Incidental Mutation 'R4433:Zgrf1'
| ID |
328684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zgrf1
|
| Ensembl Gene |
ENSMUSG00000051278 |
| Gene Name |
zinc finger, GRF-type containing 1 |
| Synonyms |
4930422G04Rik |
| MMRRC Submission |
041147-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4433 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
127347138-127411672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127355727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 318
(T318A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043108]
[ENSMUST00000195955]
[ENSMUST00000196141]
[ENSMUST00000199888]
[ENSMUST00000200490]
|
| AlphaFold |
Q0VGT4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043108
AA Change: T318A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: T318A
| 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: ENSMUST00000195955
AA Change: T318A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142886
Gene: ENSMUSG00000051278
AA Change: T318A
| 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 |
probably benign
Transcript: ENSMUST00000196141
AA Change: T318A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: T318A
| 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 |
noncoding transcript
Transcript: ENSMUST00000196949
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199888
AA Change: T318A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142693
Gene: ENSMUSG00000051278
AA Change: T318A
| 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
AA Change: T318A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278
AA Change: T318A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,186,937 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
A |
G |
7: 119,153,732 (GRCm39) |
H14R |
unknown |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,069 (GRCm39) |
|
probably null |
Het |
| Ak5 |
A |
G |
3: 152,361,517 (GRCm39) |
I135T |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,206,236 (GRCm39) |
S1038* |
probably null |
Het |
| Ank2 |
A |
T |
3: 126,741,455 (GRCm39) |
|
probably benign |
Het |
| Ap2m1 |
A |
T |
16: 20,362,134 (GRCm39) |
H414L |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,100,842 (GRCm39) |
M649K |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Calhm6 |
T |
A |
10: 34,003,827 (GRCm39) |
T27S |
probably damaging |
Het |
| Cdc25b |
A |
G |
2: 131,033,618 (GRCm39) |
S186G |
probably benign |
Het |
| Ceacam16 |
A |
G |
7: 19,587,514 (GRCm39) |
V418A |
possibly damaging |
Het |
| Cntnap3 |
A |
C |
13: 64,926,667 (GRCm39) |
S568A |
possibly damaging |
Het |
| Col24a1 |
G |
T |
3: 145,020,144 (GRCm39) |
V172F |
possibly damaging |
Het |
| Dynlt4 |
C |
T |
4: 116,985,320 (GRCm39) |
R48C |
probably damaging |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Esp36 |
T |
A |
17: 38,729,847 (GRCm39) |
T15S |
unknown |
Het |
| Fat2 |
A |
T |
11: 55,200,466 (GRCm39) |
H869Q |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,942,448 (GRCm39) |
V1308A |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,742,880 (GRCm39) |
T17A |
possibly damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,044,459 (GRCm39) |
K13R |
probably benign |
Het |
| Hycc1 |
A |
C |
5: 24,184,579 (GRCm39) |
C218G |
possibly damaging |
Het |
| Kdr |
A |
G |
5: 76,104,585 (GRCm39) |
M1133T |
possibly damaging |
Het |
| Mgarp |
A |
G |
3: 51,303,681 (GRCm39) |
|
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,367,712 (GRCm39) |
T337I |
probably damaging |
Het |
| Nfib |
C |
T |
4: 82,416,672 (GRCm39) |
R137Q |
probably damaging |
Het |
| Nherf4 |
T |
C |
9: 44,159,285 (GRCm39) |
*499W |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,944,096 (GRCm39) |
E890G |
probably damaging |
Het |
| Nsun4 |
A |
G |
4: 115,897,327 (GRCm39) |
V228A |
possibly damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,689 (GRCm39) |
S263T |
probably benign |
Het |
| Ntm |
A |
T |
9: 28,923,516 (GRCm39) |
Y45* |
probably null |
Het |
| Nts |
A |
G |
10: 102,320,888 (GRCm39) |
V67A |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,316,537 (GRCm39) |
S91T |
possibly damaging |
Het |
| Or1e25 |
A |
G |
11: 73,493,712 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,757 (GRCm39) |
C209* |
probably null |
Het |
| Or51ag1 |
T |
A |
7: 103,155,346 (GRCm39) |
K269M |
probably benign |
Het |
| Ostm1 |
C |
A |
10: 42,555,119 (GRCm39) |
A47E |
probably benign |
Het |
| Otol1 |
G |
A |
3: 69,925,881 (GRCm39) |
V19M |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,608,565 (GRCm39) |
N599S |
probably damaging |
Het |
| Pcdhgb1 |
T |
C |
18: 37,814,304 (GRCm39) |
I265T |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,045,967 (GRCm39) |
E321G |
possibly damaging |
Het |
| Phactr3 |
C |
A |
2: 177,924,925 (GRCm39) |
R251S |
probably damaging |
Het |
| Pkdcc |
C |
T |
17: 83,528,570 (GRCm39) |
T313M |
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,755,745 (GRCm39) |
E1911V |
probably damaging |
Het |
| Ptprv |
G |
T |
1: 135,042,308 (GRCm39) |
|
noncoding transcript |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rhob |
A |
G |
12: 8,549,533 (GRCm39) |
Y34H |
possibly damaging |
Het |
| Slc27a3 |
G |
A |
3: 90,294,647 (GRCm39) |
T408M |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,419,829 (GRCm39) |
I1000F |
possibly damaging |
Het |
| Tcf7 |
G |
T |
11: 52,152,442 (GRCm39) |
P36T |
probably benign |
Het |
| Tcf7l1 |
C |
G |
6: 72,765,752 (GRCm39) |
E62Q |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,109,787 (GRCm39) |
S326P |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,014,954 (GRCm39) |
N288S |
probably benign |
Het |
| Zfhx3 |
G |
A |
8: 109,682,269 (GRCm39) |
R3236H |
unknown |
Het |
| Zfp764l1 |
T |
G |
7: 126,992,174 (GRCm39) |
Q87P |
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 |
|
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 |
|
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'- TAGACTCTCACTGTCCTGGAG -3'
(R):5'- ACTGGCTTGTCCTCACTGTG -3'
Sequencing Primer
(F):5'- GCAAAGCCCAGATATTAGCTCTTCTG -3'
(R):5'- GTGTAATTCTCCCTTTTTGGAACATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation