Incidental Mutation 'R5447:Zgrf1'
ID |
429119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zgrf1
|
Ensembl Gene |
ENSMUSG00000051278 |
Gene Name |
zinc finger, GRF-type containing 1 |
Synonyms |
4930422G04Rik |
MMRRC Submission |
043012-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R5447 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
127347138-127411672 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127356768 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 665
(S665P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043108]
[ENSMUST00000195955]
[ENSMUST00000196141]
[ENSMUST00000199888]
[ENSMUST00000200490]
|
AlphaFold |
Q0VGT4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043108
AA Change: S665P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000044432 Gene: ENSMUSG00000051278 AA Change: S665P
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 |
possibly damaging
Transcript: ENSMUST00000195955
AA Change: S665P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142886 Gene: ENSMUSG00000051278 AA Change: S665P
Domain | Start | End | E-Value | Type |
Pfam:DUF2439
|
3 |
82 |
1.6e-25 |
PFAM |
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196141
AA Change: S665P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143761 Gene: ENSMUSG00000051278 AA Change: S665P
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 |
possibly damaging
Transcript: ENSMUST00000199888
AA Change: S665P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142693 Gene: ENSMUSG00000051278 AA Change: S665P
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 |
possibly damaging
Transcript: ENSMUST00000200490
AA Change: S665P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143585 Gene: ENSMUSG00000051278 AA Change: S665P
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (71/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
C |
12: 118,891,061 (GRCm39) |
I479V |
probably damaging |
Het |
Adam30 |
A |
G |
3: 98,068,659 (GRCm39) |
D164G |
probably benign |
Het |
Adgrl3 |
T |
A |
5: 81,613,188 (GRCm39) |
|
probably benign |
Het |
Adrb1 |
T |
C |
19: 56,711,519 (GRCm39) |
I239T |
probably benign |
Het |
Albfm1 |
C |
A |
5: 90,732,169 (GRCm39) |
A458E |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,192,018 (GRCm39) |
T572A |
probably benign |
Het |
Baz2b |
T |
C |
2: 59,744,332 (GRCm39) |
E1391G |
probably damaging |
Het |
BC016579 |
A |
G |
16: 45,469,252 (GRCm39) |
V72A |
probably benign |
Het |
Btnl10 |
A |
T |
11: 58,813,144 (GRCm39) |
I258F |
probably benign |
Het |
Cdh5 |
A |
T |
8: 104,855,994 (GRCm39) |
D309V |
probably damaging |
Het |
Cdhr2 |
A |
G |
13: 54,881,063 (GRCm39) |
D1042G |
probably damaging |
Het |
Clk2 |
G |
T |
3: 89,074,498 (GRCm39) |
V53F |
possibly damaging |
Het |
Cyfip2 |
T |
C |
11: 46,182,413 (GRCm39) |
D15G |
possibly damaging |
Het |
Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,721,240 (GRCm39) |
Y1836C |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,172,245 (GRCm39) |
F1905L |
probably damaging |
Het |
E130114P18Rik |
A |
G |
4: 97,578,955 (GRCm39) |
S7P |
unknown |
Het |
Fam110a |
T |
C |
2: 151,812,629 (GRCm39) |
E47G |
probably damaging |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Helb |
T |
A |
10: 119,938,806 (GRCm39) |
D556V |
possibly damaging |
Het |
Hoxd4 |
A |
G |
2: 74,557,687 (GRCm39) |
E22G |
probably damaging |
Het |
Hsd17b8 |
A |
T |
17: 34,245,886 (GRCm39) |
V202D |
probably damaging |
Het |
Il1rl2 |
T |
G |
1: 40,368,316 (GRCm39) |
I162R |
probably damaging |
Het |
Lhfpl5 |
A |
G |
17: 28,795,071 (GRCm39) |
T33A |
probably damaging |
Het |
Mapk8ip3 |
G |
A |
17: 25,118,163 (GRCm39) |
A1283V |
probably benign |
Het |
Mettl13 |
A |
G |
1: 162,363,449 (GRCm39) |
V227A |
probably benign |
Het |
Mmgt2 |
T |
A |
11: 62,555,824 (GRCm39) |
C57* |
probably null |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Mylk2 |
T |
C |
2: 152,754,430 (GRCm39) |
S175P |
probably damaging |
Het |
Neu4 |
C |
T |
1: 93,950,140 (GRCm39) |
T33M |
probably damaging |
Het |
Nfs1 |
C |
T |
2: 155,984,056 (GRCm39) |
R107H |
probably benign |
Het |
Nfxl1 |
C |
T |
5: 72,686,512 (GRCm39) |
R563Q |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,612,495 (GRCm39) |
D70G |
probably benign |
Het |
Nup160 |
C |
A |
2: 90,555,959 (GRCm39) |
Q1220K |
possibly damaging |
Het |
Or1ad8 |
G |
A |
11: 50,898,170 (GRCm39) |
V124M |
possibly damaging |
Het |
Or1e22 |
A |
G |
11: 73,377,002 (GRCm39) |
V216A |
probably benign |
Het |
Or52s6 |
A |
C |
7: 103,092,147 (GRCm39) |
M61R |
probably damaging |
Het |
Or5k8 |
A |
T |
16: 58,644,846 (GRCm39) |
C75* |
probably null |
Het |
Pdgfrb |
T |
A |
18: 61,201,180 (GRCm39) |
V422E |
probably damaging |
Het |
Pear1 |
G |
A |
3: 87,666,449 (GRCm39) |
R85C |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,309,609 (GRCm39) |
M2780L |
probably benign |
Het |
Ppp4r4 |
T |
C |
12: 103,550,410 (GRCm39) |
V62A |
possibly damaging |
Het |
Prol1 |
C |
T |
5: 88,476,125 (GRCm39) |
P172S |
unknown |
Het |
Proz |
A |
G |
8: 13,122,578 (GRCm39) |
I231V |
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,675,059 (GRCm39) |
M718L |
probably benign |
Het |
Ptprs |
A |
G |
17: 56,736,128 (GRCm39) |
C102R |
possibly damaging |
Het |
Robo2 |
A |
T |
16: 73,770,654 (GRCm39) |
Y490* |
probably null |
Het |
Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Skint6 |
T |
A |
4: 112,963,106 (GRCm39) |
S442C |
probably benign |
Het |
Snw1 |
T |
C |
12: 87,502,485 (GRCm39) |
E303G |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Stk10 |
C |
T |
11: 32,554,166 (GRCm39) |
Q618* |
probably null |
Het |
Tmc3 |
A |
T |
7: 83,271,569 (GRCm39) |
E907V |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,729,451 (GRCm39) |
|
probably benign |
Het |
Vps39 |
T |
C |
2: 120,183,413 (GRCm39) |
D19G |
probably benign |
Het |
Zan |
T |
C |
5: 137,470,453 (GRCm39) |
S229G |
probably damaging |
Het |
Zfp141 |
A |
T |
7: 42,124,983 (GRCm39) |
C496* |
probably null |
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 |
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 |
R9236:Zgrf1
|
UTSW |
3 |
127,378,312 (GRCm39) |
missense |
probably benign |
0.09 |
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'- GGTTTCAATTCAGGACCTCATGG -3'
(R):5'- TCAAAGTGATCCTGAGTGGTACTC -3'
Sequencing Primer
(F):5'- TCAATTCAGGACCTCATGGAGATG -3'
(R):5'- TGGCCACTAATGTCACTGCTAGAG -3'
|
Posted On |
2016-09-06 |