Incidental Mutation 'R1745:Diaph3'
| ID |
193948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Diaph3
|
| Ensembl Gene |
ENSMUSG00000022021 |
| Gene Name |
diaphanous related formin 3 |
| Synonyms |
mDia2, Drf3, p134MDia2, 4930417P13Rik, Diap3 |
| MMRRC Submission |
039777-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1745 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
86892803-87378671 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87203996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 554
(L554P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022599]
[ENSMUST00000168889]
[ENSMUST00000228000]
|
| AlphaFold |
Q9Z207 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022599
AA Change: L554P
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: L554P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
86 |
N/A |
INTRINSIC |
|
Drf_GBD
|
93 |
276 |
7.94e-61 |
SMART |
|
Drf_FH3
|
281 |
467 |
5.74e-67 |
SMART |
|
coiled coil region
|
485 |
533 |
N/A |
INTRINSIC |
|
SCOP:d1jvr__
|
545 |
589 |
1e-3 |
SMART |
|
FH2
|
615 |
1056 |
3.88e-180 |
SMART |
|
Blast:FH2
|
1087 |
1160 |
2e-27 |
BLAST |
|
low complexity region
|
1163 |
1171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168889
AA Change: L554P
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: L554P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
86 |
N/A |
INTRINSIC |
|
Drf_GBD
|
93 |
276 |
7.94e-61 |
SMART |
|
Drf_FH3
|
281 |
467 |
5.74e-67 |
SMART |
|
coiled coil region
|
485 |
533 |
N/A |
INTRINSIC |
|
SCOP:d1jvr__
|
545 |
589 |
1e-3 |
SMART |
|
FH2
|
615 |
1056 |
3.2e-181 |
SMART |
|
Blast:FH2
|
1087 |
1160 |
2e-27 |
BLAST |
|
low complexity region
|
1163 |
1171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227666
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228000
AA Change: L543P
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
98% (54/55) |
| 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 diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for disruption of this gene display embryonic mortality and abnormal cytokinesis of RBC. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,623,359 (GRCm39) |
V851E |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,870,620 (GRCm39) |
I351T |
probably benign |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,556,369 (GRCm39) |
E285G |
probably damaging |
Het |
| Arfgef1 |
A |
C |
1: 10,243,480 (GRCm39) |
I1023R |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,451,833 (GRCm39) |
V133I |
probably benign |
Het |
| Bpifb6 |
A |
G |
2: 153,753,403 (GRCm39) |
T401A |
possibly damaging |
Het |
| Capn3 |
G |
A |
2: 120,320,170 (GRCm39) |
V283M |
possibly damaging |
Het |
| Chd6 |
A |
T |
2: 160,823,587 (GRCm39) |
V1261E |
probably damaging |
Het |
| Col22a1 |
C |
T |
15: 71,878,636 (GRCm39) |
A174T |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,054,198 (GRCm39) |
V27A |
probably benign |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,859,766 (GRCm39) |
|
probably null |
Het |
| Ephb4 |
A |
T |
5: 137,358,696 (GRCm39) |
H293L |
probably benign |
Het |
| Erbin |
G |
T |
13: 103,975,957 (GRCm39) |
H646N |
probably damaging |
Het |
| Faiml |
T |
C |
9: 99,116,511 (GRCm39) |
N60D |
probably benign |
Het |
| Fem1al |
A |
G |
11: 29,774,723 (GRCm39) |
S245P |
probably benign |
Het |
| Flot1 |
A |
G |
17: 36,135,552 (GRCm39) |
E102G |
probably damaging |
Het |
| Fryl |
G |
A |
5: 73,190,204 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
A |
T |
10: 99,281,386 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c3 |
A |
G |
1: 54,473,371 (GRCm39) |
S81P |
probably damaging |
Het |
| Hs1bp3 |
C |
T |
12: 8,371,690 (GRCm39) |
Q91* |
probably null |
Het |
| Igf1r |
T |
C |
7: 67,819,661 (GRCm39) |
C324R |
probably damaging |
Het |
| Il23r |
G |
A |
6: 67,443,275 (GRCm39) |
T276I |
probably damaging |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Kctd1 |
A |
T |
18: 15,196,263 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,285,275 (GRCm39) |
M539K |
possibly damaging |
Het |
| Man2b1 |
T |
A |
8: 85,820,563 (GRCm39) |
F617I |
probably damaging |
Het |
| Med15 |
G |
A |
16: 17,473,570 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,806,691 (GRCm39) |
K1543R |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,165 (GRCm39) |
Y265C |
probably benign |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,424 (GRCm39) |
N185K |
probably benign |
Het |
| Nkx2-1 |
A |
G |
12: 56,580,529 (GRCm39) |
M137T |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,270 (GRCm39) |
T269A |
probably benign |
Het |
| Prickle2 |
A |
T |
6: 92,353,574 (GRCm39) |
Y631N |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,377,643 (GRCm39) |
T698A |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,648,059 (GRCm39) |
I690V |
probably benign |
Het |
| Rnf44 |
G |
A |
13: 54,830,005 (GRCm39) |
R271W |
probably damaging |
Het |
| Rundc3a |
GAGCC |
GAGCCAGCC |
11: 102,291,739 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,805,153 (GRCm39) |
Y904H |
probably damaging |
Het |
| Suz12 |
T |
C |
11: 79,912,922 (GRCm39) |
L322P |
probably damaging |
Het |
| Tnfsf13 |
G |
A |
11: 69,575,973 (GRCm39) |
A38V |
probably benign |
Het |
| Topbp1 |
G |
A |
9: 103,186,044 (GRCm39) |
R62H |
probably benign |
Het |
| Tor1aip1 |
G |
T |
1: 155,906,180 (GRCm39) |
|
probably null |
Het |
| Trpv4 |
A |
T |
5: 114,771,215 (GRCm39) |
V438E |
probably damaging |
Het |
| Tsku |
A |
T |
7: 98,001,386 (GRCm39) |
V315E |
possibly damaging |
Het |
| Ttc38 |
T |
C |
15: 85,717,373 (GRCm39) |
L16P |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,759 (GRCm39) |
I54V |
probably damaging |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,196 (GRCm39) |
D98G |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,096,795 (GRCm39) |
D334E |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,682,494 (GRCm39) |
F3311Y |
unknown |
Het |
| Zswim9 |
A |
G |
7: 13,003,482 (GRCm39) |
S123P |
probably damaging |
Het |
|
| Other mutations in Diaph3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Diaph3
|
APN |
14 |
87,240,307 (GRCm39) |
missense |
probably benign |
|
|
IGL00809:Diaph3
|
APN |
14 |
87,237,463 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01419:Diaph3
|
APN |
14 |
87,202,989 (GRCm39) |
nonsense |
probably null |
|
|
IGL01577:Diaph3
|
APN |
14 |
87,143,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01718:Diaph3
|
APN |
14 |
86,893,774 (GRCm39) |
missense |
unknown |
|
|
IGL01736:Diaph3
|
APN |
14 |
87,156,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01893:Diaph3
|
APN |
14 |
87,156,288 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02316:Diaph3
|
APN |
14 |
87,223,551 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02527:Diaph3
|
APN |
14 |
87,047,795 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02586:Diaph3
|
APN |
14 |
87,223,512 (GRCm39) |
nonsense |
probably null |
|
|
IGL02749:Diaph3
|
APN |
14 |
87,156,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02892:Diaph3
|
APN |
14 |
87,104,066 (GRCm39) |
nonsense |
probably null |
|
|
IGL03069:Diaph3
|
APN |
14 |
87,009,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03191:Diaph3
|
APN |
14 |
87,310,738 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
BB008:Diaph3
|
UTSW |
14 |
87,352,456 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
BB018:Diaph3
|
UTSW |
14 |
87,352,456 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0007:Diaph3
|
UTSW |
14 |
87,104,056 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0007:Diaph3
|
UTSW |
14 |
87,104,056 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0011:Diaph3
|
UTSW |
14 |
87,103,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Diaph3
|
UTSW |
14 |
87,274,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0051:Diaph3
|
UTSW |
14 |
87,274,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0285:Diaph3
|
UTSW |
14 |
87,352,460 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0359:Diaph3
|
UTSW |
14 |
87,206,938 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0505:Diaph3
|
UTSW |
14 |
87,328,400 (GRCm39) |
splice site |
probably benign |
|
|
R0551:Diaph3
|
UTSW |
14 |
87,147,536 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1295:Diaph3
|
UTSW |
14 |
87,244,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Diaph3
|
UTSW |
14 |
86,893,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1602:Diaph3
|
UTSW |
14 |
87,328,594 (GRCm39) |
splice site |
probably benign |
|
|
R1725:Diaph3
|
UTSW |
14 |
87,203,759 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1747:Diaph3
|
UTSW |
14 |
87,310,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1772:Diaph3
|
UTSW |
14 |
87,202,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Diaph3
|
UTSW |
14 |
86,893,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1942:Diaph3
|
UTSW |
14 |
87,378,556 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1999:Diaph3
|
UTSW |
14 |
87,222,302 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2291:Diaph3
|
UTSW |
14 |
87,203,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2999:Diaph3
|
UTSW |
14 |
87,009,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3158:Diaph3
|
UTSW |
14 |
86,893,892 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3612:Diaph3
|
UTSW |
14 |
87,274,893 (GRCm39) |
missense |
probably null |
0.89 |
|
R4170:Diaph3
|
UTSW |
14 |
87,223,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Diaph3
|
UTSW |
14 |
87,223,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4912:Diaph3
|
UTSW |
14 |
87,244,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Diaph3
|
UTSW |
14 |
87,378,602 (GRCm39) |
start gained |
probably benign |
|
|
R5063:Diaph3
|
UTSW |
14 |
87,222,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Diaph3
|
UTSW |
14 |
87,222,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Diaph3
|
UTSW |
14 |
86,893,989 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5289:Diaph3
|
UTSW |
14 |
87,219,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5549:Diaph3
|
UTSW |
14 |
87,216,106 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5936:Diaph3
|
UTSW |
14 |
87,009,552 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5966:Diaph3
|
UTSW |
14 |
87,222,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6236:Diaph3
|
UTSW |
14 |
87,275,004 (GRCm39) |
nonsense |
probably null |
|
|
R6323:Diaph3
|
UTSW |
14 |
87,203,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6331:Diaph3
|
UTSW |
14 |
87,103,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Diaph3
|
UTSW |
14 |
87,009,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6398:Diaph3
|
UTSW |
14 |
87,103,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6408:Diaph3
|
UTSW |
14 |
87,066,430 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6469:Diaph3
|
UTSW |
14 |
86,893,974 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6519:Diaph3
|
UTSW |
14 |
87,203,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Diaph3
|
UTSW |
14 |
87,202,893 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7283:Diaph3
|
UTSW |
14 |
87,104,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Diaph3
|
UTSW |
14 |
87,274,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7811:Diaph3
|
UTSW |
14 |
87,219,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7931:Diaph3
|
UTSW |
14 |
87,352,456 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8012:Diaph3
|
UTSW |
14 |
87,274,958 (GRCm39) |
missense |
probably benign |
|
|
R8024:Diaph3
|
UTSW |
14 |
86,893,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8065:Diaph3
|
UTSW |
14 |
87,274,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Diaph3
|
UTSW |
14 |
87,103,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8345:Diaph3
|
UTSW |
14 |
87,066,529 (GRCm39) |
nonsense |
probably null |
|
|
R8494:Diaph3
|
UTSW |
14 |
87,274,958 (GRCm39) |
missense |
probably benign |
|
|
R8670:Diaph3
|
UTSW |
14 |
86,893,835 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9225:Diaph3
|
UTSW |
14 |
87,244,760 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9304:Diaph3
|
UTSW |
14 |
87,328,448 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9331:Diaph3
|
UTSW |
14 |
87,378,461 (GRCm39) |
nonsense |
probably null |
|
|
R9532:Diaph3
|
UTSW |
14 |
86,893,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Diaph3
|
UTSW |
14 |
86,893,868 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Diaph3
|
UTSW |
14 |
87,240,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGCCTGATCCCACTAGGAAGCC -3'
(R):5'- TGGGAGCCTGCTGACACTTTAGTC -3'
Sequencing Primer
(F):5'- TGGTTTCAAACCAAATGGCAG -3'
(R):5'- CTGCTTCACAAAGGGGAAATTAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation