Incidental Mutation 'R1127:Dtx3l'
| ID |
96353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtx3l
|
| Ensembl Gene |
ENSMUSG00000049502 |
| Gene Name |
deltex 3-like, E3 ubiquitin ligase |
| Synonyms |
|
| MMRRC Submission |
039200-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.388)
|
| Stock # |
R1127 (G1)
|
| Quality Score |
167 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
35746885-35759397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35759127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 41
(S41P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023622]
[ENSMUST00000081933]
[ENSMUST00000114877]
[ENSMUST00000114878]
[ENSMUST00000114885]
[ENSMUST00000122870]
|
| AlphaFold |
Q3UIR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023622
|
| SMART Domains |
Protein: ENSMUSP00000023622
Gene: ENSMUSG00000022906
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Macro
|
74 |
182 |
1.5e-16 |
PFAM |
|
PDB:3HKV|B
|
386 |
559 |
3e-9 |
PDB |
|
SCOP:d1a26_2
|
403 |
521 |
1e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081933
AA Change: S41P
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080601
Gene: ENSMUSG00000049502
AA Change: S41P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
RING
|
569 |
607 |
5.82e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114877
|
| SMART Domains |
Protein: ENSMUSP00000110527
Gene: ENSMUSG00000022906
| Domain | Start | End | E-Value | Type |
|---|
|
A1pp
|
121 |
257 |
6.75e-33 |
SMART |
|
A1pp
|
325 |
451 |
9.37e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114878
|
| SMART Domains |
Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
| Domain | Start | End | E-Value | Type |
|---|
|
A1pp
|
85 |
221 |
6.75e-33 |
SMART |
|
A1pp
|
289 |
415 |
9.37e-9 |
SMART |
|
PDB:3HKV|B
|
619 |
792 |
4e-8 |
PDB |
|
SCOP:d1a26_2
|
636 |
754 |
1e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114885
AA Change: S41P
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110535
Gene: ENSMUSG00000049502
AA Change: S41P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
RING
|
569 |
607 |
5.82e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153066
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 80.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
C |
15: 79,019,403 (GRCm39) |
D179G |
probably benign |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,659,314 (GRCm39) |
E256K |
probably benign |
Het |
| Adh7 |
C |
T |
3: 137,927,490 (GRCm39) |
A12V |
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,767,399 (GRCm39) |
N1179K |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,511,336 (GRCm39) |
T344A |
probably benign |
Het |
| Aplf |
T |
C |
6: 87,623,273 (GRCm39) |
T269A |
probably benign |
Het |
| Cavin4 |
T |
C |
4: 48,663,637 (GRCm39) |
S6P |
probably damaging |
Het |
| Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
| Cyp2c66 |
A |
T |
19: 39,151,812 (GRCm39) |
N176Y |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,522,253 (GRCm39) |
D3980V |
probably damaging |
Het |
| Drc7 |
G |
T |
8: 95,799,416 (GRCm39) |
E530D |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,314,358 (GRCm39) |
T6434A |
probably damaging |
Het |
| Eef1b2 |
G |
A |
1: 63,218,616 (GRCm39) |
|
probably null |
Het |
| Eml3 |
C |
T |
19: 8,913,672 (GRCm39) |
T43I |
probably damaging |
Het |
| Fam110b |
T |
A |
4: 5,799,434 (GRCm39) |
L284Q |
probably damaging |
Het |
| Gpr33 |
A |
C |
12: 52,070,252 (GRCm39) |
H262Q |
probably damaging |
Het |
| Igfals |
T |
G |
17: 25,099,455 (GRCm39) |
L182R |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,126,205 (GRCm39) |
F496L |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,569,343 (GRCm39) |
H134Q |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Nxn |
A |
T |
11: 76,164,895 (GRCm39) |
C205* |
probably null |
Het |
| Oga |
G |
A |
19: 45,740,594 (GRCm39) |
R914* |
probably null |
Het |
| Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
| Or52h9 |
C |
A |
7: 104,202,293 (GRCm39) |
H56N |
possibly damaging |
Het |
| Pamr1 |
A |
T |
2: 102,469,698 (GRCm39) |
I415F |
possibly damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,545,327 (GRCm39) |
G200E |
probably damaging |
Het |
| Pramel29 |
G |
A |
4: 143,933,694 (GRCm39) |
T471I |
probably damaging |
Het |
| Prdm16 |
C |
A |
4: 154,613,256 (GRCm39) |
S57I |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,362,410 (GRCm39) |
K157R |
possibly damaging |
Het |
| Ptprn2 |
G |
A |
12: 117,175,628 (GRCm39) |
|
probably null |
Het |
| Pus7 |
G |
A |
5: 23,973,793 (GRCm39) |
H234Y |
probably benign |
Het |
| Rd3l |
A |
G |
12: 111,946,717 (GRCm39) |
Y20H |
probably benign |
Het |
| Stk31 |
A |
G |
6: 49,386,141 (GRCm39) |
D160G |
probably damaging |
Het |
| Sycp2 |
C |
T |
2: 178,016,159 (GRCm39) |
E768K |
possibly damaging |
Het |
| Tango6 |
T |
C |
8: 107,415,527 (GRCm39) |
V116A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,697,574 (GRCm39) |
|
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Xylb |
T |
C |
9: 119,212,443 (GRCm39) |
I427T |
probably damaging |
Het |
| Zc3h7a |
T |
G |
16: 10,956,939 (GRCm39) |
D890A |
probably damaging |
Het |
|
| Other mutations in Dtx3l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01814:Dtx3l
|
APN |
16 |
35,751,872 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02255:Dtx3l
|
APN |
16 |
35,753,706 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0560:Dtx3l
|
UTSW |
16 |
35,753,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1123:Dtx3l
|
UTSW |
16 |
35,753,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Dtx3l
|
UTSW |
16 |
35,753,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Dtx3l
|
UTSW |
16 |
35,753,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Dtx3l
|
UTSW |
16 |
35,753,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1690:Dtx3l
|
UTSW |
16 |
35,753,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Dtx3l
|
UTSW |
16 |
35,754,059 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2014:Dtx3l
|
UTSW |
16 |
35,756,797 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2015:Dtx3l
|
UTSW |
16 |
35,756,797 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2255:Dtx3l
|
UTSW |
16 |
35,756,949 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3023:Dtx3l
|
UTSW |
16 |
35,752,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3176:Dtx3l
|
UTSW |
16 |
35,752,543 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5224:Dtx3l
|
UTSW |
16 |
35,759,163 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5233:Dtx3l
|
UTSW |
16 |
35,753,608 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5375:Dtx3l
|
UTSW |
16 |
35,753,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5884:Dtx3l
|
UTSW |
16 |
35,752,603 (GRCm39) |
missense |
probably benign |
|
|
R6821:Dtx3l
|
UTSW |
16 |
35,753,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Dtx3l
|
UTSW |
16 |
35,751,742 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7242:Dtx3l
|
UTSW |
16 |
35,753,771 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7270:Dtx3l
|
UTSW |
16 |
35,754,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7837:Dtx3l
|
UTSW |
16 |
35,751,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7866:Dtx3l
|
UTSW |
16 |
35,759,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8053:Dtx3l
|
UTSW |
16 |
35,759,322 (GRCm39) |
unclassified |
probably benign |
|
|
R8337:Dtx3l
|
UTSW |
16 |
35,754,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9764:Dtx3l
|
UTSW |
16 |
35,753,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Dtx3l
|
UTSW |
16 |
35,753,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Dtx3l
|
UTSW |
16 |
35,752,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCTCAGATGGAGTCGAACCGC -3'
(R):5'- AACTGAAACTTTGCCTCTCGGGTC -3'
Sequencing Primer
(F):5'- ATCAGCGGCTGGACTCATAC -3'
(R):5'- CTTTAGGGCAGGGCTCG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation