Incidental Mutation 'R2215:Gpatch1'
| ID |
241087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpatch1
|
| Ensembl Gene |
ENSMUSG00000063808 |
| Gene Name |
G patch domain containing 1 |
| Synonyms |
Gpatc1, 1300003A17Rik |
| MMRRC Submission |
040217-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2215 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
34975969-35017865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34993252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 531
(L531Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079693]
[ENSMUST00000131143]
[ENSMUST00000131213]
|
| AlphaFold |
Q9DBM1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079693
AA Change: L531Q
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: L531Q
| 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 benign
Transcript: ENSMUST00000131213
AA Change: L531Q
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: L531Q
| 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 |
|
| Meta Mutation Damage Score |
0.1461 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,254,619 (GRCm39) |
S1899T |
probably damaging |
Het |
| Accs |
G |
T |
2: 93,672,243 (GRCm39) |
N208K |
probably benign |
Het |
| Actn4 |
C |
A |
7: 28,618,178 (GRCm39) |
V22L |
possibly damaging |
Het |
| Adam21 |
A |
G |
12: 81,607,064 (GRCm39) |
S233P |
probably damaging |
Het |
| Adrm1b |
G |
A |
3: 92,335,730 (GRCm39) |
A324V |
probably damaging |
Het |
| Agmat |
C |
T |
4: 141,476,899 (GRCm39) |
R102C |
probably benign |
Het |
| Akap8l |
T |
C |
17: 32,540,569 (GRCm39) |
E608G |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,834,519 (GRCm39) |
I788V |
probably damaging |
Het |
| Arhgef12 |
G |
T |
9: 42,917,167 (GRCm39) |
H391N |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,187,529 (GRCm39) |
H255Q |
possibly damaging |
Het |
| Baz1a |
G |
A |
12: 55,022,154 (GRCm39) |
R43* |
probably null |
Het |
| Bcas3 |
T |
C |
11: 85,692,769 (GRCm39) |
S862P |
probably damaging |
Het |
| Blm |
A |
T |
7: 80,149,595 (GRCm39) |
H671Q |
possibly damaging |
Het |
| Bmp8a |
C |
T |
4: 123,218,911 (GRCm39) |
V166I |
probably benign |
Het |
| Cep120 |
G |
T |
18: 53,860,707 (GRCm39) |
P241Q |
probably damaging |
Het |
| Col14a1 |
G |
A |
15: 55,244,238 (GRCm39) |
G437E |
unknown |
Het |
| Cyp2a5 |
T |
C |
7: 26,539,900 (GRCm39) |
L3S |
probably damaging |
Het |
| D16Ertd472e |
T |
C |
16: 78,342,155 (GRCm39) |
T242A |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,405,917 (GRCm39) |
|
probably null |
Het |
| Ddx20 |
A |
T |
3: 105,587,656 (GRCm39) |
|
probably benign |
Het |
| Eif4enif1 |
A |
G |
11: 3,177,476 (GRCm39) |
S185G |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,841,421 (GRCm39) |
|
probably benign |
Het |
| Fam117b |
T |
A |
1: 60,008,219 (GRCm39) |
I351K |
probably damaging |
Het |
| Fbxo31 |
T |
C |
8: 122,293,050 (GRCm39) |
I112V |
probably benign |
Het |
| Galntl5 |
A |
T |
5: 25,403,476 (GRCm39) |
N149I |
probably damaging |
Het |
| Gja8 |
A |
T |
3: 96,827,218 (GRCm39) |
F148Y |
probably damaging |
Het |
| Gprin1 |
G |
A |
13: 54,888,046 (GRCm39) |
T76M |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,546,787 (GRCm39) |
C113* |
probably null |
Het |
| Igf1r |
T |
A |
7: 67,814,982 (GRCm39) |
D294E |
probably benign |
Het |
| Kdm6b |
G |
A |
11: 69,295,870 (GRCm39) |
P799L |
unknown |
Het |
| Lat |
A |
T |
7: 125,967,137 (GRCm39) |
V139E |
probably damaging |
Het |
| Lrrc34 |
G |
A |
3: 30,697,678 (GRCm39) |
R51C |
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,892,322 (GRCm39) |
S978P |
probably benign |
Het |
| Masp1 |
T |
A |
16: 23,271,271 (GRCm39) |
D659V |
possibly damaging |
Het |
| Mcam |
A |
T |
9: 44,051,250 (GRCm39) |
R415* |
probably null |
Het |
| Mtmr10 |
A |
G |
7: 63,987,403 (GRCm39) |
T648A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,082,563 (GRCm39) |
W1378R |
probably benign |
Het |
| Nipsnap2 |
A |
G |
5: 129,816,649 (GRCm39) |
E64G |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,270,381 (GRCm39) |
M81V |
probably benign |
Het |
| Or52n4b |
T |
C |
7: 108,144,095 (GRCm39) |
L119P |
probably damaging |
Het |
| Or6c3 |
A |
T |
10: 129,309,289 (GRCm39) |
I243F |
probably damaging |
Het |
| Or9s27 |
G |
A |
1: 92,516,708 (GRCm39) |
V219I |
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,490,127 (GRCm39) |
S602A |
probably damaging |
Het |
| Peg10 |
A |
T |
6: 4,756,918 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
A |
T |
3: 28,132,542 (GRCm39) |
I577F |
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,267,811 (GRCm39) |
I720N |
probably damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,182,005 (GRCm39) |
|
probably null |
Het |
| Retreg3 |
G |
T |
11: 101,010,459 (GRCm39) |
Y49* |
probably null |
Het |
| Rrp36 |
T |
C |
17: 46,983,746 (GRCm39) |
E22G |
possibly damaging |
Het |
| Sec14l2 |
C |
A |
11: 4,059,169 (GRCm39) |
A167S |
probably damaging |
Het |
| Sema5b |
A |
G |
16: 35,480,585 (GRCm39) |
T751A |
probably damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,066,907 (GRCm39) |
|
probably benign |
Het |
| Smox |
T |
C |
2: 131,362,190 (GRCm39) |
|
probably null |
Het |
| Spats2l |
A |
T |
1: 57,985,575 (GRCm39) |
T543S |
possibly damaging |
Het |
| Sppl2a |
G |
T |
2: 126,769,754 (GRCm39) |
T34K |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,138,602 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,192,362 (GRCm39) |
I691F |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,923,114 (GRCm39) |
Y2566H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,570,853 (GRCm39) |
E26680G |
probably damaging |
Het |
| Txlna |
T |
C |
4: 129,533,111 (GRCm39) |
E139G |
possibly damaging |
Het |
| Ubap2 |
T |
C |
4: 41,196,483 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
A |
T |
2: 69,809,661 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
C |
1: 74,483,685 (GRCm39) |
F844V |
probably damaging |
Het |
| Usp6nl |
A |
G |
2: 6,429,150 (GRCm39) |
D204G |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,684 (GRCm39) |
I291T |
probably benign |
Het |
| Zfp229 |
T |
G |
17: 21,965,258 (GRCm39) |
V496G |
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 |
|
R2205:Gpatch1
|
UTSW |
7 |
34,991,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTCAACGCAATTCCTACAACTG -3'
(R):5'- AATATTGCCTGGAGGTAGCG -3'
Sequencing Primer
(F):5'- TTCAGCAGGTAGGCACACG -3'
(R):5'- AGGTAGCGCGCCCAGTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation