Incidental Mutation 'R0015:Zfand4'
ID |
8304 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfand4
|
Ensembl Gene |
ENSMUSG00000042213 |
Gene Name |
zinc finger, AN1-type domain 4 |
Synonyms |
Anubl1, 2810002D23Rik |
MMRRC Submission |
038310-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R0015 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
116241183-116307263 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 116305258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 705
(T705K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036503]
[ENSMUST00000112900]
[ENSMUST00000222494]
[ENSMUST00000222819]
[ENSMUST00000223495]
|
AlphaFold |
D3Z3C6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036503
AA Change: T686K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000040057 Gene: ENSMUSG00000042213 AA Change: T686K
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: T705K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108521 Gene: ENSMUSG00000042213 AA Change: T705K
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 |
noncoding transcript
Transcript: ENSMUST00000221824
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222494
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222819
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223495
AA Change: N228K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Meta Mutation Damage Score |
0.6836 |
Coding Region Coverage |
- 1x: 80.5%
- 3x: 72.2%
- 10x: 49.0%
- 20x: 28.4%
|
Validation Efficiency |
90% (88/98) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130050O07Rik |
A |
G |
1: 137,856,394 (GRCm39) |
Y23C |
unknown |
Het |
Aadat |
C |
T |
8: 60,987,605 (GRCm39) |
|
probably benign |
Het |
Adcy3 |
G |
A |
12: 4,245,260 (GRCm39) |
|
probably null |
Het |
Armc3 |
A |
G |
2: 19,301,132 (GRCm39) |
|
probably null |
Het |
Astn2 |
T |
G |
4: 66,184,619 (GRCm39) |
|
probably null |
Het |
Borcs8 |
T |
C |
8: 70,593,017 (GRCm39) |
|
probably benign |
Het |
Cacna1d |
G |
A |
14: 29,836,928 (GRCm39) |
T804I |
probably benign |
Het |
Card19 |
A |
G |
13: 49,361,532 (GRCm39) |
L33P |
probably benign |
Het |
Ccny |
A |
C |
18: 9,316,682 (GRCm39) |
|
probably benign |
Het |
Cdh5 |
C |
T |
8: 104,867,559 (GRCm39) |
T612I |
probably benign |
Het |
Cfap58 |
A |
G |
19: 48,017,539 (GRCm39) |
M800V |
probably benign |
Het |
Clrn1 |
A |
T |
3: 58,753,848 (GRCm39) |
I171K |
probably damaging |
Het |
Cnp |
T |
A |
11: 100,469,734 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
C |
9: 79,558,667 (GRCm39) |
T1933A |
probably damaging |
Het |
Cplane1 |
G |
A |
15: 8,215,668 (GRCm39) |
R408H |
probably damaging |
Het |
Cwf19l2 |
A |
G |
9: 3,454,666 (GRCm39) |
S660G |
probably benign |
Het |
Dync1i2 |
C |
A |
2: 71,044,828 (GRCm39) |
R13S |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,036,652 (GRCm39) |
S3435T |
probably damaging |
Het |
Fchsd1 |
A |
G |
18: 38,096,012 (GRCm39) |
C533R |
probably benign |
Het |
Fstl5 |
G |
A |
3: 76,229,498 (GRCm39) |
V100M |
probably damaging |
Het |
Gria2 |
C |
T |
3: 80,615,074 (GRCm39) |
G469S |
probably damaging |
Het |
Hsf5 |
C |
A |
11: 87,548,161 (GRCm39) |
H615N |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,140,113 (GRCm39) |
T240A |
probably damaging |
Het |
Kcnn3 |
A |
C |
3: 89,570,080 (GRCm39) |
D631A |
probably damaging |
Het |
Lama4 |
C |
T |
10: 38,951,432 (GRCm39) |
T1059M |
possibly damaging |
Het |
Lgals8 |
A |
G |
13: 12,462,179 (GRCm39) |
L226P |
probably damaging |
Het |
Lonp1 |
T |
A |
17: 56,925,406 (GRCm39) |
Q462L |
probably benign |
Het |
Mark2 |
A |
T |
19: 7,263,142 (GRCm39) |
Y231* |
probably null |
Het |
Mdh1b |
T |
C |
1: 63,760,959 (GRCm39) |
|
probably benign |
Het |
Myh7b |
C |
T |
2: 155,464,206 (GRCm39) |
P569L |
probably damaging |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Ncapd3 |
C |
A |
9: 26,963,105 (GRCm39) |
A470E |
probably damaging |
Het |
Ndrg2 |
A |
G |
14: 52,147,902 (GRCm39) |
|
probably benign |
Het |
Nprl2 |
A |
T |
9: 107,421,618 (GRCm39) |
I209F |
probably damaging |
Het |
Pcf11 |
T |
A |
7: 92,307,525 (GRCm39) |
H881L |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,196,029 (GRCm39) |
D640G |
probably damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,705,547 (GRCm39) |
|
probably benign |
Het |
Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
Pter |
G |
A |
2: 13,005,811 (GRCm39) |
G328D |
probably damaging |
Het |
Rad51 |
T |
A |
2: 118,946,808 (GRCm39) |
M5K |
probably benign |
Het |
Rbm43 |
T |
A |
2: 51,815,679 (GRCm39) |
I181F |
probably benign |
Het |
Rgs12 |
T |
C |
5: 35,180,120 (GRCm39) |
|
probably benign |
Het |
Slc20a2 |
C |
A |
8: 23,025,361 (GRCm39) |
A21E |
probably damaging |
Het |
Sybu |
T |
C |
15: 44,536,896 (GRCm39) |
R349G |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,533 (GRCm39) |
|
probably null |
Het |
Xirp2 |
C |
A |
2: 67,341,243 (GRCm39) |
Y1161* |
probably null |
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 |
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 |
R1385:Zfand4
|
UTSW |
6 |
116,250,599 (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 |
|
Posted On |
2012-11-21 |