Incidental Mutation 'R9236:Zgrf1'
ID |
700469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zgrf1
|
Ensembl Gene |
ENSMUSG00000051278 |
Gene Name |
zinc finger, GRF-type containing 1 |
Synonyms |
4930422G04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R9236 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
127347138-127411672 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127378312 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 1024
(N1024S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044432
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043108]
[ENSMUST00000196141]
[ENSMUST00000196341]
[ENSMUST00000199888]
[ENSMUST00000200490]
|
AlphaFold |
Q0VGT4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043108
AA Change: N1024S
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000044432 Gene: ENSMUSG00000051278 AA Change: N1024S
Domain | Start | End | E-Value | Type |
Pfam:DUF2439
|
3 |
81 |
3.7e-23 |
PFAM |
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
low complexity region
|
896 |
906 |
N/A |
INTRINSIC |
Pfam:zf-GRF
|
1109 |
1153 |
1.5e-17 |
PFAM |
low complexity region
|
1316 |
1328 |
N/A |
INTRINSIC |
Pfam:AAA_11
|
1501 |
1608 |
1.6e-21 |
PFAM |
Pfam:AAA_12
|
1616 |
1802 |
1.3e-51 |
PFAM |
coiled coil region
|
1833 |
1861 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196141
AA Change: N1024S
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000143761 Gene: ENSMUSG00000051278 AA Change: N1024S
Domain | Start | End | E-Value | Type |
Pfam:DUF2439
|
3 |
81 |
3.7e-23 |
PFAM |
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
low complexity region
|
896 |
906 |
N/A |
INTRINSIC |
Pfam:zf-GRF
|
1109 |
1153 |
1.5e-17 |
PFAM |
low complexity region
|
1316 |
1328 |
N/A |
INTRINSIC |
Pfam:AAA_11
|
1501 |
1608 |
1.6e-21 |
PFAM |
Pfam:AAA_12
|
1616 |
1802 |
1.3e-51 |
PFAM |
coiled coil region
|
1833 |
1861 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196341
AA Change: N140S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000143570 Gene: ENSMUSG00000051278 AA Change: N140S
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
Pfam:zf-GRF
|
225 |
269 |
6.7e-15 |
PFAM |
low complexity region
|
432 |
444 |
N/A |
INTRINSIC |
Pfam:AAA_11
|
491 |
659 |
7.1e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199888
|
SMART Domains |
Protein: ENSMUSP00000142693 Gene: ENSMUSG00000051278
Domain | Start | End | E-Value | Type |
Pfam:DUF2439
|
3 |
82 |
3.5e-22 |
PFAM |
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200490
|
SMART Domains |
Protein: ENSMUSP00000143585 Gene: ENSMUSG00000051278
Domain | Start | End | E-Value | Type |
Pfam:DUF2439
|
3 |
81 |
3.4e-20 |
PFAM |
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
A |
G |
17: 24,626,712 (GRCm39) |
T1514A |
probably benign |
Het |
Abcb1b |
G |
A |
5: 8,874,893 (GRCm39) |
|
probably null |
Het |
Adam12 |
A |
C |
7: 133,614,022 (GRCm39) |
L109R |
probably benign |
Het |
Adgre1 |
T |
A |
17: 57,709,782 (GRCm39) |
Y146* |
probably null |
Het |
Ap5m1 |
G |
T |
14: 49,311,064 (GRCm39) |
V45L |
probably benign |
Het |
Bpifa5 |
A |
T |
2: 154,006,150 (GRCm39) |
I113F |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,600,424 (GRCm39) |
M1639K |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,915,051 (GRCm39) |
E974G |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,428,125 (GRCm39) |
C980R |
probably damaging |
Het |
Cggbp1 |
C |
T |
16: 64,676,318 (GRCm39) |
A128V |
probably benign |
Het |
Col7a1 |
G |
T |
9: 108,789,684 (GRCm39) |
R898L |
unknown |
Het |
Cycs |
C |
T |
6: 50,543,507 (GRCm39) |
|
probably benign |
Het |
Cyp2c54 |
A |
T |
19: 40,060,938 (GRCm39) |
Y68* |
probably null |
Het |
Dock9 |
T |
C |
14: 121,876,970 (GRCm39) |
D467G |
probably damaging |
Het |
Eif2s1 |
A |
T |
12: 78,921,343 (GRCm39) |
I83L |
probably benign |
Het |
Eppk1 |
T |
A |
15: 75,990,510 (GRCm39) |
R2124* |
probably null |
Het |
Fkbp15 |
G |
C |
4: 62,254,664 (GRCm39) |
L279V |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 7,992,460 (GRCm39) |
V412A |
unknown |
Het |
Gfap |
A |
G |
11: 102,786,327 (GRCm39) |
I194T |
probably damaging |
Het |
Gpatch2 |
C |
A |
1: 186,965,977 (GRCm39) |
T350K |
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,490,643 (GRCm39) |
G783D |
possibly damaging |
Het |
Hipk1 |
A |
T |
3: 103,671,789 (GRCm39) |
W437R |
probably damaging |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Hr |
C |
T |
14: 70,809,396 (GRCm39) |
P1136S |
probably damaging |
Het |
Il1rl2 |
T |
A |
1: 40,368,221 (GRCm39) |
N130K |
probably damaging |
Het |
Kif13b |
A |
G |
14: 64,982,383 (GRCm39) |
I532V |
probably benign |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Lrba |
T |
A |
3: 86,261,066 (GRCm39) |
I1474K |
probably benign |
Het |
Luc7l3 |
T |
C |
11: 94,186,772 (GRCm39) |
E371G |
unknown |
Het |
Myo5b |
T |
A |
18: 74,853,934 (GRCm39) |
D1184E |
probably benign |
Het |
N4bp2l2 |
T |
C |
5: 150,585,734 (GRCm39) |
H82R |
probably benign |
Het |
N4bp2l2 |
A |
G |
5: 150,585,479 (GRCm39) |
M167T |
probably benign |
Het |
Ndufaf1 |
T |
C |
2: 119,490,712 (GRCm39) |
E118G |
possibly damaging |
Het |
Nedd9 |
A |
T |
13: 41,492,153 (GRCm39) |
V119E |
possibly damaging |
Het |
Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
Ntmt1 |
T |
A |
2: 30,712,407 (GRCm39) |
L150Q |
probably damaging |
Het |
Or5b99 |
G |
T |
19: 12,976,763 (GRCm39) |
V138F |
probably damaging |
Het |
Or7g21 |
A |
G |
9: 19,033,206 (GRCm39) |
*315W |
probably null |
Het |
Or8b40 |
A |
T |
9: 38,027,496 (GRCm39) |
M140L |
possibly damaging |
Het |
Or8h7 |
C |
T |
2: 86,720,622 (GRCm39) |
S299N |
probably benign |
Het |
Osbpl8 |
A |
G |
10: 111,106,496 (GRCm39) |
N301S |
probably benign |
Het |
Pgm5 |
A |
T |
19: 24,839,003 (GRCm39) |
S51T |
probably benign |
Het |
Pitx2 |
A |
G |
3: 129,009,345 (GRCm39) |
K88R |
probably damaging |
Het |
Pnma8b |
A |
T |
7: 16,679,964 (GRCm39) |
D316V |
unknown |
Het |
Pop1 |
C |
A |
15: 34,499,558 (GRCm39) |
P41Q |
probably damaging |
Het |
Rcor1 |
A |
C |
12: 111,070,080 (GRCm39) |
K292N |
|
Het |
Rps6kc1 |
C |
T |
1: 190,532,200 (GRCm39) |
D601N |
probably damaging |
Het |
Sema7a |
A |
T |
9: 57,862,408 (GRCm39) |
I204F |
probably damaging |
Het |
Slc29a4 |
T |
C |
5: 142,698,702 (GRCm39) |
L121P |
probably damaging |
Het |
Slc4a2 |
A |
G |
5: 24,644,308 (GRCm39) |
T983A |
probably benign |
Het |
Slc4a4 |
C |
T |
5: 89,194,158 (GRCm39) |
R213* |
probably null |
Het |
Tbc1d2 |
G |
A |
4: 46,609,029 (GRCm39) |
T736I |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
Trip12 |
A |
C |
1: 84,703,550 (GRCm39) |
L1895R |
probably damaging |
Het |
Ttc41 |
A |
T |
10: 86,612,594 (GRCm39) |
Y1289F |
probably damaging |
Het |
Vmn1r70 |
G |
A |
7: 10,368,016 (GRCm39) |
C168Y |
probably damaging |
Het |
Vtcn1 |
C |
A |
3: 100,795,533 (GRCm39) |
R167S |
probably benign |
Het |
Zfp369 |
G |
A |
13: 65,445,010 (GRCm39) |
V718I |
probably benign |
Het |
Zfp608 |
T |
C |
18: 55,032,354 (GRCm39) |
T529A |
probably benign |
Het |
Zfp936 |
A |
G |
7: 42,836,922 (GRCm39) |
N46D |
probably benign |
Het |
Zfp974 |
A |
G |
7: 27,610,342 (GRCm39) |
V461A |
possibly damaging |
Het |
|
Other mutations in Zgrf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01088:Zgrf1
|
APN |
3 |
127,381,790 (GRCm39) |
splice site |
probably benign |
|
IGL01153:Zgrf1
|
APN |
3 |
127,396,055 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01330:Zgrf1
|
APN |
3 |
127,377,656 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01501:Zgrf1
|
APN |
3 |
127,396,211 (GRCm39) |
splice site |
probably null |
|
IGL01827:Zgrf1
|
APN |
3 |
127,409,930 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02600:Zgrf1
|
APN |
3 |
127,394,623 (GRCm39) |
splice site |
probably benign |
|
IGL03122:Zgrf1
|
APN |
3 |
127,381,782 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03365:Zgrf1
|
APN |
3 |
127,392,423 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0015_Zgrf1_014
|
UTSW |
3 |
127,349,046 (GRCm39) |
splice site |
probably benign |
|
R1298_Zgrf1_204
|
UTSW |
3 |
127,377,538 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7175_zgrf1_533
|
UTSW |
3 |
127,357,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Zgrf1
|
UTSW |
3 |
127,349,046 (GRCm39) |
splice site |
probably benign |
|
R0243:Zgrf1
|
UTSW |
3 |
127,409,095 (GRCm39) |
missense |
probably damaging |
0.99 |
R0468:Zgrf1
|
UTSW |
3 |
127,355,690 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0497:Zgrf1
|
UTSW |
3 |
127,378,299 (GRCm39) |
splice site |
probably benign |
|
R0505:Zgrf1
|
UTSW |
3 |
127,366,887 (GRCm39) |
missense |
probably benign |
0.30 |
R0511:Zgrf1
|
UTSW |
3 |
127,378,309 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0539:Zgrf1
|
UTSW |
3 |
127,408,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Zgrf1
|
UTSW |
3 |
127,381,687 (GRCm39) |
missense |
probably benign |
0.39 |
R1298:Zgrf1
|
UTSW |
3 |
127,377,538 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1353:Zgrf1
|
UTSW |
3 |
127,405,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R1593:Zgrf1
|
UTSW |
3 |
127,354,675 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1846:Zgrf1
|
UTSW |
3 |
127,409,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Zgrf1
|
UTSW |
3 |
127,356,786 (GRCm39) |
missense |
probably benign |
|
R2062:Zgrf1
|
UTSW |
3 |
127,406,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R2064:Zgrf1
|
UTSW |
3 |
127,406,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R2065:Zgrf1
|
UTSW |
3 |
127,406,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R2066:Zgrf1
|
UTSW |
3 |
127,406,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Zgrf1
|
UTSW |
3 |
127,406,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R2256:Zgrf1
|
UTSW |
3 |
127,355,646 (GRCm39) |
missense |
probably benign |
0.18 |
R2321:Zgrf1
|
UTSW |
3 |
127,356,056 (GRCm39) |
nonsense |
probably null |
|
R2381:Zgrf1
|
UTSW |
3 |
127,349,863 (GRCm39) |
missense |
probably benign |
0.02 |
R2913:Zgrf1
|
UTSW |
3 |
127,392,356 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3147:Zgrf1
|
UTSW |
3 |
127,377,797 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3236:Zgrf1
|
UTSW |
3 |
127,407,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R3237:Zgrf1
|
UTSW |
3 |
127,407,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R4433:Zgrf1
|
UTSW |
3 |
127,355,727 (GRCm39) |
missense |
probably benign |
|
R4441:Zgrf1
|
UTSW |
3 |
127,379,786 (GRCm39) |
missense |
possibly damaging |
0.45 |
R4457:Zgrf1
|
UTSW |
3 |
127,389,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R4498:Zgrf1
|
UTSW |
3 |
127,379,749 (GRCm39) |
nonsense |
probably null |
|
R4598:Zgrf1
|
UTSW |
3 |
127,394,679 (GRCm39) |
missense |
probably benign |
0.14 |
R4701:Zgrf1
|
UTSW |
3 |
127,392,353 (GRCm39) |
missense |
probably benign |
0.03 |
R4898:Zgrf1
|
UTSW |
3 |
127,396,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R4944:Zgrf1
|
UTSW |
3 |
127,355,517 (GRCm39) |
nonsense |
probably null |
|
R5256:Zgrf1
|
UTSW |
3 |
127,396,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R5294:Zgrf1
|
UTSW |
3 |
127,394,629 (GRCm39) |
missense |
probably benign |
0.14 |
R5358:Zgrf1
|
UTSW |
3 |
127,361,352 (GRCm39) |
critical splice donor site |
probably null |
|
R5359:Zgrf1
|
UTSW |
3 |
127,394,814 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5447:Zgrf1
|
UTSW |
3 |
127,356,768 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5569:Zgrf1
|
UTSW |
3 |
127,354,674 (GRCm39) |
missense |
probably benign |
0.33 |
R5887:Zgrf1
|
UTSW |
3 |
127,378,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R5914:Zgrf1
|
UTSW |
3 |
127,354,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R5925:Zgrf1
|
UTSW |
3 |
127,366,853 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5936:Zgrf1
|
UTSW |
3 |
127,355,902 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6087:Zgrf1
|
UTSW |
3 |
127,409,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R6089:Zgrf1
|
UTSW |
3 |
127,389,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R6181:Zgrf1
|
UTSW |
3 |
127,381,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R6277:Zgrf1
|
UTSW |
3 |
127,392,461 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6441:Zgrf1
|
UTSW |
3 |
127,381,683 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6659:Zgrf1
|
UTSW |
3 |
127,410,155 (GRCm39) |
missense |
probably damaging |
0.99 |
R6857:Zgrf1
|
UTSW |
3 |
127,375,096 (GRCm39) |
missense |
probably damaging |
0.99 |
R6932:Zgrf1
|
UTSW |
3 |
127,353,281 (GRCm39) |
critical splice donor site |
probably null |
|
R7008:Zgrf1
|
UTSW |
3 |
127,355,421 (GRCm39) |
missense |
probably benign |
0.18 |
R7175:Zgrf1
|
UTSW |
3 |
127,357,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R7264:Zgrf1
|
UTSW |
3 |
127,357,218 (GRCm39) |
missense |
probably benign |
0.00 |
R7272:Zgrf1
|
UTSW |
3 |
127,392,409 (GRCm39) |
missense |
probably damaging |
0.99 |
R7298:Zgrf1
|
UTSW |
3 |
127,377,299 (GRCm39) |
nonsense |
probably null |
|
R7412:Zgrf1
|
UTSW |
3 |
127,356,720 (GRCm39) |
missense |
probably benign |
0.06 |
R7836:Zgrf1
|
UTSW |
3 |
127,357,080 (GRCm39) |
missense |
probably damaging |
0.96 |
R7945:Zgrf1
|
UTSW |
3 |
127,356,409 (GRCm39) |
missense |
probably benign |
0.37 |
R7996:Zgrf1
|
UTSW |
3 |
127,389,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8165:Zgrf1
|
UTSW |
3 |
127,357,032 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8198:Zgrf1
|
UTSW |
3 |
127,389,673 (GRCm39) |
critical splice donor site |
probably null |
|
R8296:Zgrf1
|
UTSW |
3 |
127,377,644 (GRCm39) |
missense |
probably damaging |
0.99 |
R8298:Zgrf1
|
UTSW |
3 |
127,408,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:Zgrf1
|
UTSW |
3 |
127,354,564 (GRCm39) |
nonsense |
probably null |
|
R8445:Zgrf1
|
UTSW |
3 |
127,379,854 (GRCm39) |
critical splice donor site |
probably null |
|
R9088:Zgrf1
|
UTSW |
3 |
127,377,326 (GRCm39) |
missense |
probably benign |
0.21 |
R9250:Zgrf1
|
UTSW |
3 |
127,379,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:Zgrf1
|
UTSW |
3 |
127,392,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R9464:Zgrf1
|
UTSW |
3 |
127,377,741 (GRCm39) |
missense |
probably benign |
0.03 |
R9647:Zgrf1
|
UTSW |
3 |
127,355,251 (GRCm39) |
missense |
probably benign |
0.02 |
R9680:Zgrf1
|
UTSW |
3 |
127,409,216 (GRCm39) |
missense |
probably benign |
0.38 |
RF015:Zgrf1
|
UTSW |
3 |
127,356,882 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTACTGATCTCCCTGTGATTG -3'
(R):5'- TACTCACACCAAGTAATGTCAGTC -3'
Sequencing Primer
(F):5'- GGCACACACATCTATTCCAAATTTG -3'
(R):5'- GTCAGTCAGAATAAAAACGTAACAGC -3'
|
Posted On |
2022-02-07 |