Incidental Mutation 'R5822:Sdr39u1'
| ID |
449995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdr39u1
|
| Ensembl Gene |
ENSMUSG00000022223 |
| Gene Name |
short chain dehydrogenase/reductase family 39U, member 1 |
| Synonyms |
2310014G06Rik |
| MMRRC Submission |
044052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R5822 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56134740-56137750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56135196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 249
(V249A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022831]
[ENSMUST00000111325]
[ENSMUST00000226273]
[ENSMUST00000227032]
[ENSMUST00000228462]
[ENSMUST00000227211]
|
| AlphaFold |
Q5M8N4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022831
|
| SMART Domains |
Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
350 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
|
Pfam:RNase_Zc3h12a
|
429 |
582 |
1.9e-66 |
PFAM |
|
low complexity region
|
623 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111325
AA Change: V249A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000106957
Gene: ENSMUSG00000022223
AA Change: V249A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase
|
3 |
216 |
2.7e-7 |
PFAM |
|
Pfam:DUF1731
|
245 |
291 |
5.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226746
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227032
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227163
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227677
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228151
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227139
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227268
|
| Meta Mutation Damage Score |
0.0653 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (54/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8a |
C |
T |
11: 109,921,705 (GRCm39) |
E1450K |
probably damaging |
Het |
| B4galnt2 |
T |
C |
11: 95,756,985 (GRCm39) |
Y482C |
probably damaging |
Het |
| Bud23 |
A |
G |
5: 135,092,775 (GRCm39) |
F9L |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,039,816 (GRCm39) |
E1214V |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,861,823 (GRCm39) |
M1T |
probably null |
Het |
| Chkb |
T |
C |
15: 89,313,715 (GRCm39) |
E30G |
probably benign |
Het |
| Crp |
A |
C |
1: 172,525,635 (GRCm39) |
|
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,708,670 (GRCm39) |
R375G |
probably null |
Het |
| Ddx11 |
C |
T |
17: 66,436,976 (GRCm39) |
S90L |
probably benign |
Het |
| Flnc |
A |
C |
6: 29,459,429 (GRCm39) |
I2510L |
probably damaging |
Het |
| Ftdc1 |
C |
A |
16: 58,436,075 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
T |
A |
15: 6,692,707 (GRCm39) |
|
probably benign |
Het |
| Gbp3 |
C |
T |
3: 142,272,239 (GRCm39) |
P247L |
probably benign |
Het |
| Ggn |
C |
T |
7: 28,871,981 (GRCm39) |
P454S |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,352,894 (GRCm39) |
S2127T |
probably benign |
Het |
| Ipo11 |
A |
G |
13: 106,984,926 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
G |
A |
2: 62,546,582 (GRCm39) |
R1000W |
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
| Klc3 |
C |
T |
7: 19,129,724 (GRCm39) |
|
probably null |
Het |
| Lst1 |
A |
T |
17: 35,407,359 (GRCm39) |
M3K |
unknown |
Het |
| Madd |
C |
T |
2: 90,982,878 (GRCm39) |
R1355Q |
probably damaging |
Het |
| Map3k10 |
A |
G |
7: 27,356,159 (GRCm39) |
L920P |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,109 (GRCm39) |
V423A |
probably damaging |
Het |
| Mogat2 |
T |
C |
7: 98,869,112 (GRCm39) |
D302G |
possibly damaging |
Het |
| Nkapl |
A |
C |
13: 21,652,593 (GRCm39) |
S7A |
unknown |
Het |
| Npas2 |
A |
G |
1: 39,386,647 (GRCm39) |
S639G |
probably benign |
Het |
| Nr1h5 |
T |
G |
3: 102,856,644 (GRCm39) |
H260P |
probably damaging |
Het |
| Or2g25 |
T |
C |
17: 37,971,122 (GRCm39) |
Y34C |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,464 (GRCm39) |
L306Q |
possibly damaging |
Het |
| Or4c35 |
T |
C |
2: 89,808,787 (GRCm39) |
S222P |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,023 (GRCm39) |
T133I |
possibly damaging |
Het |
| Or8a1b |
T |
C |
9: 37,623,087 (GRCm39) |
M163V |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,156,249 (GRCm39) |
L1142P |
probably damaging |
Het |
| Pdik1l |
C |
T |
4: 134,014,474 (GRCm39) |
E11K |
possibly damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,172,727 (GRCm39) |
V555A |
probably damaging |
Het |
| Ppp6c |
G |
A |
2: 39,090,064 (GRCm39) |
Q81* |
probably null |
Het |
| Pramel18 |
A |
G |
4: 101,767,440 (GRCm39) |
M230V |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,001,444 (GRCm39) |
Y1178F |
probably benign |
Het |
| Relch |
G |
A |
1: 105,646,581 (GRCm39) |
V660M |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,339,886 (GRCm39) |
L860Q |
probably damaging |
Het |
| Serhl |
T |
C |
15: 83,000,528 (GRCm39) |
V305A |
probably benign |
Het |
| Slc5a11 |
T |
C |
7: 122,851,654 (GRCm39) |
I201T |
probably damaging |
Het |
| Stk32a |
A |
T |
18: 43,446,552 (GRCm39) |
E334V |
probably benign |
Het |
| Tmem217 |
A |
G |
17: 29,745,529 (GRCm39) |
L67P |
probably damaging |
Het |
| Tnnt1 |
A |
T |
7: 4,519,345 (GRCm39) |
L12* |
probably null |
Het |
| Trim80 |
C |
T |
11: 115,338,747 (GRCm39) |
R526C |
probably damaging |
Het |
| Unc5b |
A |
T |
10: 60,608,306 (GRCm39) |
F635I |
possibly damaging |
Het |
| Utp20 |
T |
G |
10: 88,653,147 (GRCm39) |
N311T |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,982,457 (GRCm39) |
T74A |
probably benign |
Het |
|
| Other mutations in Sdr39u1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Sdr39u1
|
APN |
14 |
56,135,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02490:Sdr39u1
|
APN |
14 |
56,135,798 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03074:Sdr39u1
|
APN |
14 |
56,137,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2240:Sdr39u1
|
UTSW |
14 |
56,137,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5937:Sdr39u1
|
UTSW |
14 |
56,135,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6377:Sdr39u1
|
UTSW |
14 |
56,135,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6620:Sdr39u1
|
UTSW |
14 |
56,135,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7685:Sdr39u1
|
UTSW |
14 |
56,135,191 (GRCm39) |
nonsense |
probably null |
|
|
R7710:Sdr39u1
|
UTSW |
14 |
56,137,116 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7996:Sdr39u1
|
UTSW |
14 |
56,135,344 (GRCm39) |
nonsense |
probably null |
|
|
R8350:Sdr39u1
|
UTSW |
14 |
56,135,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8450:Sdr39u1
|
UTSW |
14 |
56,135,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8964:Sdr39u1
|
UTSW |
14 |
56,135,170 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9256:Sdr39u1
|
UTSW |
14 |
56,135,209 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9766:Sdr39u1
|
UTSW |
14 |
56,135,194 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAAGTGCAGGGATCATCAC -3'
(R):5'- TCTTCCCCTGGATACACATTGG -3'
Sequencing Primer
(F):5'- AGTGCAGGGATCATCACCTGAC -3'
(R):5'- ACATTGGTGACCTGGCAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation