Incidental Mutation 'R8165:Zgrf1'
| ID |
633708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zgrf1
|
| Ensembl Gene |
ENSMUSG00000051278 |
| Gene Name |
zinc finger, GRF-type containing 1 |
| Synonyms |
4930422G04Rik |
| MMRRC Submission |
067591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R8165 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
127347138-127411672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127357032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 753
(F753I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142886
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043108]
[ENSMUST00000195955]
[ENSMUST00000196141]
[ENSMUST00000199888]
[ENSMUST00000200490]
|
| AlphaFold |
Q0VGT4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043108
|
| SMART Domains |
Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
| 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: F753I
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142886
Gene: ENSMUSG00000051278
AA Change: F753I
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
| 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: 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
C |
A |
5: 64,055,289 (GRCm39) |
|
probably null |
Het |
| Amph |
A |
G |
13: 19,279,007 (GRCm39) |
K161E |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,348,088 (GRCm39) |
H602L |
probably benign |
Het |
| Areg |
A |
G |
5: 91,291,492 (GRCm39) |
N145S |
probably damaging |
Het |
| Arhgap29 |
C |
T |
3: 121,782,222 (GRCm39) |
T142I |
probably damaging |
Het |
| Bcar3 |
C |
T |
3: 122,304,805 (GRCm39) |
|
probably benign |
Het |
| Brpf3 |
C |
T |
17: 29,025,248 (GRCm39) |
A107V |
probably benign |
Het |
| Btnl2 |
T |
A |
17: 34,587,682 (GRCm39) |
S509T |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,402,653 (GRCm39) |
|
probably null |
Het |
| Casz1 |
C |
T |
4: 149,028,888 (GRCm39) |
P1111L |
probably damaging |
Het |
| Ccdc91 |
C |
T |
6: 147,533,086 (GRCm39) |
T411I |
unknown |
Het |
| Chd9 |
A |
C |
8: 91,767,769 (GRCm39) |
E2422A |
probably damaging |
Het |
| Clrn3 |
T |
C |
7: 135,130,133 (GRCm39) |
I34V |
probably benign |
Het |
| Cnksr3 |
C |
T |
10: 7,104,467 (GRCm39) |
D79N |
probably damaging |
Het |
| Cops8 |
A |
G |
1: 90,539,729 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
A |
G |
6: 30,564,345 (GRCm39) |
K392R |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
| Dnase1l3 |
T |
C |
14: 7,994,299 (GRCm38) |
|
probably benign |
Het |
| Gdpd5 |
A |
T |
7: 99,105,689 (GRCm39) |
T502S |
probably benign |
Het |
| Gp2 |
A |
T |
7: 119,049,375 (GRCm39) |
D387E |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,242,364 (GRCm39) |
L160P |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,522,409 (GRCm39) |
T3497M |
probably benign |
Het |
| Idh3b |
T |
A |
2: 130,122,420 (GRCm39) |
T322S |
possibly damaging |
Het |
| Kit |
A |
T |
5: 75,781,540 (GRCm39) |
N323I |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,806,246 (GRCm39) |
S445G |
unknown |
Het |
| Lin54 |
A |
G |
5: 100,602,358 (GRCm39) |
V393A |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,872,945 (GRCm39) |
W2715R |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
| Med7 |
T |
A |
11: 46,332,073 (GRCm39) |
C223S |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,053,298 (GRCm39) |
L1823Q |
probably damaging |
Het |
| Mga |
C |
A |
2: 119,777,719 (GRCm39) |
Q1755K |
probably benign |
Het |
| Mgat4b |
A |
T |
11: 50,101,801 (GRCm39) |
N22I |
probably benign |
Het |
| Ndufb6 |
C |
T |
4: 40,270,665 (GRCm39) |
|
probably null |
Het |
| Neil3 |
A |
G |
8: 54,042,129 (GRCm39) |
L490P |
probably benign |
Het |
| Nek9 |
C |
T |
12: 85,350,417 (GRCm39) |
V886I |
probably benign |
Het |
| Nol4l |
A |
T |
2: 153,262,473 (GRCm39) |
Y366* |
probably null |
Het |
| Nt5dc2 |
A |
G |
14: 30,860,886 (GRCm39) |
T354A |
probably damaging |
Het |
| Or1j11 |
T |
A |
2: 36,311,715 (GRCm39) |
Y102N |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,149,655 (GRCm39) |
|
probably null |
Het |
| Phf1 |
T |
C |
17: 27,156,044 (GRCm39) |
F444L |
possibly damaging |
Het |
| Plin4 |
G |
A |
17: 56,414,019 (GRCm39) |
T202I |
possibly damaging |
Het |
| Plk4 |
G |
C |
3: 40,768,009 (GRCm39) |
V851L |
probably damaging |
Het |
| Pp2d1 |
A |
G |
17: 53,822,257 (GRCm39) |
S270P |
probably damaging |
Het |
| Ripor1 |
C |
A |
8: 106,347,520 (GRCm39) |
L1028M |
unknown |
Het |
| Scn9a |
A |
G |
2: 66,370,874 (GRCm39) |
F569L |
probably damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,104,626 (GRCm39) |
L306F |
probably damaging |
Het |
| Spic |
A |
T |
10: 88,513,428 (GRCm39) |
S86T |
probably damaging |
Het |
| Spmip10 |
T |
A |
18: 56,722,547 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,836,668 (GRCm39) |
N278S |
probably benign |
Het |
| Taar7d |
T |
A |
10: 23,903,495 (GRCm39) |
F126I |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,824,345 (GRCm39) |
E869G |
possibly damaging |
Het |
| Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
| Terf2 |
T |
C |
8: 107,809,656 (GRCm39) |
K221E |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,468,962 (GRCm39) |
T539S |
|
Het |
| Tll2 |
A |
G |
19: 41,077,313 (GRCm39) |
F818L |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,200,959 (GRCm39) |
T427A |
possibly damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,952 (GRCm39) |
Q1419K |
possibly damaging |
Het |
| Vill |
T |
A |
9: 118,895,821 (GRCm39) |
F511Y |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,542,128 (GRCm39) |
D1521E |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,766,072 (GRCm39) |
D63G |
probably benign |
Het |
| Vrk2 |
A |
G |
11: 26,485,575 (GRCm39) |
F138L |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,735,775 (GRCm39) |
I514T |
probably 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 |
|
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'- AGAACAGTGACCTGCTCTCAG -3'
(R):5'- GCTCAGACTGTGACTTTAAAAGG -3'
Sequencing Primer
(F):5'- TGCTCTCAGAAGGTACCCAG -3'
(R):5'- CAGACTGTGACTTTAAAAGGGACATG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation