Incidental Mutation 'R7548:Dlc1'
ID |
584316 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dlc1
|
Ensembl Gene |
ENSMUSG00000031523 |
Gene Name |
deleted in liver cancer 1 |
Synonyms |
p122-RhoGAP, Arhgap7, A730069N07Rik, STARD12 |
MMRRC Submission |
045619-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7548 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
37034905-37420297 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37051809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 190
(S190P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033923
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033923]
[ENSMUST00000098826]
[ENSMUST00000163663]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033923
AA Change: S190P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000033923 Gene: ENSMUSG00000031523 AA Change: S190P
Domain | Start | End | E-Value | Type |
Pfam:SAM_2
|
15 |
76 |
2.2e-7 |
PFAM |
low complexity region
|
154 |
174 |
N/A |
INTRINSIC |
low complexity region
|
238 |
250 |
N/A |
INTRINSIC |
low complexity region
|
298 |
325 |
N/A |
INTRINSIC |
low complexity region
|
427 |
441 |
N/A |
INTRINSIC |
RhoGAP
|
653 |
845 |
8.82e-59 |
SMART |
START
|
887 |
1088 |
3.93e-59 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098826
AA Change: S224P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000096425 Gene: ENSMUSG00000031523 AA Change: S224P
Domain | Start | End | E-Value | Type |
Pfam:SAM_2
|
49 |
110 |
5.9e-8 |
PFAM |
low complexity region
|
188 |
208 |
N/A |
INTRINSIC |
low complexity region
|
272 |
284 |
N/A |
INTRINSIC |
low complexity region
|
332 |
359 |
N/A |
INTRINSIC |
low complexity region
|
461 |
475 |
N/A |
INTRINSIC |
RhoGAP
|
687 |
879 |
8.82e-59 |
SMART |
START
|
921 |
1122 |
3.93e-59 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163663
AA Change: S641P
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000132812 Gene: ENSMUSG00000031523 AA Change: S641P
Domain | Start | End | E-Value | Type |
low complexity region
|
353 |
369 |
N/A |
INTRINSIC |
low complexity region
|
388 |
403 |
N/A |
INTRINSIC |
Pfam:SAM_2
|
466 |
527 |
1.2e-7 |
PFAM |
low complexity region
|
605 |
625 |
N/A |
INTRINSIC |
low complexity region
|
689 |
701 |
N/A |
INTRINSIC |
low complexity region
|
749 |
776 |
N/A |
INTRINSIC |
low complexity region
|
878 |
892 |
N/A |
INTRINSIC |
RhoGAP
|
1104 |
1296 |
8.82e-59 |
SMART |
START
|
1338 |
1539 |
3.93e-59 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (71/71) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010] PHENOTYPE: Homozygous mutants die by E10.5 with variable defects in the neural tube, heart, brain and placenta. Mouse embryonic fibroblasts homozygous for an activated conditional allele exhibti increased sensitivity to Ras-induced transformation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519G04Rik |
G |
A |
5: 115,016,059 (GRCm39) |
S146N |
possibly damaging |
Het |
Acr |
T |
C |
15: 89,458,596 (GRCm39) |
S426P |
possibly damaging |
Het |
Arl6ip1 |
A |
T |
7: 117,725,733 (GRCm39) |
I59N |
probably damaging |
Het |
Atp2b4 |
A |
T |
1: 133,629,379 (GRCm39) |
*81K |
probably null |
Het |
Atp8a1 |
T |
A |
5: 67,973,071 (GRCm39) |
R26* |
probably null |
Het |
Atp8b4 |
T |
A |
2: 126,231,262 (GRCm39) |
Q453L |
probably benign |
Het |
B4galt4 |
A |
G |
16: 38,574,428 (GRCm39) |
E134G |
probably damaging |
Het |
Bcl9 |
G |
A |
3: 97,113,209 (GRCm39) |
T1082I |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,409,251 (GRCm39) |
F617L |
probably benign |
Het |
Ccdc15 |
T |
C |
9: 37,188,723 (GRCm39) |
N800S |
probably benign |
Het |
Cd300ld |
T |
C |
11: 114,878,248 (GRCm39) |
D88G |
probably benign |
Het |
Ceacam2 |
A |
T |
7: 25,229,958 (GRCm39) |
V216E |
probably benign |
Het |
Cecr2 |
T |
A |
6: 120,738,675 (GRCm39) |
M356K |
|
Het |
Cenpm |
T |
C |
15: 82,128,880 (GRCm39) |
M1V |
probably null |
Het |
Ces2e |
A |
G |
8: 105,658,538 (GRCm39) |
E401G |
probably benign |
Het |
Cib3 |
C |
A |
8: 72,961,041 (GRCm39) |
L65F |
probably damaging |
Het |
Clip4 |
C |
G |
17: 72,096,963 (GRCm39) |
T29R |
probably benign |
Het |
Cnot7 |
A |
G |
8: 40,953,874 (GRCm39) |
I131T |
probably damaging |
Het |
Cntn5 |
A |
T |
9: 9,673,415 (GRCm39) |
|
probably null |
Het |
Col11a1 |
A |
C |
3: 113,917,409 (GRCm39) |
H732P |
unknown |
Het |
Coq4 |
A |
T |
2: 29,685,420 (GRCm39) |
T145S |
possibly damaging |
Het |
Cwf19l1 |
T |
C |
19: 44,098,989 (GRCm39) |
D527G |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,923,735 (GRCm39) |
I303V |
probably damaging |
Het |
Dab2 |
C |
T |
15: 6,459,399 (GRCm39) |
T437I |
possibly damaging |
Het |
Dnah6 |
G |
A |
6: 73,004,423 (GRCm39) |
L3847F |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,877,838 (GRCm39) |
E411G |
probably benign |
Het |
Dpp8 |
T |
C |
9: 64,944,517 (GRCm39) |
Y95H |
probably damaging |
Het |
Emb |
T |
A |
13: 117,408,590 (GRCm39) |
D310E |
possibly damaging |
Het |
Eml4 |
C |
A |
17: 83,732,766 (GRCm39) |
Q140K |
probably benign |
Het |
Epb41l3 |
T |
C |
17: 69,517,271 (GRCm39) |
S100P |
probably damaging |
Het |
Fat4 |
A |
T |
3: 39,035,263 (GRCm39) |
T2972S |
probably benign |
Het |
Fignl2 |
T |
C |
15: 100,951,079 (GRCm39) |
E401G |
unknown |
Het |
Fryl |
T |
A |
5: 73,349,105 (GRCm39) |
D19V |
unknown |
Het |
Gck |
C |
T |
11: 5,852,040 (GRCm39) |
G16R |
|
Het |
Gm3371 |
T |
C |
14: 44,648,145 (GRCm39) |
M1V |
probably null |
Het |
Hlcs |
T |
A |
16: 93,933,876 (GRCm39) |
K661* |
probably null |
Het |
Il17re |
C |
G |
6: 113,443,348 (GRCm39) |
P363A |
probably damaging |
Het |
Kif24 |
C |
T |
4: 41,423,601 (GRCm39) |
E217K |
possibly damaging |
Het |
Klhdc7b |
T |
C |
15: 89,272,907 (GRCm39) |
I605T |
probably damaging |
Het |
Krt31 |
T |
C |
11: 99,940,346 (GRCm39) |
T170A |
probably damaging |
Het |
Lgals3bp |
T |
C |
11: 118,287,669 (GRCm39) |
D126G |
probably benign |
Het |
Lig1 |
T |
A |
7: 13,035,344 (GRCm39) |
F601Y |
possibly damaging |
Het |
Lrp6 |
A |
G |
6: 134,484,471 (GRCm39) |
I384T |
probably damaging |
Het |
Mfap5 |
A |
T |
6: 122,502,993 (GRCm39) |
T102S |
probably benign |
Het |
Mfsd6 |
A |
G |
1: 52,702,446 (GRCm39) |
F600S |
possibly damaging |
Het |
Nlrp4a |
G |
A |
7: 26,149,604 (GRCm39) |
E404K |
probably damaging |
Het |
Nme3 |
T |
C |
17: 25,115,522 (GRCm39) |
L12P |
probably damaging |
Het |
Nxpe5 |
A |
T |
5: 138,249,493 (GRCm39) |
T428S |
probably benign |
Het |
Or1e26 |
G |
A |
11: 73,479,802 (GRCm39) |
T254I |
possibly damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,430 (GRCm39) |
T191A |
probably benign |
Het |
Prr5 |
C |
A |
15: 84,641,259 (GRCm39) |
P175Q |
possibly damaging |
Het |
Psmc6 |
T |
C |
14: 45,572,375 (GRCm39) |
Y110H |
probably benign |
Het |
Pthlh |
T |
A |
6: 147,158,653 (GRCm39) |
R102S |
possibly damaging |
Het |
Ric8b |
G |
T |
10: 84,783,736 (GRCm39) |
S198I |
probably damaging |
Het |
Rrp7a |
C |
A |
15: 83,001,871 (GRCm39) |
R212S |
possibly damaging |
Het |
Rubcnl |
T |
C |
14: 75,279,792 (GRCm39) |
Y392H |
probably benign |
Het |
Sag |
G |
A |
1: 87,772,638 (GRCm39) |
V369I |
probably benign |
Het |
Sar1b |
A |
G |
11: 51,680,094 (GRCm39) |
E140G |
probably benign |
Het |
Sema3d |
T |
A |
5: 12,627,783 (GRCm39) |
M658K |
unknown |
Het |
Skor2 |
C |
T |
18: 76,948,600 (GRCm39) |
S774F |
possibly damaging |
Het |
Slc1a6 |
G |
T |
10: 78,650,265 (GRCm39) |
R501L |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,864,468 (GRCm39) |
M539V |
probably benign |
Het |
Spocd1 |
T |
C |
4: 129,823,602 (GRCm39) |
L133P |
|
Het |
Sptlc1 |
A |
T |
13: 53,521,968 (GRCm39) |
N96K |
possibly damaging |
Het |
Stox1 |
A |
T |
10: 62,501,946 (GRCm39) |
S205T |
probably damaging |
Het |
Tec |
T |
C |
5: 72,917,693 (GRCm39) |
M509V |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Ttc34 |
T |
A |
4: 154,940,816 (GRCm39) |
L499Q |
probably damaging |
Het |
Uqcc1 |
A |
G |
2: 155,751,309 (GRCm39) |
C120R |
probably damaging |
Het |
Usp39 |
C |
T |
6: 72,321,996 (GRCm39) |
S46N |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,994,724 (GRCm39) |
E220G |
probably benign |
Het |
Zfp287 |
A |
T |
11: 62,604,701 (GRCm39) |
C735* |
probably null |
Het |
|
Other mutations in Dlc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Dlc1
|
APN |
8 |
37,037,436 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL00807:Dlc1
|
APN |
8 |
37,040,002 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00924:Dlc1
|
APN |
8 |
37,405,368 (GRCm39) |
missense |
probably benign |
|
IGL01349:Dlc1
|
APN |
8 |
37,050,978 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01419:Dlc1
|
APN |
8 |
37,317,371 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01871:Dlc1
|
APN |
8 |
37,317,334 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01937:Dlc1
|
APN |
8 |
37,317,345 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02525:Dlc1
|
APN |
8 |
37,046,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02696:Dlc1
|
APN |
8 |
37,041,326 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02826:Dlc1
|
APN |
8 |
37,037,429 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03029:Dlc1
|
APN |
8 |
37,038,416 (GRCm39) |
splice site |
probably null |
|
BB001:Dlc1
|
UTSW |
8 |
37,038,570 (GRCm39) |
missense |
probably benign |
0.03 |
BB011:Dlc1
|
UTSW |
8 |
37,038,570 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02835:Dlc1
|
UTSW |
8 |
37,051,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Dlc1
|
UTSW |
8 |
37,404,875 (GRCm39) |
missense |
probably benign |
|
R0068:Dlc1
|
UTSW |
8 |
37,404,875 (GRCm39) |
missense |
probably benign |
|
R0164:Dlc1
|
UTSW |
8 |
37,066,594 (GRCm39) |
missense |
probably damaging |
0.96 |
R0164:Dlc1
|
UTSW |
8 |
37,066,594 (GRCm39) |
missense |
probably damaging |
0.96 |
R0218:Dlc1
|
UTSW |
8 |
37,317,383 (GRCm39) |
missense |
probably benign |
|
R0419:Dlc1
|
UTSW |
8 |
37,050,740 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0513:Dlc1
|
UTSW |
8 |
37,051,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R0645:Dlc1
|
UTSW |
8 |
37,041,203 (GRCm39) |
missense |
possibly damaging |
0.60 |
R0646:Dlc1
|
UTSW |
8 |
37,325,205 (GRCm39) |
missense |
probably benign |
|
R0727:Dlc1
|
UTSW |
8 |
37,039,828 (GRCm39) |
missense |
probably damaging |
0.99 |
R0792:Dlc1
|
UTSW |
8 |
37,405,702 (GRCm39) |
missense |
probably benign |
0.00 |
R1061:Dlc1
|
UTSW |
8 |
37,325,205 (GRCm39) |
missense |
probably benign |
|
R1221:Dlc1
|
UTSW |
8 |
37,051,985 (GRCm39) |
missense |
probably benign |
|
R1440:Dlc1
|
UTSW |
8 |
37,060,617 (GRCm39) |
splice site |
probably benign |
|
R1501:Dlc1
|
UTSW |
8 |
37,405,302 (GRCm39) |
missense |
probably benign |
0.06 |
R1606:Dlc1
|
UTSW |
8 |
37,317,406 (GRCm39) |
missense |
probably benign |
|
R1707:Dlc1
|
UTSW |
8 |
37,404,763 (GRCm39) |
missense |
probably benign |
0.03 |
R1750:Dlc1
|
UTSW |
8 |
37,325,244 (GRCm39) |
splice site |
probably null |
|
R1762:Dlc1
|
UTSW |
8 |
37,404,739 (GRCm39) |
missense |
probably benign |
0.25 |
R2041:Dlc1
|
UTSW |
8 |
37,049,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R2055:Dlc1
|
UTSW |
8 |
37,060,535 (GRCm39) |
missense |
probably damaging |
0.98 |
R2091:Dlc1
|
UTSW |
8 |
37,404,763 (GRCm39) |
missense |
probably benign |
0.00 |
R2987:Dlc1
|
UTSW |
8 |
37,041,306 (GRCm39) |
missense |
probably damaging |
0.97 |
R4285:Dlc1
|
UTSW |
8 |
37,041,282 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4294:Dlc1
|
UTSW |
8 |
37,051,907 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4631:Dlc1
|
UTSW |
8 |
37,404,712 (GRCm39) |
critical splice donor site |
probably null |
|
R4828:Dlc1
|
UTSW |
8 |
37,317,400 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4867:Dlc1
|
UTSW |
8 |
37,051,799 (GRCm39) |
missense |
probably benign |
0.01 |
R4902:Dlc1
|
UTSW |
8 |
37,044,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R5067:Dlc1
|
UTSW |
8 |
37,051,647 (GRCm39) |
missense |
probably benign |
0.04 |
R5068:Dlc1
|
UTSW |
8 |
37,405,184 (GRCm39) |
missense |
probably benign |
|
R5198:Dlc1
|
UTSW |
8 |
37,405,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R5471:Dlc1
|
UTSW |
8 |
37,051,879 (GRCm39) |
missense |
probably benign |
0.26 |
R5668:Dlc1
|
UTSW |
8 |
37,404,655 (GRCm39) |
unclassified |
probably benign |
|
R5915:Dlc1
|
UTSW |
8 |
37,405,829 (GRCm39) |
utr 5 prime |
probably benign |
|
R6323:Dlc1
|
UTSW |
8 |
37,405,537 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6655:Dlc1
|
UTSW |
8 |
37,039,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R6908:Dlc1
|
UTSW |
8 |
37,404,841 (GRCm39) |
missense |
probably benign |
0.02 |
R6914:Dlc1
|
UTSW |
8 |
37,405,364 (GRCm39) |
missense |
probably benign |
|
R6942:Dlc1
|
UTSW |
8 |
37,405,364 (GRCm39) |
missense |
probably benign |
|
R7269:Dlc1
|
UTSW |
8 |
37,046,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R7271:Dlc1
|
UTSW |
8 |
37,049,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R7462:Dlc1
|
UTSW |
8 |
37,405,118 (GRCm39) |
missense |
unknown |
|
R7649:Dlc1
|
UTSW |
8 |
37,049,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R7924:Dlc1
|
UTSW |
8 |
37,038,570 (GRCm39) |
missense |
probably benign |
0.03 |
R7960:Dlc1
|
UTSW |
8 |
37,404,989 (GRCm39) |
missense |
probably benign |
|
R7984:Dlc1
|
UTSW |
8 |
37,405,472 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8227:Dlc1
|
UTSW |
8 |
37,039,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R8491:Dlc1
|
UTSW |
8 |
37,052,000 (GRCm39) |
missense |
probably benign |
|
R8526:Dlc1
|
UTSW |
8 |
37,404,968 (GRCm39) |
missense |
probably benign |
0.00 |
R8715:Dlc1
|
UTSW |
8 |
37,405,795 (GRCm39) |
start gained |
probably benign |
|
R8887:Dlc1
|
UTSW |
8 |
37,051,481 (GRCm39) |
missense |
probably benign |
0.34 |
R8972:Dlc1
|
UTSW |
8 |
37,405,394 (GRCm39) |
nonsense |
probably null |
|
R8988:Dlc1
|
UTSW |
8 |
37,039,997 (GRCm39) |
missense |
probably damaging |
0.96 |
R9031:Dlc1
|
UTSW |
8 |
37,405,055 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9080:Dlc1
|
UTSW |
8 |
37,052,006 (GRCm39) |
missense |
probably benign |
|
R9092:Dlc1
|
UTSW |
8 |
37,199,860 (GRCm39) |
missense |
probably benign |
0.03 |
R9096:Dlc1
|
UTSW |
8 |
37,080,721 (GRCm39) |
missense |
probably benign |
0.00 |
R9097:Dlc1
|
UTSW |
8 |
37,080,721 (GRCm39) |
missense |
probably benign |
0.00 |
R9166:Dlc1
|
UTSW |
8 |
37,066,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R9187:Dlc1
|
UTSW |
8 |
37,405,786 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R9240:Dlc1
|
UTSW |
8 |
37,052,005 (GRCm39) |
missense |
probably benign |
|
R9276:Dlc1
|
UTSW |
8 |
37,046,558 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9325:Dlc1
|
UTSW |
8 |
37,038,518 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1176:Dlc1
|
UTSW |
8 |
37,051,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAGCACTGATGATCAACCC -3'
(R):5'- CCCCAGACAACTCTCGTTTG -3'
Sequencing Primer
(F):5'- TGATGATCAACCCCAGCTTGG -3'
(R):5'- AACTCTCGTTTGCAAAGCG -3'
|
Posted On |
2019-10-17 |