Incidental Mutation 'R5721:Zfand4'
| ID |
451438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfand4
|
| Ensembl Gene |
ENSMUSG00000042213 |
| Gene Name |
zinc finger, AN1-type domain 4 |
| Synonyms |
Anubl1, 2810002D23Rik |
| MMRRC Submission |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
116241183-116307263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 116264956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 140
(D140E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036503]
[ENSMUST00000112900]
[ENSMUST00000220845]
[ENSMUST00000221069]
[ENSMUST00000223495]
[ENSMUST00000222819]
[ENSMUST00000222494]
|
| AlphaFold |
D3Z3C6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036503
AA Change: D140E
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213
AA Change: D140E
| 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: D140E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213
AA Change: D140E
| 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: ENSMUST00000153244
AA Change: P246A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222144
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223495
AA Change: D140E
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222494
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
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 |
|
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 |
|
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'- GCAAGCCATGAATTTGAGCAG -3'
(R):5'- ACCTTAAAGACTCAGACAGTGGG -3'
Sequencing Primer
(F):5'- GCCATGAATTTGAGCAGATTTAGG -3'
(R):5'- CAGTGGGGTTAAAGTGCCATCC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation