Incidental Mutation 'R9456:Dennd4b'
ID |
714573 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd4b
|
Ensembl Gene |
ENSMUSG00000042404 |
Gene Name |
DENN domain containing 4B |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R9456 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
90172492-90187976 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90178515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 537
(T537I)
|
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: T537I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096514 Gene: ENSMUSG00000042404 AA Change: T537I
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: T526I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117354 Gene: ENSMUSG00000042404 AA Change: T526I
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: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
C |
18: 10,645,121 (GRCm39) |
D391G |
probably benign |
Het |
Arhgdia |
A |
C |
11: 120,470,068 (GRCm39) |
W202G |
probably damaging |
Het |
Atp2a3 |
A |
T |
11: 72,871,131 (GRCm39) |
D575V |
probably benign |
Het |
Cep350 |
C |
A |
1: 155,744,457 (GRCm39) |
V2121L |
probably benign |
Het |
Clcn2 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 20,534,702 (GRCm39) |
|
probably benign |
Het |
Cldn9 |
A |
T |
17: 23,902,556 (GRCm39) |
V23E |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,593,237 (GRCm39) |
S1542F |
probably benign |
Het |
Cmbl |
A |
G |
15: 31,589,948 (GRCm39) |
D226G |
probably damaging |
Het |
Dnah7b |
C |
A |
1: 46,165,953 (GRCm39) |
D539E |
possibly damaging |
Het |
Fam219a |
T |
C |
4: 41,521,871 (GRCm39) |
T70A |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,942,571 (GRCm39) |
V488E |
possibly damaging |
Het |
Gm3336 |
A |
G |
8: 71,174,740 (GRCm39) |
*96W |
probably null |
Het |
Hectd1 |
A |
G |
12: 51,832,584 (GRCm39) |
I930T |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,506,053 (GRCm39) |
C3824* |
probably null |
Het |
Ift140 |
T |
C |
17: 25,254,758 (GRCm39) |
F413L |
probably benign |
Het |
Itfg1 |
A |
G |
8: 86,565,566 (GRCm39) |
V90A |
probably benign |
Het |
Jph4 |
A |
T |
14: 55,351,090 (GRCm39) |
W309R |
probably damaging |
Het |
Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
Klhl5 |
T |
C |
5: 65,305,939 (GRCm39) |
F302S |
probably damaging |
Het |
Klk1b8 |
T |
C |
7: 43,453,177 (GRCm39) |
M256T |
probably benign |
Het |
Klre1 |
A |
T |
6: 129,559,368 (GRCm39) |
R99S |
probably benign |
Het |
Krt79 |
T |
C |
15: 101,839,904 (GRCm39) |
T364A |
probably benign |
Het |
Lin7a |
C |
T |
10: 107,218,483 (GRCm39) |
P131L |
possibly damaging |
Het |
Lrrc49 |
A |
G |
9: 60,594,699 (GRCm39) |
Y9H |
probably benign |
Het |
Lrrc8a |
T |
A |
2: 30,145,663 (GRCm39) |
I159N |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 66,615,532 (GRCm39) |
S692G |
probably benign |
Het |
Myo15a |
G |
A |
11: 60,392,668 (GRCm39) |
V1017M |
|
Het |
Nol4 |
T |
C |
18: 23,172,897 (GRCm39) |
D68G |
probably benign |
Het |
Or4f53 |
T |
C |
2: 111,088,348 (GRCm39) |
V296A |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,515 (GRCm39) |
V254A |
probably damaging |
Het |
Pigw |
C |
A |
11: 84,768,040 (GRCm39) |
A430S |
probably benign |
Het |
Pla2g4c |
T |
C |
7: 13,077,900 (GRCm39) |
L356P |
probably damaging |
Het |
Prorp |
T |
C |
12: 55,385,015 (GRCm39) |
V410A |
probably damaging |
Het |
Prr5 |
A |
G |
15: 84,585,682 (GRCm39) |
T226A |
probably benign |
Het |
Pygo1 |
C |
T |
9: 72,833,056 (GRCm39) |
|
probably benign |
Het |
Rnf214 |
A |
G |
9: 45,779,286 (GRCm39) |
I333T |
possibly damaging |
Het |
Septin3 |
A |
G |
15: 82,167,352 (GRCm39) |
I86V |
probably benign |
Het |
Slc30a3 |
AGGGCTTACCTGAGCGG |
AGG |
5: 31,246,889 (GRCm39) |
|
probably null |
Het |
Socs5 |
C |
A |
17: 87,442,266 (GRCm39) |
T402K |
probably damaging |
Het |
Speer3 |
T |
A |
5: 13,846,368 (GRCm39) |
N229K |
|
Het |
Stk16 |
T |
C |
1: 75,187,804 (GRCm39) |
|
probably benign |
Het |
Taar7d |
T |
A |
10: 23,903,287 (GRCm39) |
F56L |
probably benign |
Het |
Tmprss2 |
C |
T |
16: 97,392,669 (GRCm39) |
V93I |
probably benign |
Het |
Tnpo2 |
G |
A |
8: 85,774,015 (GRCm39) |
E350K |
probably benign |
Het |
Tor1aip2 |
C |
T |
1: 155,937,525 (GRCm39) |
P87S |
possibly damaging |
Het |
Trgv7 |
A |
T |
13: 19,362,385 (GRCm39) |
R25* |
probably null |
Het |
Ush2a |
A |
G |
1: 188,558,589 (GRCm39) |
E3606G |
probably benign |
Het |
Zeb1 |
C |
T |
18: 5,766,709 (GRCm39) |
Q407* |
probably null |
Het |
Zfp609 |
A |
G |
9: 65,611,125 (GRCm39) |
S613P |
|
Het |
Zfp735 |
A |
G |
11: 73,602,403 (GRCm39) |
N449S |
possibly damaging |
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 |
R8502:Dennd4b
|
UTSW |
3 |
90,181,165 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- TAAGTACCATCTGAGGGCTAGAGG -3'
(R):5'- TCTCCAGTGGGATGCTCAAC -3'
Sequencing Primer
(F):5'- GCTAGAGGAGAATGGACATCC -3'
(R):5'- CCTTGGTAAGCTCAGAAATGCTGC -3'
|
Posted On |
2022-06-15 |