Incidental Mutation 'R4944:Zgrf1'
ID |
383329 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zgrf1
|
Ensembl Gene |
ENSMUSG00000051278 |
Gene Name |
zinc finger, GRF-type containing 1 |
Synonyms |
4930422G04Rik |
MMRRC Submission |
042541-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R4944 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
127347138-127411672 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 127355517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 248
(Q248*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043108]
[ENSMUST00000195955]
[ENSMUST00000196141]
[ENSMUST00000199888]
[ENSMUST00000200490]
|
AlphaFold |
Q0VGT4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043108
AA Change: Q248*
|
SMART Domains |
Protein: ENSMUSP00000044432 Gene: ENSMUSG00000051278 AA Change: Q248*
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 null
Transcript: ENSMUST00000195955
AA Change: Q248*
|
SMART Domains |
Protein: ENSMUSP00000142886 Gene: ENSMUSG00000051278 AA Change: Q248*
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 null
Transcript: ENSMUST00000196141
AA Change: Q248*
|
SMART Domains |
Protein: ENSMUSP00000143761 Gene: ENSMUSG00000051278 AA Change: Q248*
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 null
Transcript: ENSMUST00000199888
AA Change: Q248*
|
SMART Domains |
Protein: ENSMUSP00000142693 Gene: ENSMUSG00000051278 AA Change: Q248*
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 null
Transcript: ENSMUST00000200490
AA Change: Q248*
|
SMART Domains |
Protein: ENSMUSP00000143585 Gene: ENSMUSG00000051278 AA Change: Q248*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
G |
A |
5: 8,984,327 (GRCm39) |
|
probably null |
Het |
Angptl7 |
C |
G |
4: 148,584,534 (GRCm39) |
Q71H |
probably damaging |
Het |
Arhgap30 |
A |
T |
1: 171,229,822 (GRCm39) |
N176Y |
probably damaging |
Het |
Armc9 |
T |
A |
1: 86,202,256 (GRCm39) |
S805T |
probably damaging |
Het |
Atxn1 |
T |
G |
13: 45,720,407 (GRCm39) |
H496P |
probably damaging |
Het |
Cabin1 |
C |
T |
10: 75,557,197 (GRCm39) |
G1147D |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,575,255 (GRCm39) |
S597P |
probably damaging |
Het |
Catsperd |
T |
C |
17: 56,969,744 (GRCm39) |
S613P |
probably damaging |
Het |
Cdh2 |
A |
G |
18: 16,783,466 (GRCm39) |
Y88H |
probably damaging |
Het |
Cntn1 |
C |
A |
15: 92,126,549 (GRCm39) |
P47Q |
probably damaging |
Het |
Col11a2 |
T |
C |
17: 34,261,164 (GRCm39) |
L38P |
possibly damaging |
Het |
Col5a2 |
T |
G |
1: 45,415,855 (GRCm39) |
I1431L |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 16,048,772 (GRCm39) |
G2310D |
probably damaging |
Het |
Dhcr7 |
T |
A |
7: 143,391,528 (GRCm39) |
I39N |
probably damaging |
Het |
Dnajc13 |
C |
T |
9: 104,044,586 (GRCm39) |
|
probably benign |
Het |
Drgx |
G |
T |
14: 32,330,206 (GRCm39) |
Q136H |
probably damaging |
Het |
Folr2 |
T |
C |
7: 101,489,497 (GRCm39) |
|
probably null |
Het |
Galnt11 |
T |
C |
5: 25,470,336 (GRCm39) |
I595T |
probably damaging |
Het |
Gp5 |
G |
A |
16: 30,128,326 (GRCm39) |
A116V |
possibly damaging |
Het |
Gpn3 |
T |
C |
5: 122,520,303 (GRCm39) |
|
probably benign |
Het |
Gprin3 |
T |
C |
6: 59,331,644 (GRCm39) |
N221S |
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,022,079 (GRCm39) |
E989G |
possibly damaging |
Het |
Ints1 |
T |
C |
5: 139,743,847 (GRCm39) |
|
probably null |
Het |
Josd2 |
T |
C |
7: 44,120,592 (GRCm39) |
S110P |
probably damaging |
Het |
Kat14 |
C |
A |
2: 144,217,873 (GRCm39) |
T123K |
probably damaging |
Het |
Lamtor1 |
C |
T |
7: 101,558,971 (GRCm39) |
T48I |
probably damaging |
Het |
Lrrc24 |
A |
G |
15: 76,602,546 (GRCm39) |
L113P |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,504,286 (GRCm39) |
T2561A |
possibly damaging |
Het |
Mog |
T |
C |
17: 37,331,433 (GRCm39) |
E89G |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,874,364 (GRCm39) |
|
probably null |
Het |
Mtx1 |
T |
C |
3: 89,121,205 (GRCm39) |
Y143C |
probably benign |
Het |
Nacad |
T |
C |
11: 6,548,507 (GRCm39) |
E1409G |
possibly damaging |
Het |
Ndst3 |
T |
C |
3: 123,400,676 (GRCm39) |
H410R |
probably damaging |
Het |
Nkx6-2 |
T |
C |
7: 139,161,486 (GRCm39) |
E233G |
possibly damaging |
Het |
Oas1h |
A |
G |
5: 121,000,846 (GRCm39) |
E152G |
probably damaging |
Het |
Or8g22 |
A |
G |
9: 38,958,158 (GRCm39) |
S186P |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,887,269 (GRCm39) |
F222L |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,358,429 (GRCm39) |
S2716G |
probably null |
Het |
Pla2g4e |
T |
C |
2: 120,001,718 (GRCm39) |
T644A |
probably benign |
Het |
Plxnd1 |
A |
G |
6: 115,932,726 (GRCm39) |
I1918T |
probably damaging |
Het |
Psmg1 |
A |
T |
16: 95,790,812 (GRCm39) |
|
probably benign |
Het |
Ptprd |
G |
A |
4: 76,047,136 (GRCm39) |
R364C |
probably damaging |
Het |
Rgs22 |
T |
C |
15: 36,026,088 (GRCm39) |
I945V |
possibly damaging |
Het |
Rgs7bp |
T |
C |
13: 105,088,072 (GRCm39) |
N234S |
probably benign |
Het |
Rrp7a |
T |
C |
15: 83,004,010 (GRCm39) |
|
probably benign |
Het |
Scg2 |
T |
A |
1: 79,414,193 (GRCm39) |
R177* |
probably null |
Het |
Sema4c |
C |
A |
1: 36,589,392 (GRCm39) |
C578F |
probably damaging |
Het |
Slc1a5 |
T |
A |
7: 16,531,668 (GRCm39) |
|
probably benign |
Het |
Slc5a3 |
A |
G |
16: 91,875,571 (GRCm39) |
T543A |
possibly damaging |
Het |
Slx4ip |
T |
A |
2: 136,888,687 (GRCm39) |
F123I |
probably benign |
Het |
Smtn |
C |
T |
11: 3,472,916 (GRCm39) |
R737H |
probably damaging |
Het |
Stox2 |
A |
G |
8: 47,866,300 (GRCm39) |
I14T |
possibly damaging |
Het |
Stradb |
T |
C |
1: 59,019,599 (GRCm39) |
F43L |
probably benign |
Het |
Szt2 |
T |
C |
4: 118,245,866 (GRCm39) |
D1029G |
probably benign |
Het |
Taar6 |
T |
C |
10: 23,860,613 (GRCm39) |
Y311C |
probably damaging |
Het |
Tcea3 |
A |
T |
4: 135,995,404 (GRCm39) |
N249I |
probably damaging |
Het |
Tecta |
A |
G |
9: 42,241,573 (GRCm39) |
M2134T |
probably benign |
Het |
Tg |
G |
A |
15: 66,636,186 (GRCm39) |
G591D |
probably damaging |
Het |
Tm4sf20 |
T |
A |
1: 82,746,084 (GRCm39) |
I19F |
probably benign |
Het |
Top2a |
T |
C |
11: 98,888,676 (GRCm39) |
K1262E |
probably benign |
Het |
Ube2r2 |
A |
G |
4: 41,190,742 (GRCm39) |
|
probably benign |
Het |
Usp29 |
T |
C |
7: 6,964,927 (GRCm39) |
S257P |
possibly damaging |
Het |
Usp40 |
T |
C |
1: 87,880,077 (GRCm39) |
N1038S |
probably benign |
Het |
Utp25 |
A |
T |
1: 192,797,262 (GRCm39) |
M530K |
probably damaging |
Het |
Vmn1r121 |
C |
T |
7: 20,831,538 (GRCm39) |
E301K |
probably benign |
Het |
Vmn2r49 |
T |
A |
7: 9,722,959 (GRCm39) |
H105L |
probably benign |
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 |
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'- TGTCAACGGATAATCAGAGTCCC -3'
(R):5'- ACAGCGTAAATTCCCTATGCTC -3'
Sequencing Primer
(F):5'- GAGAGAGAAGCGACACACCTTTATC -3'
(R):5'- ATGCTCTGTGTTTCTGCATAGTC -3'
|
Posted On |
2016-04-27 |