191Q |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,643,611 (GRCm39) |
P895T |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,609,646 (GRCm39) |
I287F |
probably damaging |
Het |
| Cystm1 |
A |
G |
18: 36,499,600 (GRCm39) |
N5S |
unknown |
Het |
| Dnah8 |
T |
C |
17: 30,988,813 (GRCm39) |
V3261A |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,062,550 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,894,266 (GRCm39) |
S1847P |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,131,881 (GRCm39) |
V1642A |
probably benign |
Het |
| Eftud2 |
T |
C |
11: 102,730,242 (GRCm39) |
|
probably null |
Het |
| Fam221b |
A |
G |
4: 43,665,987 (GRCm39) |
I208T |
probably benign |
Het |
| Gpr141b |
T |
A |
13: 19,913,635 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
T |
C |
1: 135,089,301 (GRCm39) |
I255V |
probably benign |
Het |
| Grm7 |
G |
A |
6: 110,891,301 (GRCm39) |
S178N |
probably damaging |
Het |
| Hspa12b |
T |
A |
2: 130,975,408 (GRCm39) |
|
probably null |
Het |
| Kctd3 |
A |
T |
1: 188,727,917 (GRCm39) |
|
probably benign |
Het |
| Kynu |
G |
A |
2: 43,569,884 (GRCm39) |
V389M |
possibly damaging |
Het |
| Lcat |
A |
G |
8: 106,666,538 (GRCm39) |
L328P |
probably benign |
Het |
| Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
| Maml1 |
G |
A |
11: 50,182,656 (GRCm39) |
P78L |
probably benign |
Het |
| Mef2b |
G |
A |
8: 70,617,752 (GRCm39) |
V37M |
probably damaging |
Het |
| Mindy2 |
A |
T |
9: 70,541,342 (GRCm39) |
M281K |
probably damaging |
Het |
| Mon2 |
C |
T |
10: 122,874,415 (GRCm39) |
R311H |
probably damaging |
Het |
| Mtr |
A |
T |
13: 12,245,943 (GRCm39) |
V394E |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,282,415 (GRCm39) |
T745S |
possibly damaging |
Het |
| Nme9 |
T |
A |
9: 99,346,580 (GRCm39) |
D131E |
possibly damaging |
Het |
| Nphp4 |
C |
A |
4: 152,631,475 (GRCm39) |
Q792K |
probably damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,523,444 (GRCm39) |
C479S |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,950,871 (GRCm39) |
I406T |
probably damaging |
Het |
| Or10a49 |
G |
A |
7: 108,467,650 (GRCm39) |
A237V |
probably damaging |
Het |
| Or5an9 |
A |
T |
19: 12,187,143 (GRCm39) |
D71V |
probably damaging |
Het |
| Or8g28 |
T |
A |
9: 39,169,330 (GRCm39) |
I213F |
possibly damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,757,960 (GRCm39) |
T197A |
probably benign |
Het |
| Pla2r1 |
T |
A |
2: 60,262,937 (GRCm39) |
N1034I |
probably damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rxfp1 |
A |
T |
3: 79,552,068 (GRCm39) |
D744E |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,887 (GRCm39) |
N125D |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
| Smarcc1 |
T |
A |
9: 109,993,897 (GRCm39) |
D247E |
possibly damaging |
Het |
| Smg9 |
T |
A |
7: 24,120,292 (GRCm39) |
L422Q |
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Tle5 |
G |
A |
10: 81,401,418 (GRCm39) |
G162D |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,585,915 (GRCm39) |
D954V |
probably benign |
Het |
| Vmn1r227 |
T |
A |
17: 20,955,778 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r11 |
A |
C |
5: 109,202,616 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,238 (GRCm39) |
M200K |
probably damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,652,883 (GRCm39) |
Y469N |
probably damaging |
Het |
| Wdcp |
A |
G |
12: 4,905,279 (GRCm39) |
N600S |
probably null |
Het |
| Wdfy4 |
T |
G |
14: 32,847,837 (GRCm39) |
R838S |
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 |
|
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 |
|
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'- TCAAGGCTGAATAACACTGTCTTGTC -3'
(R):5'- GATCCTGAGCCAAGATGACC -3'
Sequencing Primer
(F):5'- CTTATTGCCATGACAAGGGACCTG -3'
(R):5'- TGAGCCAAGATGACCTCCTGAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation