Incidental Mutation 'R8703:Zfand4'
| ID |
669146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfand4
|
| Ensembl Gene |
ENSMUSG00000042213 |
| Gene Name |
zinc finger, AN1-type domain 4 |
| Synonyms |
Anubl1, 2810002D23Rik |
| MMRRC Submission |
068557-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R8703 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116241183-116307263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116250604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 11
(I11M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036503]
[ENSMUST00000112900]
[ENSMUST00000220845]
[ENSMUST00000222494]
[ENSMUST00000222819]
[ENSMUST00000223495]
|
| AlphaFold |
D3Z3C6 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213
AA Change: I11M
| 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: I11M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213
AA Change: I11M
| 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: I11M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222494
AA Change: I11M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222819
AA Change: I11M
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223495
AA Change: I11M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,676,792 (GRCm39) |
T2013I |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,201,120 (GRCm39) |
N137Y |
|
Het |
| Apol10b |
T |
A |
15: 77,472,897 (GRCm39) |
E52D |
probably damaging |
Het |
| Calr3 |
A |
T |
8: 73,192,291 (GRCm39) |
Y128N |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,493,576 (GRCm39) |
L1669* |
probably null |
Het |
| Dppa3 |
A |
T |
6: 122,605,737 (GRCm39) |
D97V |
probably damaging |
Het |
| Dync1li1 |
C |
A |
9: 114,552,329 (GRCm39) |
P490T |
probably damaging |
Het |
| Eya4 |
A |
G |
10: 23,039,340 (GRCm39) |
S85P |
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,332 (GRCm39) |
I113N |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,247,997 (GRCm39) |
D1040G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,821,871 (GRCm39) |
D5868V |
probably damaging |
Het |
| Gpr75 |
A |
C |
11: 30,841,890 (GRCm39) |
Q265P |
probably damaging |
Het |
| Iqcm |
G |
T |
8: 76,615,271 (GRCm39) |
G451C |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Mcm9 |
G |
A |
10: 53,506,073 (GRCm39) |
P67L |
probably damaging |
Het |
| Naalad2 |
A |
C |
9: 18,290,008 (GRCm39) |
Y207D |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,323,703 (GRCm39) |
D1325N |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,643,021 (GRCm39) |
|
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or4b1b |
T |
A |
2: 90,126,837 (GRCm39) |
I123F |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,244 (GRCm39) |
V124L |
possibly damaging |
Het |
| Or9i14 |
G |
T |
19: 13,792,105 (GRCm39) |
P283H |
probably damaging |
Het |
| Per2 |
T |
A |
1: 91,351,767 (GRCm39) |
N913I |
possibly damaging |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Reps1 |
C |
T |
10: 17,968,990 (GRCm39) |
R183C |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,496,137 (GRCm39) |
C134S |
|
Het |
| Rpl10-ps3 |
A |
G |
9: 50,256,184 (GRCm39) |
S20P |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,605,595 (GRCm39) |
G932C |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,854,959 (GRCm39) |
Q46R |
|
Het |
| Sh3d19 |
A |
G |
3: 86,014,568 (GRCm39) |
E453G |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,461,548 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
T |
3: 72,867,657 (GRCm39) |
F129L |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,733,207 (GRCm39) |
I399F |
unknown |
Het |
| Slc22a7 |
T |
C |
17: 46,744,951 (GRCm39) |
D365G |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,324,447 (GRCm39) |
M38V |
probably benign |
Het |
| Slc9b2 |
C |
A |
3: 135,031,924 (GRCm39) |
Y261* |
probably null |
Het |
| Spata21 |
A |
G |
4: 140,832,218 (GRCm39) |
I460V |
probably benign |
Het |
| Tes |
C |
G |
6: 17,099,788 (GRCm39) |
P261R |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,062,724 (GRCm39) |
L718P |
probably benign |
Het |
| Tmem135 |
G |
A |
7: 88,808,170 (GRCm39) |
A202V |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,964,321 (GRCm39) |
F55L |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,356,317 (GRCm39) |
L1128P |
probably damaging |
Het |
| Zdhhc5 |
T |
C |
2: 84,520,596 (GRCm39) |
E527G |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,582,888 (GRCm39) |
I512K |
probably benign |
Het |
| Zfp638 |
T |
A |
6: 83,954,143 (GRCm39) |
F1416Y |
probably damaging |
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 |
|
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 |
|
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'- TGTTAGGCACACTTTGTAAAGGC -3'
(R):5'- AGCTTCAAAGGGTGAAACTCTTAG -3'
Sequencing Primer
(F):5'- AATAGGTTCTTAGAGGATTTGGAAGG -3'
(R):5'- GTTCAAAACATGTTCCAGTCAACG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation