Incidental Mutation 'R6942:Dlc1'
| ID |
540599 |
| 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 |
045056-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6942 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
37034905-37420297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37405364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 142
(K142E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163663]
[ENSMUST00000179501]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163663
AA Change: K142E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: K142E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179501
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.2%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,330,024 (GRCm39) |
|
probably null |
Het |
| Adap2 |
A |
G |
11: 80,045,891 (GRCm39) |
D57G |
probably benign |
Het |
| Atmin |
G |
T |
8: 117,683,452 (GRCm39) |
V371F |
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,604,013 (GRCm39) |
A1273E |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,274,635 (GRCm39) |
T483I |
possibly damaging |
Het |
| Cnot9 |
T |
A |
1: 74,558,154 (GRCm39) |
V100E |
probably damaging |
Het |
| Cog2 |
T |
A |
8: 125,271,875 (GRCm39) |
V463D |
probably benign |
Het |
| Crybg3 |
C |
T |
16: 59,360,183 (GRCm39) |
R2500H |
possibly damaging |
Het |
| Cyp11b2 |
G |
A |
15: 74,728,094 (GRCm39) |
|
probably benign |
Het |
| Cyp2j12 |
A |
T |
4: 96,001,101 (GRCm39) |
|
probably null |
Het |
| Dipk1c |
A |
C |
18: 84,748,549 (GRCm39) |
Y49S |
possibly damaging |
Het |
| Dpp6 |
G |
A |
5: 27,674,457 (GRCm39) |
V140M |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,735,128 (GRCm39) |
|
probably null |
Het |
| Gas7 |
A |
T |
11: 67,550,977 (GRCm39) |
|
probably null |
Het |
| Grin3b |
T |
A |
10: 79,811,953 (GRCm39) |
|
probably null |
Het |
| Hhatl |
G |
A |
9: 121,617,246 (GRCm39) |
A329V |
probably benign |
Het |
| Homer3 |
C |
T |
8: 70,744,201 (GRCm39) |
T276I |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,027,550 (GRCm39) |
S204N |
probably benign |
Het |
| Ino80 |
A |
G |
2: 119,213,983 (GRCm39) |
F1196L |
probably damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,450,062 (GRCm39) |
C154Y |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,401,537 (GRCm39) |
D1048V |
possibly damaging |
Het |
| Kif2c |
A |
G |
4: 117,023,575 (GRCm39) |
L379P |
probably damaging |
Het |
| Kpna6 |
A |
T |
4: 129,545,514 (GRCm39) |
|
probably null |
Het |
| Large2 |
C |
T |
2: 92,201,167 (GRCm39) |
R28H |
probably damaging |
Het |
| Map4k2 |
T |
A |
19: 6,396,739 (GRCm39) |
W552R |
possibly damaging |
Het |
| Mark3 |
A |
G |
12: 111,559,088 (GRCm39) |
I43M |
probably null |
Het |
| Med13l |
C |
A |
5: 118,883,071 (GRCm39) |
|
probably null |
Het |
| Mtbp |
T |
A |
15: 55,430,596 (GRCm39) |
Y218N |
probably damaging |
Het |
| Or52n5 |
C |
T |
7: 104,588,104 (GRCm39) |
R124C |
possibly damaging |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,696 (GRCm39) |
L497P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,386,025 (GRCm39) |
T1221A |
probably damaging |
Het |
| Pth1r |
C |
T |
9: 110,557,084 (GRCm39) |
|
probably null |
Het |
| Samd8 |
T |
C |
14: 21,825,221 (GRCm39) |
I59T |
possibly damaging |
Het |
| Scgb2b18 |
A |
G |
7: 32,871,564 (GRCm39) |
V85A |
possibly damaging |
Het |
| Sema6c |
G |
T |
3: 95,080,519 (GRCm39) |
V906L |
probably benign |
Het |
| Semp2l2b |
A |
T |
10: 21,943,160 (GRCm39) |
D273E |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,678,888 (GRCm39) |
T253S |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,085,516 (GRCm39) |
T694A |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,715,549 (GRCm39) |
L828P |
probably damaging |
Het |
| Spry1 |
T |
A |
3: 37,697,193 (GRCm39) |
D145E |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,487,131 (GRCm39) |
N213Y |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,074,194 (GRCm39) |
V1897A |
possibly damaging |
Het |
| Tmem45a |
T |
C |
16: 56,646,145 (GRCm39) |
N25S |
probably benign |
Het |
| Tmem70 |
T |
A |
1: 16,747,380 (GRCm39) |
Y166N |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,720,853 (GRCm39) |
I230N |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,732,190 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,088,704 (GRCm39) |
|
probably null |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,319 (GRCm39) |
I56F |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,653,139 (GRCm39) |
N815K |
probably benign |
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 |
|
|
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 |
|
|
R7548:Dlc1
|
UTSW |
8 |
37,051,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GCACTCGTATTCTTACAAAGCCC -3'
(R):5'- GTGGGTCAGAGACAAGAGACTTTC -3'
Sequencing Primer
(F):5'- GCCCCAGGCTTTTATTTATAGC -3'
(R):5'- AGACTTTCCTGGGAGGCCAATG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation