Incidental Mutation 'R8368:Arhgap39'
| ID |
646270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap39
|
| Ensembl Gene |
ENSMUSG00000033697 |
| Gene Name |
Rho GTPase activating protein 39 |
| Synonyms |
D15Wsu169e |
| MMRRC Submission |
067738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R8368 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76608183-76702366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76619455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 710
(S710T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036176]
[ENSMUST00000077821]
|
| AlphaFold |
P59281 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036176
AA Change: S710T
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697
AA Change: S710T
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
27 |
60 |
1.64e0 |
SMART |
|
WW
|
66 |
99 |
5.41e-1 |
SMART |
|
low complexity region
|
125 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
Pfam:MyTH4
|
759 |
904 |
2.3e-32 |
PFAM |
|
RhoGAP
|
932 |
1105 |
5.9e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077821
AA Change: S710T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697
AA Change: S710T
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
27 |
60 |
1.64e0 |
SMART |
|
WW
|
66 |
99 |
5.41e-1 |
SMART |
|
low complexity region
|
125 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
Pfam:MyTH4
|
756 |
874 |
3.3e-25 |
PFAM |
|
RhoGAP
|
901 |
1074 |
5.9e-28 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb10 |
A |
C |
5: 24,744,615 (GRCm39) |
I193S |
probably benign |
Het |
| C2cd6 |
A |
G |
1: 59,133,820 (GRCm39) |
L67P |
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,543,742 (GRCm39) |
L748P |
probably benign |
Het |
| Cers4 |
T |
G |
8: 4,565,698 (GRCm39) |
V48G |
probably benign |
Het |
| Chrna10 |
T |
C |
7: 101,764,223 (GRCm39) |
T54A |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,052,124 (GRCm39) |
S242P |
probably benign |
Het |
| Fam151a |
A |
G |
4: 106,604,190 (GRCm39) |
T325A |
probably benign |
Het |
| Gm21190 |
A |
T |
5: 15,729,848 (GRCm39) |
S257T |
possibly damaging |
Het |
| Gm49368 |
T |
C |
7: 127,713,921 (GRCm39) |
S909P |
probably benign |
Het |
| Gm5150 |
C |
A |
3: 16,044,902 (GRCm39) |
V108F |
probably damaging |
Het |
| Gsdmc2 |
G |
A |
15: 63,696,902 (GRCm39) |
T423I |
probably damaging |
Het |
| Hsf2 |
T |
A |
10: 57,388,241 (GRCm39) |
C501S |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,836,796 (GRCm39) |
N551D |
probably benign |
Het |
| Kctd3 |
G |
A |
1: 188,704,404 (GRCm39) |
T789I |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,759,264 (GRCm39) |
E474G |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 104,002,379 (GRCm39) |
|
probably null |
Het |
| Nrdc |
A |
G |
4: 108,870,895 (GRCm39) |
D174G |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 90,298,815 (GRCm39) |
Y445* |
probably null |
Het |
| Otol1 |
A |
G |
3: 69,935,199 (GRCm39) |
Y397C |
probably damaging |
Het |
| Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
| Rad21l |
A |
G |
2: 151,495,390 (GRCm39) |
V431A |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,574,155 (GRCm39) |
L694S |
possibly damaging |
Het |
| Rasal1 |
A |
G |
5: 120,809,615 (GRCm39) |
S507G |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,940,833 (GRCm39) |
D2162V |
probably damaging |
Het |
| Samd7 |
A |
T |
3: 30,819,574 (GRCm39) |
D441V |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,943,255 (GRCm39) |
S623G |
probably damaging |
Het |
| Shld1 |
T |
C |
2: 132,592,433 (GRCm39) |
I160T |
probably benign |
Het |
| Slc23a3 |
G |
T |
1: 75,106,281 (GRCm39) |
P313T |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,334,873 (GRCm39) |
S231P |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,870,368 (GRCm39) |
D1320G |
possibly damaging |
Het |
| Tdpoz7 |
A |
G |
3: 93,979,893 (GRCm39) |
F20S |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,030 (GRCm39) |
T372A |
probably damaging |
Het |
| Trim45 |
A |
G |
3: 100,830,672 (GRCm39) |
T149A |
possibly damaging |
Het |
| Trim63 |
TGAGGAGGAGGAGGAGGAGGAG |
TGAGGAGGAGGAGGAGGAG |
4: 134,055,017 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,838,070 (GRCm39) |
S927N |
probably benign |
Het |
| Uqcrfs1 |
C |
A |
13: 30,724,799 (GRCm39) |
G247V |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,682,455 (GRCm39) |
N342I |
probably damaging |
Het |
|
| Other mutations in Arhgap39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01547:Arhgap39
|
APN |
15 |
76,622,015 (GRCm39) |
splice site |
probably benign |
|
|
IGL01586:Arhgap39
|
APN |
15 |
76,614,638 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01693:Arhgap39
|
APN |
15 |
76,610,167 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02017:Arhgap39
|
APN |
15 |
76,621,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02508:Arhgap39
|
APN |
15 |
76,609,184 (GRCm39) |
makesense |
probably null |
|
|
IGL03333:Arhgap39
|
APN |
15 |
76,610,932 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0328:Arhgap39
|
UTSW |
15 |
76,636,152 (GRCm39) |
splice site |
probably benign |
|
|
R0432:Arhgap39
|
UTSW |
15 |
76,619,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0479:Arhgap39
|
UTSW |
15 |
76,619,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0549:Arhgap39
|
UTSW |
15 |
76,619,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0551:Arhgap39
|
UTSW |
15 |
76,619,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1054:Arhgap39
|
UTSW |
15 |
76,635,759 (GRCm39) |
missense |
probably benign |
|
|
R1830:Arhgap39
|
UTSW |
15 |
76,619,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Arhgap39
|
UTSW |
15 |
76,609,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2497:Arhgap39
|
UTSW |
15 |
76,609,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3909:Arhgap39
|
UTSW |
15 |
76,636,088 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4410:Arhgap39
|
UTSW |
15 |
76,609,712 (GRCm39) |
unclassified |
probably benign |
|
|
R4626:Arhgap39
|
UTSW |
15 |
76,621,837 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4790:Arhgap39
|
UTSW |
15 |
76,610,931 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4792:Arhgap39
|
UTSW |
15 |
76,625,717 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4911:Arhgap39
|
UTSW |
15 |
76,622,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Arhgap39
|
UTSW |
15 |
76,609,715 (GRCm39) |
unclassified |
probably benign |
|
|
R5417:Arhgap39
|
UTSW |
15 |
76,619,301 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5443:Arhgap39
|
UTSW |
15 |
76,682,125 (GRCm39) |
intron |
probably benign |
|
|
R5521:Arhgap39
|
UTSW |
15 |
76,649,694 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5686:Arhgap39
|
UTSW |
15 |
76,610,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5747:Arhgap39
|
UTSW |
15 |
76,625,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5785:Arhgap39
|
UTSW |
15 |
76,621,618 (GRCm39) |
missense |
probably benign |
|
|
R5879:Arhgap39
|
UTSW |
15 |
76,636,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Arhgap39
|
UTSW |
15 |
76,621,424 (GRCm39) |
nonsense |
probably null |
|
|
R6035:Arhgap39
|
UTSW |
15 |
76,621,424 (GRCm39) |
nonsense |
probably null |
|
|
R6049:Arhgap39
|
UTSW |
15 |
76,611,601 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6143:Arhgap39
|
UTSW |
15 |
76,614,606 (GRCm39) |
nonsense |
probably null |
|
|
R6232:Arhgap39
|
UTSW |
15 |
76,620,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6276:Arhgap39
|
UTSW |
15 |
76,621,736 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6277:Arhgap39
|
UTSW |
15 |
76,619,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6305:Arhgap39
|
UTSW |
15 |
76,621,902 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6587:Arhgap39
|
UTSW |
15 |
76,621,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Arhgap39
|
UTSW |
15 |
76,649,691 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7447:Arhgap39
|
UTSW |
15 |
76,649,797 (GRCm39) |
start gained |
probably benign |
|
|
R7658:Arhgap39
|
UTSW |
15 |
76,621,617 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8071:Arhgap39
|
UTSW |
15 |
76,621,702 (GRCm39) |
missense |
probably benign |
|
|
R8269:Arhgap39
|
UTSW |
15 |
76,635,942 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9124:Arhgap39
|
UTSW |
15 |
76,619,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9333:Arhgap39
|
UTSW |
15 |
76,619,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9438:Arhgap39
|
UTSW |
15 |
76,636,118 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9602:Arhgap39
|
UTSW |
15 |
76,610,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9615:Arhgap39
|
UTSW |
15 |
76,621,438 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9700:Arhgap39
|
UTSW |
15 |
76,611,617 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGATATACAGCTCATCCCGC -3'
(R):5'- TTGTCCTTCCCAGTCTGAGG -3'
Sequencing Primer
(F):5'- TGTGCACTCCAGCCTTTG -3'
(R):5'- TTCCCAGTCTGAGGACCTTGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation