Incidental Mutation 'R2372:Sult2a4'
| ID |
248168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult2a4
|
| Ensembl Gene |
ENSMUSG00000074377 |
| Gene Name |
sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 4 |
| Synonyms |
Gm5584 |
| MMRRC Submission |
040352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R2372 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
13643602-13723516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13649225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 194
(I194L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108520]
[ENSMUST00000165167]
|
| AlphaFold |
L7N245 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108520
AA Change: I195L
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104160
Gene: ENSMUSG00000074377
AA Change: I195L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_3
|
5 |
205 |
1.5e-10 |
PFAM |
|
Pfam:Sulfotransfer_1
|
34 |
278 |
1.2e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165167
AA Change: I194L
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130490
Gene: ENSMUSG00000074377
AA Change: I194L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
33 |
277 |
1.3e-82 |
PFAM |
|
| Meta Mutation Damage Score |
0.2094 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: This is one of seven sulfotransferase family 2A genes in a chromosome 7 A1 cluster. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
A |
G |
7: 44,009,704 (GRCm39) |
L135S |
probably damaging |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alpi |
G |
T |
1: 87,028,316 (GRCm39) |
T169N |
probably damaging |
Het |
| Ccdc15 |
T |
C |
9: 37,226,801 (GRCm39) |
D378G |
possibly damaging |
Het |
| Cpb2 |
T |
G |
14: 75,505,490 (GRCm39) |
V162G |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,890,759 (GRCm39) |
E336G |
probably benign |
Het |
| Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
| Eef1d |
G |
A |
15: 75,768,166 (GRCm39) |
R199C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,660,321 (GRCm39) |
Y714C |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,681,388 (GRCm39) |
|
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,698,542 (GRCm39) |
N46D |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
C |
A |
11: 99,684,082 (GRCm39) |
E13* |
probably null |
Het |
| Gsx2 |
T |
C |
5: 75,237,713 (GRCm39) |
F222L |
probably damaging |
Het |
| Hpca |
T |
A |
4: 129,012,237 (GRCm39) |
K100* |
probably null |
Het |
| Iqsec1 |
A |
G |
6: 90,671,636 (GRCm39) |
S89P |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,086,796 (GRCm39) |
T347S |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,452,440 (GRCm39) |
L93S |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,812,045 (GRCm39) |
T981A |
probably damaging |
Het |
| N4bp2l1 |
C |
T |
5: 150,496,246 (GRCm39) |
E123K |
probably damaging |
Het |
| Npr2 |
C |
T |
4: 43,650,432 (GRCm39) |
R976W |
probably damaging |
Het |
| Rbpj |
T |
C |
5: 53,799,537 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
C |
A |
1: 143,646,620 (GRCm39) |
E42* |
probably null |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,779 (GRCm39) |
V301A |
possibly damaging |
Het |
| Sgip1 |
T |
C |
4: 102,766,988 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
C |
5: 34,716,840 (GRCm39) |
I361T |
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,876,348 (GRCm39) |
Y90N |
probably damaging |
Het |
| Slc25a45 |
G |
A |
19: 5,934,580 (GRCm39) |
V183I |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,748,925 (GRCm39) |
H664L |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,299,570 (GRCm39) |
D173Y |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,745,459 (GRCm39) |
|
probably benign |
Het |
| Use1 |
T |
C |
8: 71,821,823 (GRCm39) |
L169P |
possibly damaging |
Het |
| Zfp335 |
A |
G |
2: 164,736,959 (GRCm39) |
L918P |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,819,133 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sult2a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00557:Sult2a4
|
APN |
7 |
13,718,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:Sult2a4
|
APN |
7 |
13,643,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02078:Sult2a4
|
APN |
7 |
13,723,469 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02409:Sult2a4
|
APN |
7 |
13,718,844 (GRCm39) |
nonsense |
probably null |
|
|
IGL02970:Sult2a4
|
APN |
7 |
13,643,831 (GRCm39) |
splice site |
probably benign |
|
|
IGL03201:Sult2a4
|
APN |
7 |
13,665,692 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0827:Sult2a4
|
UTSW |
7 |
13,718,886 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1484:Sult2a4
|
UTSW |
7 |
13,643,726 (GRCm39) |
missense |
probably benign |
|
|
R1523:Sult2a4
|
UTSW |
7 |
13,643,785 (GRCm39) |
nonsense |
probably null |
|
|
R1613:Sult2a4
|
UTSW |
7 |
13,723,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2127:Sult2a4
|
UTSW |
7 |
13,649,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3161:Sult2a4
|
UTSW |
7 |
13,723,396 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5181:Sult2a4
|
UTSW |
7 |
13,722,316 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7124:Sult2a4
|
UTSW |
7 |
13,722,320 (GRCm39) |
nonsense |
probably null |
|
|
R7983:Sult2a4
|
UTSW |
7 |
13,649,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8214:Sult2a4
|
UTSW |
7 |
13,723,401 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9508:Sult2a4
|
UTSW |
7 |
13,723,437 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0028:Sult2a4
|
UTSW |
7 |
13,722,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAACTACTTAGAGCTTCATTGGCAC -3'
(R):5'- TGAGTGTGAGTCCTTTCCGC -3'
Sequencing Primer
(F):5'- GGCACAACAAGCCCTTCACTTG -3'
(R):5'- GTGTGAGTCCTTTCCGCCTTTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation