Incidental Mutation 'R2205:Gpatch1'
ID |
238979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpatch1
|
Ensembl Gene |
ENSMUSG00000063808 |
Gene Name |
G patch domain containing 1 |
Synonyms |
Gpatc1, 1300003A17Rik |
MMRRC Submission |
040207-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2205 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
34975969-35017865 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34991197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 616
(D616Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079693]
[ENSMUST00000131143]
[ENSMUST00000131213]
|
AlphaFold |
Q9DBM1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079693
AA Change: D616Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078632 Gene: ENSMUSG00000063808 AA Change: D616Y
Domain | Start | End | E-Value | Type |
Pfam:DUF1604
|
31 |
116 |
2.1e-39 |
PFAM |
G_patch
|
150 |
191 |
4.72e-1 |
SMART |
low complexity region
|
200 |
209 |
N/A |
INTRINSIC |
low complexity region
|
456 |
478 |
N/A |
INTRINSIC |
low complexity region
|
543 |
555 |
N/A |
INTRINSIC |
low complexity region
|
651 |
665 |
N/A |
INTRINSIC |
low complexity region
|
759 |
780 |
N/A |
INTRINSIC |
low complexity region
|
803 |
816 |
N/A |
INTRINSIC |
low complexity region
|
847 |
897 |
N/A |
INTRINSIC |
low complexity region
|
899 |
909 |
N/A |
INTRINSIC |
low complexity region
|
918 |
929 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131143
|
SMART Domains |
Protein: ENSMUSP00000121711 Gene: ENSMUSG00000063808
Domain | Start | End | E-Value | Type |
Pfam:DUF1604
|
29 |
98 |
2.2e-37 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131213
AA Change: D616Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117475 Gene: ENSMUSG00000063808 AA Change: D616Y
Domain | Start | End | E-Value | Type |
Pfam:DUF1604
|
31 |
116 |
7.9e-40 |
PFAM |
G_patch
|
150 |
191 |
4.72e-1 |
SMART |
low complexity region
|
200 |
209 |
N/A |
INTRINSIC |
low complexity region
|
456 |
478 |
N/A |
INTRINSIC |
low complexity region
|
543 |
555 |
N/A |
INTRINSIC |
low complexity region
|
651 |
665 |
N/A |
INTRINSIC |
low complexity region
|
759 |
780 |
N/A |
INTRINSIC |
low complexity region
|
803 |
816 |
N/A |
INTRINSIC |
low complexity region
|
849 |
881 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
C |
G |
11: 48,910,149 (GRCm39) |
L761F |
probably damaging |
Het |
Abca14 |
T |
C |
7: 119,846,503 (GRCm39) |
S652P |
probably damaging |
Het |
Acsl6 |
G |
A |
11: 54,214,833 (GRCm39) |
G75S |
probably damaging |
Het |
Adamts7 |
A |
T |
9: 90,062,729 (GRCm39) |
K394N |
probably damaging |
Het |
Ahdc1 |
A |
G |
4: 132,793,220 (GRCm39) |
E1487G |
possibly damaging |
Het |
Aknad1 |
A |
G |
3: 108,664,609 (GRCm39) |
D406G |
probably damaging |
Het |
Albfm1 |
A |
G |
5: 90,717,421 (GRCm39) |
T201A |
possibly damaging |
Het |
Ankrd2 |
C |
A |
19: 42,032,558 (GRCm39) |
A273E |
probably damaging |
Het |
Ankrd26 |
T |
A |
6: 118,500,843 (GRCm39) |
H876L |
possibly damaging |
Het |
Arhgap35 |
A |
T |
7: 16,231,950 (GRCm39) |
|
probably null |
Het |
Bag6 |
G |
A |
17: 35,363,583 (GRCm39) |
G751R |
probably damaging |
Het |
Brat1 |
G |
A |
5: 140,690,888 (GRCm39) |
|
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,599,234 (GRCm39) |
A1742T |
probably damaging |
Het |
Catsperg1 |
G |
A |
7: 28,884,671 (GRCm39) |
Q922* |
probably null |
Het |
Cfap221 |
T |
G |
1: 119,863,834 (GRCm39) |
Y570S |
possibly damaging |
Het |
Cfap45 |
T |
C |
1: 172,359,728 (GRCm39) |
V76A |
probably benign |
Het |
Chil3 |
T |
C |
3: 106,071,562 (GRCm39) |
D34G |
probably benign |
Het |
Cpa1 |
A |
G |
6: 30,641,818 (GRCm39) |
D214G |
probably damaging |
Het |
Cpd |
A |
G |
11: 76,693,070 (GRCm39) |
Y739H |
probably damaging |
Het |
Cttnbp2 |
T |
G |
6: 18,408,693 (GRCm39) |
D976A |
probably benign |
Het |
Dhrs7 |
A |
T |
12: 72,703,144 (GRCm39) |
V188E |
probably damaging |
Het |
Dpp9 |
A |
C |
17: 56,506,287 (GRCm39) |
I411S |
possibly damaging |
Het |
Elapor1 |
C |
T |
3: 108,382,359 (GRCm39) |
G270E |
probably damaging |
Het |
Fitm2 |
G |
A |
2: 163,314,516 (GRCm39) |
|
probably benign |
Het |
Flnc |
C |
T |
6: 29,459,507 (GRCm39) |
P2536S |
probably damaging |
Het |
Gm6370 |
T |
A |
5: 146,430,539 (GRCm39) |
D241E |
probably benign |
Het |
Gpc3 |
T |
A |
X: 51,486,083 (GRCm39) |
I344F |
probably damaging |
Het |
Hmgcs2 |
T |
A |
3: 98,198,499 (GRCm39) |
I134N |
probably damaging |
Het |
Hoxb3 |
T |
A |
11: 96,236,494 (GRCm39) |
S191T |
probably benign |
Het |
Ifit1bl1 |
C |
T |
19: 34,571,741 (GRCm39) |
E239K |
probably benign |
Het |
Ints8 |
A |
T |
4: 11,225,712 (GRCm39) |
M615K |
possibly damaging |
Het |
Irak1 |
G |
A |
X: 73,060,744 (GRCm39) |
T193I |
probably damaging |
Het |
Megf8 |
C |
T |
7: 25,041,173 (GRCm39) |
T1134I |
probably benign |
Het |
Mtrex |
T |
C |
13: 113,035,424 (GRCm39) |
I510V |
probably benign |
Het |
Nipsnap1 |
C |
A |
11: 4,839,974 (GRCm39) |
H232N |
possibly damaging |
Het |
Nme4 |
A |
T |
17: 26,311,114 (GRCm39) |
H150Q |
possibly damaging |
Het |
Nudt5 |
A |
T |
2: 5,860,794 (GRCm39) |
I22F |
possibly damaging |
Het |
P2rx7 |
T |
A |
5: 122,819,164 (GRCm39) |
Y529N |
probably damaging |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Pofut1 |
T |
A |
2: 153,103,167 (GRCm39) |
M267K |
probably damaging |
Het |
Rad54l2 |
T |
C |
9: 106,594,997 (GRCm39) |
D320G |
probably damaging |
Het |
Rdm1 |
C |
A |
11: 101,525,629 (GRCm39) |
A225E |
probably damaging |
Het |
Samm50 |
G |
A |
15: 84,086,515 (GRCm39) |
A245T |
probably benign |
Het |
Scfd2 |
A |
T |
5: 74,386,028 (GRCm39) |
M597K |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Ssh3 |
A |
G |
19: 4,319,101 (GRCm39) |
L3P |
probably damaging |
Het |
Stoml2 |
G |
T |
4: 43,030,243 (GRCm39) |
Y119* |
probably null |
Het |
Tbc1d31 |
A |
G |
15: 57,816,916 (GRCm39) |
D717G |
probably benign |
Het |
Timd5 |
A |
G |
11: 46,419,394 (GRCm39) |
N70S |
probably benign |
Het |
Tma7 |
C |
A |
9: 108,911,294 (GRCm39) |
|
probably benign |
Het |
Tmc1 |
A |
T |
19: 20,918,269 (GRCm39) |
L2M |
probably benign |
Het |
Tmem39b |
A |
C |
4: 129,587,716 (GRCm39) |
S32A |
probably benign |
Het |
Tnfsf14 |
T |
C |
17: 57,497,638 (GRCm39) |
D198G |
possibly damaging |
Het |
Tns3 |
T |
C |
11: 8,481,719 (GRCm39) |
Y211C |
probably damaging |
Het |
Ttc21b |
C |
T |
2: 66,065,467 (GRCm39) |
G436S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,681,907 (GRCm39) |
|
probably benign |
Het |
Ube3b |
G |
A |
5: 114,527,135 (GRCm39) |
V118M |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,335,147 (GRCm39) |
T1210A |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,604 (GRCm39) |
D58G |
probably benign |
Het |
Vmn2r104 |
A |
T |
17: 20,250,083 (GRCm39) |
N729K |
probably benign |
Het |
Wdr62 |
T |
A |
7: 29,957,574 (GRCm39) |
|
probably null |
Het |
Ywhah |
A |
G |
5: 33,184,484 (GRCm39) |
N229S |
probably damaging |
Het |
Zbtb47 |
A |
G |
9: 121,591,703 (GRCm39) |
T8A |
possibly damaging |
Het |
Zfyve27 |
C |
A |
19: 42,171,885 (GRCm39) |
A139D |
probably damaging |
Het |
Zmat1 |
A |
G |
X: 133,873,861 (GRCm39) |
L476P |
possibly damaging |
Het |
Zswim4 |
G |
T |
8: 84,952,498 (GRCm39) |
T488N |
possibly damaging |
Het |
|
Other mutations in Gpatch1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00818:Gpatch1
|
APN |
7 |
34,976,238 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01143:Gpatch1
|
APN |
7 |
35,000,997 (GRCm39) |
splice site |
probably benign |
|
IGL01523:Gpatch1
|
APN |
7 |
35,007,763 (GRCm39) |
missense |
probably null |
1.00 |
IGL01862:Gpatch1
|
APN |
7 |
34,994,703 (GRCm39) |
missense |
probably benign |
|
IGL02349:Gpatch1
|
APN |
7 |
35,006,680 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02792:Gpatch1
|
APN |
7 |
35,001,018 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02926:Gpatch1
|
APN |
7 |
35,007,694 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03099:Gpatch1
|
APN |
7 |
34,996,948 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03107:Gpatch1
|
APN |
7 |
35,002,742 (GRCm39) |
missense |
probably benign |
0.35 |
IGL03324:Gpatch1
|
APN |
7 |
34,993,120 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03324:Gpatch1
|
APN |
7 |
34,998,705 (GRCm39) |
missense |
probably damaging |
0.96 |
R0066:Gpatch1
|
UTSW |
7 |
34,986,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Gpatch1
|
UTSW |
7 |
34,986,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R0137:Gpatch1
|
UTSW |
7 |
34,986,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Gpatch1
|
UTSW |
7 |
34,997,056 (GRCm39) |
missense |
probably benign |
0.16 |
R0382:Gpatch1
|
UTSW |
7 |
35,001,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R0390:Gpatch1
|
UTSW |
7 |
34,980,806 (GRCm39) |
intron |
probably benign |
|
R0791:Gpatch1
|
UTSW |
7 |
34,980,801 (GRCm39) |
intron |
probably benign |
|
R1162:Gpatch1
|
UTSW |
7 |
35,002,905 (GRCm39) |
splice site |
probably benign |
|
R1374:Gpatch1
|
UTSW |
7 |
34,991,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R1480:Gpatch1
|
UTSW |
7 |
35,002,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R1556:Gpatch1
|
UTSW |
7 |
34,994,776 (GRCm39) |
missense |
probably benign |
0.00 |
R1682:Gpatch1
|
UTSW |
7 |
35,002,812 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1887:Gpatch1
|
UTSW |
7 |
35,002,813 (GRCm39) |
missense |
probably damaging |
0.98 |
R1935:Gpatch1
|
UTSW |
7 |
34,994,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R1936:Gpatch1
|
UTSW |
7 |
34,994,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R2148:Gpatch1
|
UTSW |
7 |
34,998,701 (GRCm39) |
missense |
probably benign |
0.16 |
R2215:Gpatch1
|
UTSW |
7 |
34,993,252 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2274:Gpatch1
|
UTSW |
7 |
34,988,103 (GRCm39) |
missense |
probably benign |
0.00 |
R2275:Gpatch1
|
UTSW |
7 |
34,988,103 (GRCm39) |
missense |
probably benign |
0.00 |
R4126:Gpatch1
|
UTSW |
7 |
34,993,079 (GRCm39) |
critical splice donor site |
probably null |
|
R4705:Gpatch1
|
UTSW |
7 |
34,998,730 (GRCm39) |
splice site |
probably null |
|
R5227:Gpatch1
|
UTSW |
7 |
35,008,776 (GRCm39) |
missense |
probably benign |
0.09 |
R5567:Gpatch1
|
UTSW |
7 |
35,006,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R5810:Gpatch1
|
UTSW |
7 |
34,994,796 (GRCm39) |
missense |
probably benign |
0.01 |
R5946:Gpatch1
|
UTSW |
7 |
34,991,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R6263:Gpatch1
|
UTSW |
7 |
35,002,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R6386:Gpatch1
|
UTSW |
7 |
34,991,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R6569:Gpatch1
|
UTSW |
7 |
34,991,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R6847:Gpatch1
|
UTSW |
7 |
34,992,983 (GRCm39) |
splice site |
probably null |
|
R7186:Gpatch1
|
UTSW |
7 |
34,994,738 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7259:Gpatch1
|
UTSW |
7 |
34,986,546 (GRCm39) |
critical splice donor site |
probably null |
|
R7276:Gpatch1
|
UTSW |
7 |
34,996,921 (GRCm39) |
missense |
probably benign |
0.00 |
R7516:Gpatch1
|
UTSW |
7 |
35,007,625 (GRCm39) |
missense |
probably benign |
0.09 |
R7521:Gpatch1
|
UTSW |
7 |
34,993,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R7561:Gpatch1
|
UTSW |
7 |
35,008,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R7570:Gpatch1
|
UTSW |
7 |
34,993,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R7588:Gpatch1
|
UTSW |
7 |
34,991,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R7843:Gpatch1
|
UTSW |
7 |
34,980,879 (GRCm39) |
missense |
unknown |
|
R8353:Gpatch1
|
UTSW |
7 |
34,976,704 (GRCm39) |
intron |
probably benign |
|
R8430:Gpatch1
|
UTSW |
7 |
35,007,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R8669:Gpatch1
|
UTSW |
7 |
34,991,204 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Gpatch1
|
UTSW |
7 |
34,994,806 (GRCm39) |
missense |
probably benign |
0.09 |
Z1176:Gpatch1
|
UTSW |
7 |
35,009,910 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Gpatch1
|
UTSW |
7 |
35,017,770 (GRCm39) |
missense |
probably benign |
|
Z1186:Gpatch1
|
UTSW |
7 |
34,997,079 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1186:Gpatch1
|
UTSW |
7 |
34,980,797 (GRCm39) |
missense |
unknown |
|
Z1191:Gpatch1
|
UTSW |
7 |
35,017,770 (GRCm39) |
missense |
probably benign |
|
Z1191:Gpatch1
|
UTSW |
7 |
34,997,079 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1191:Gpatch1
|
UTSW |
7 |
34,980,797 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGGAGCATAGTATGAACTCTAAG -3'
(R):5'- CCCAAACAACTTCATATATGAGTGC -3'
Sequencing Primer
(F):5'- AGCTCTTCTAAGCCCTAAGGGTAG -3'
(R):5'- TAGGGAATAGCATCAGGTCCCC -3'
|
Posted On |
2014-10-02 |