Incidental Mutation 'R8502:Dennd4b'
| ID |
655361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd4b
|
| Ensembl Gene |
ENSMUSG00000042404 |
| Gene Name |
DENN domain containing 4B |
| Synonyms |
|
| MMRRC Submission |
067839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R8502 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
90172492-90187976 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90181165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 774
(W774R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098914]
[ENSMUST00000129564]
|
| AlphaFold |
Q3U1Y4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098914
AA Change: W774R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404
AA Change: W774R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
uDENN
|
183 |
290 |
1.15e-29 |
SMART |
|
DENN
|
324 |
508 |
5.26e-70 |
SMART |
|
dDENN
|
573 |
647 |
1.75e-25 |
SMART |
|
low complexity region
|
672 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
752 |
N/A |
INTRINSIC |
|
coiled coil region
|
902 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1038 |
N/A |
INTRINSIC |
|
low complexity region
|
1086 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1127 |
N/A |
INTRINSIC |
|
low complexity region
|
1131 |
1148 |
N/A |
INTRINSIC |
|
low complexity region
|
1338 |
1350 |
N/A |
INTRINSIC |
|
low complexity region
|
1424 |
1439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129564
AA Change: W763R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404
AA Change: W763R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
uDENN
|
172 |
279 |
1.15e-29 |
SMART |
|
DENN
|
313 |
497 |
5.26e-70 |
SMART |
|
dDENN
|
562 |
636 |
1.75e-25 |
SMART |
|
low complexity region
|
661 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
741 |
N/A |
INTRINSIC |
|
coiled coil region
|
891 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1075 |
1085 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1116 |
N/A |
INTRINSIC |
|
low complexity region
|
1120 |
1137 |
N/A |
INTRINSIC |
|
low complexity region
|
1327 |
1339 |
N/A |
INTRINSIC |
|
low complexity region
|
1413 |
1428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138376
|
| SMART Domains |
Protein: ENSMUSP00000116003
Gene: ENSMUSG00000042404
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
29 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151648
|
| SMART Domains |
Protein: ENSMUSP00000121350
Gene: ENSMUSG00000042404
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
2 |
57 |
3.71e-6 |
SMART |
|
Pfam:DENN
|
91 |
157 |
2.9e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156358
|
| SMART Domains |
Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
|
Blast:uDENN
|
39 |
97 |
9e-6 |
BLAST |
|
Blast:uDENN
|
164 |
207 |
1e-22 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,219,282 (GRCm39) |
D405E |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,110,145 (GRCm39) |
L599F |
probably damaging |
Het |
| Accs |
T |
C |
2: 93,668,460 (GRCm39) |
Y337C |
probably damaging |
Het |
| Ahrr |
A |
T |
13: 74,431,193 (GRCm39) |
Y10N |
probably damaging |
Het |
| Akap12 |
T |
G |
10: 4,263,856 (GRCm39) |
D88E |
probably benign |
Het |
| Akr1c18 |
G |
A |
13: 4,192,188 (GRCm39) |
R170C |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,537,887 (GRCm39) |
V1211A |
probably damaging |
Het |
| Crlf2 |
T |
C |
5: 109,704,917 (GRCm39) |
D98G |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,130,773 (GRCm39) |
M129K |
probably benign |
Het |
| Dhx9 |
T |
C |
1: 153,335,210 (GRCm39) |
M932V |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,679,520 (GRCm39) |
S322P |
probably benign |
Het |
| Dst |
A |
G |
1: 34,206,373 (GRCm39) |
D907G |
probably damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,966 (GRCm39) |
K416E |
probably damaging |
Het |
| Ints6 |
G |
C |
14: 62,998,028 (GRCm39) |
T27R |
possibly damaging |
Het |
| Krt10 |
C |
T |
11: 99,278,359 (GRCm39) |
E267K |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,837,015 (GRCm39) |
N1074S |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,344,585 (GRCm39) |
W844* |
probably null |
Het |
| N4bp2l2 |
T |
G |
5: 150,585,821 (GRCm39) |
N53T |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nap1l1 |
T |
A |
10: 111,317,162 (GRCm39) |
M1K |
probably null |
Het |
| Nbeal2 |
C |
T |
9: 110,463,457 (GRCm39) |
S1258N |
possibly damaging |
Het |
| Or52a5 |
T |
C |
7: 103,426,968 (GRCm39) |
I195V |
probably benign |
Het |
| Osgin2 |
A |
T |
4: 16,005,493 (GRCm39) |
V131D |
probably damaging |
Het |
| Pced1a |
T |
C |
2: 130,265,577 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,861,584 (GRCm39) |
I569V |
probably damaging |
Het |
| Prss42 |
T |
C |
9: 110,629,984 (GRCm39) |
L246P |
probably damaging |
Het |
| Ptpra |
C |
A |
2: 130,391,679 (GRCm39) |
D732E |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Rspo3 |
T |
C |
10: 29,375,970 (GRCm39) |
T198A |
probably benign |
Het |
| Slc45a2 |
T |
C |
15: 11,027,958 (GRCm39) |
I509T |
possibly damaging |
Het |
| Spag7 |
T |
C |
11: 70,560,059 (GRCm39) |
S17G |
probably benign |
Het |
| Tcl1b2 |
T |
A |
12: 105,113,367 (GRCm39) |
Y7N |
probably benign |
Het |
| Tmem198 |
G |
T |
1: 75,459,353 (GRCm39) |
G103W |
probably damaging |
Het |
| Trim62 |
A |
G |
4: 128,803,233 (GRCm39) |
I428V |
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,512,893 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
A |
5: 137,471,845 (GRCm39) |
T191S |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,976,916 (GRCm39) |
T1078A |
probably benign |
Het |
|
| Other mutations in Dennd4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Dennd4b
|
APN |
3 |
90,178,514 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL00834:Dennd4b
|
APN |
3 |
90,186,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01124:Dennd4b
|
APN |
3 |
90,176,381 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01792:Dennd4b
|
APN |
3 |
90,187,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01895:Dennd4b
|
APN |
3 |
90,182,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02533:Dennd4b
|
APN |
3 |
90,179,617 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02630:Dennd4b
|
APN |
3 |
90,180,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0107:Dennd4b
|
UTSW |
3 |
90,180,043 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0143:Dennd4b
|
UTSW |
3 |
90,179,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1079:Dennd4b
|
UTSW |
3 |
90,178,485 (GRCm39) |
missense |
probably benign |
|
|
R1306:Dennd4b
|
UTSW |
3 |
90,178,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1525:Dennd4b
|
UTSW |
3 |
90,178,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1756:Dennd4b
|
UTSW |
3 |
90,178,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Dennd4b
|
UTSW |
3 |
90,176,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Dennd4b
|
UTSW |
3 |
90,180,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Dennd4b
|
UTSW |
3 |
90,182,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2296:Dennd4b
|
UTSW |
3 |
90,182,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2406:Dennd4b
|
UTSW |
3 |
90,182,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2408:Dennd4b
|
UTSW |
3 |
90,178,882 (GRCm39) |
nonsense |
probably null |
|
|
R4691:Dennd4b
|
UTSW |
3 |
90,179,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5376:Dennd4b
|
UTSW |
3 |
90,185,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5466:Dennd4b
|
UTSW |
3 |
90,175,807 (GRCm39) |
splice site |
probably null |
|
|
R5555:Dennd4b
|
UTSW |
3 |
90,175,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Dennd4b
|
UTSW |
3 |
90,175,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5557:Dennd4b
|
UTSW |
3 |
90,175,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5605:Dennd4b
|
UTSW |
3 |
90,175,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5617:Dennd4b
|
UTSW |
3 |
90,182,933 (GRCm39) |
missense |
probably benign |
|
|
R5692:Dennd4b
|
UTSW |
3 |
90,185,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5790:Dennd4b
|
UTSW |
3 |
90,184,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Dennd4b
|
UTSW |
3 |
90,178,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6130:Dennd4b
|
UTSW |
3 |
90,183,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:Dennd4b
|
UTSW |
3 |
90,182,875 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6505:Dennd4b
|
UTSW |
3 |
90,174,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6631:Dennd4b
|
UTSW |
3 |
90,185,039 (GRCm39) |
splice site |
probably null |
|
|
R6801:Dennd4b
|
UTSW |
3 |
90,176,086 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7409:Dennd4b
|
UTSW |
3 |
90,181,259 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7457:Dennd4b
|
UTSW |
3 |
90,176,622 (GRCm39) |
missense |
probably benign |
|
|
R7650:Dennd4b
|
UTSW |
3 |
90,176,056 (GRCm39) |
nonsense |
probably null |
|
|
R8196:Dennd4b
|
UTSW |
3 |
90,178,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8208:Dennd4b
|
UTSW |
3 |
90,178,278 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8444:Dennd4b
|
UTSW |
3 |
90,181,259 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8735:Dennd4b
|
UTSW |
3 |
90,185,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Dennd4b
|
UTSW |
3 |
90,186,523 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9031:Dennd4b
|
UTSW |
3 |
90,178,188 (GRCm39) |
missense |
probably benign |
|
|
R9335:Dennd4b
|
UTSW |
3 |
90,175,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9456:Dennd4b
|
UTSW |
3 |
90,178,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Dennd4b
|
UTSW |
3 |
90,177,828 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
X0024:Dennd4b
|
UTSW |
3 |
90,178,278 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1176:Dennd4b
|
UTSW |
3 |
90,186,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAAAGCGTTACTTCCCACAC -3'
(R):5'- AGTCCCTCCAGTCGCATATC -3'
Sequencing Primer
(F):5'- CACACTGACCGGTAATCAGGAG -3'
(R):5'- TCGCATATCCTGGCTGGGATC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation