Incidental Mutation 'R1385:Zfand4'
| ID |
163212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfand4
|
| Ensembl Gene |
ENSMUSG00000042213 |
| Gene Name |
zinc finger, AN1-type domain 4 |
| Synonyms |
Anubl1, 2810002D23Rik |
| MMRRC Submission |
039447-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R1385 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
116241183-116307263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116250599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 10
(G10R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036503]
[ENSMUST00000112900]
[ENSMUST00000220845]
[ENSMUST00000222494]
[ENSMUST00000222819]
[ENSMUST00000223495]
|
| AlphaFold |
D3Z3C6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036503
AA Change: G10R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213
AA Change: G10R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
118 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
472 |
N/A |
INTRINSIC |
|
ZnF_AN1
|
554 |
592 |
4.18e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112900
AA Change: G10R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213
AA Change: G10R
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
54 |
125 |
4.11e-15 |
SMART |
|
low complexity region
|
262 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
616 |
N/A |
INTRINSIC |
|
ZnF_AN1
|
698 |
736 |
4.18e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220845
AA Change: G10R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221239
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222494
AA Change: G10R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222819
AA Change: G10R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223495
AA Change: G10R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
G |
18: 56,675,357 (GRCm39) |
S269P |
probably damaging |
Het |
| Arf3 |
A |
G |
15: 98,640,494 (GRCm39) |
V43A |
probably damaging |
Het |
| Arhgap1 |
C |
A |
2: 91,501,176 (GRCm39) |
N457K |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,626,503 (GRCm39) |
N399S |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,875,561 (GRCm39) |
E544K |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,291,138 (GRCm39) |
E1546G |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,838,861 (GRCm39) |
I900V |
probably benign |
Het |
| Edem1 |
A |
G |
6: 108,823,645 (GRCm39) |
N347S |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,544,251 (GRCm39) |
I112T |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,064,932 (GRCm39) |
|
probably null |
Het |
| Hunk |
T |
A |
16: 90,269,374 (GRCm39) |
V306E |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,249,836 (GRCm39) |
I2260V |
probably benign |
Het |
| Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
| Itgbl1 |
A |
G |
14: 123,898,923 (GRCm39) |
|
probably null |
Het |
| Iws1 |
T |
A |
18: 32,223,483 (GRCm39) |
N630K |
probably benign |
Het |
| Lama2 |
C |
A |
10: 27,100,039 (GRCm39) |
R822L |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,785,438 (GRCm39) |
D130G |
probably damaging |
Het |
| Mageb11 |
T |
A |
X: 89,935,874 (GRCm39) |
C43S |
probably benign |
Het |
| Malrd1 |
A |
T |
2: 16,047,039 (GRCm39) |
I1722F |
unknown |
Het |
| Mark4 |
G |
T |
7: 19,159,952 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,415,874 (GRCm39) |
V2940A |
probably benign |
Het |
| Mxd1 |
T |
A |
6: 86,628,549 (GRCm39) |
Q62L |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
| Nr2c2 |
T |
G |
6: 92,131,451 (GRCm39) |
F171C |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,102,356 (GRCm39) |
Q675L |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ocstamp |
T |
C |
2: 165,237,959 (GRCm39) |
D435G |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,411,108 (GRCm39) |
T553A |
probably benign |
Het |
| Pllp |
A |
G |
8: 95,405,996 (GRCm39) |
Y96H |
probably benign |
Het |
| Polg2 |
A |
G |
11: 106,659,149 (GRCm39) |
S455P |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,883,037 (GRCm39) |
T222A |
probably benign |
Het |
| Prkcd |
G |
A |
14: 30,329,362 (GRCm39) |
T26I |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,102,312 (GRCm39) |
I2490M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Scn9a |
G |
A |
2: 66,393,886 (GRCm39) |
P229L |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,803,853 (GRCm39) |
T180A |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sphk2 |
A |
G |
7: 45,361,715 (GRCm39) |
I82T |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Treml1 |
T |
G |
17: 48,667,226 (GRCm39) |
V37G |
probably damaging |
Het |
| Trim33 |
A |
G |
3: 103,218,266 (GRCm39) |
K272E |
possibly damaging |
Het |
| Trpv6 |
T |
C |
6: 41,598,063 (GRCm39) |
D748G |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,129,923 (GRCm39) |
H681R |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,325 (GRCm39) |
R775* |
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,211,863 (GRCm39) |
L8S |
probably damaging |
Het |
| Zfp119a |
T |
A |
17: 56,172,826 (GRCm39) |
H339L |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
|
| Other mutations in Zfand4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01415:Zfand4
|
APN |
6 |
116,291,830 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02001:Zfand4
|
APN |
6 |
116,250,613 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02047:Zfand4
|
APN |
6 |
116,291,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Zfand4
|
APN |
6 |
116,250,617 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02943:Zfand4
|
APN |
6 |
116,250,837 (GRCm39) |
splice site |
probably benign |
|
|
IGL03058:Zfand4
|
APN |
6 |
116,265,038 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03130:Zfand4
|
APN |
6 |
116,250,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03253:Zfand4
|
APN |
6 |
116,261,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Zfand4
|
UTSW |
6 |
116,261,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Zfand4
|
UTSW |
6 |
116,305,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Zfand4
|
UTSW |
6 |
116,291,700 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0446:Zfand4
|
UTSW |
6 |
116,265,015 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0508:Zfand4
|
UTSW |
6 |
116,262,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1577:Zfand4
|
UTSW |
6 |
116,306,373 (GRCm39) |
nonsense |
probably null |
|
|
R2179:Zfand4
|
UTSW |
6 |
116,291,742 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3862:Zfand4
|
UTSW |
6 |
116,270,776 (GRCm39) |
intron |
probably benign |
|
|
R4607:Zfand4
|
UTSW |
6 |
116,305,195 (GRCm39) |
nonsense |
probably null |
|
|
R4608:Zfand4
|
UTSW |
6 |
116,305,195 (GRCm39) |
nonsense |
probably null |
|
|
R4720:Zfand4
|
UTSW |
6 |
116,265,122 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4724:Zfand4
|
UTSW |
6 |
116,250,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Zfand4
|
UTSW |
6 |
116,291,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Zfand4
|
UTSW |
6 |
116,291,256 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5721:Zfand4
|
UTSW |
6 |
116,264,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5901:Zfand4
|
UTSW |
6 |
116,265,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6253:Zfand4
|
UTSW |
6 |
116,250,575 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6798:Zfand4
|
UTSW |
6 |
116,305,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7030:Zfand4
|
UTSW |
6 |
116,282,618 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7081:Zfand4
|
UTSW |
6 |
116,292,581 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7082:Zfand4
|
UTSW |
6 |
116,305,337 (GRCm39) |
splice site |
probably null |
|
|
R8147:Zfand4
|
UTSW |
6 |
116,291,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8703:Zfand4
|
UTSW |
6 |
116,250,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8973:Zfand4
|
UTSW |
6 |
116,291,041 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9659:Zfand4
|
UTSW |
6 |
116,282,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfand4
|
UTSW |
6 |
116,290,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Zfand4
|
UTSW |
6 |
116,290,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGGTTCAGTGTTAGGCACACTTTG -3'
(R):5'- CATGAGGCTGGAGATCTGAATTGAGAC -3'
Sequencing Primer
(F):5'- AATAGGTTCTTAGAGGATTTGGAAGG -3'
(R):5'- CAGCTTCAAAGGGTGAAACTCTTAG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation