Incidental Mutation 'R5529:Zbtb40'
ID |
433566 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb40
|
Ensembl Gene |
ENSMUSG00000060862 |
Gene Name |
zinc finger and BTB domain containing 40 |
Synonyms |
|
MMRRC Submission |
043087-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R5529 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
136707043-136776112 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136710474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1222
(F1222L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049583]
|
AlphaFold |
Q6PCS8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049583
AA Change: F1222L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000061899 Gene: ENSMUSG00000060862 AA Change: F1222L
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
14 |
N/A |
INTRINSIC |
BTB
|
24 |
117 |
3.39e-18 |
SMART |
low complexity region
|
150 |
170 |
N/A |
INTRINSIC |
low complexity region
|
525 |
533 |
N/A |
INTRINSIC |
low complexity region
|
725 |
741 |
N/A |
INTRINSIC |
ZnF_C2H2
|
754 |
774 |
4.86e1 |
SMART |
low complexity region
|
786 |
801 |
N/A |
INTRINSIC |
ZnF_C2H2
|
825 |
848 |
1.16e-1 |
SMART |
ZnF_C2H2
|
854 |
876 |
1.1e-2 |
SMART |
ZnF_C2H2
|
882 |
905 |
1.16e-1 |
SMART |
ZnF_C2H2
|
911 |
933 |
1.2e-3 |
SMART |
ZnF_C2H2
|
939 |
962 |
8.81e-2 |
SMART |
ZnF_C2H2
|
969 |
992 |
7.05e-1 |
SMART |
ZnF_C2H2
|
997 |
1019 |
1.47e-3 |
SMART |
ZnF_C2H2
|
1025 |
1047 |
2.86e-1 |
SMART |
ZnF_C2H2
|
1065 |
1088 |
6.67e-2 |
SMART |
ZnF_C2H2
|
1094 |
1117 |
6.23e-2 |
SMART |
ZnF_C2H2
|
1123 |
1146 |
1.53e-1 |
SMART |
ZnF_C2H2
|
1154 |
1177 |
1.56e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218160
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,304,040 (GRCm39) |
Y2079C |
probably damaging |
Het |
Alg2 |
T |
C |
4: 47,472,101 (GRCm39) |
R236G |
probably damaging |
Het |
Alpl |
T |
A |
4: 137,473,733 (GRCm39) |
N323I |
probably damaging |
Het |
Anxa3 |
A |
G |
5: 96,976,238 (GRCm39) |
E172G |
probably benign |
Het |
Atp8a2 |
A |
G |
14: 60,031,314 (GRCm39) |
|
probably null |
Het |
Cadps |
T |
C |
14: 12,454,285 (GRCm38) |
K1078E |
probably damaging |
Het |
Ccn5 |
T |
C |
2: 163,667,279 (GRCm39) |
|
probably null |
Het |
Ces2e |
G |
T |
8: 105,656,543 (GRCm39) |
V258L |
probably benign |
Het |
Daam2 |
A |
G |
17: 49,766,085 (GRCm39) |
F1041S |
probably benign |
Het |
Dcstamp |
A |
G |
15: 39,617,932 (GRCm39) |
I114V |
probably benign |
Het |
Ddhd2 |
C |
T |
8: 26,229,587 (GRCm39) |
R496Q |
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,714,126 (GRCm39) |
R1335S |
probably benign |
Het |
F12 |
T |
C |
13: 55,569,872 (GRCm39) |
N102S |
probably benign |
Het |
Fbn1 |
G |
A |
2: 125,215,870 (GRCm39) |
L712F |
probably benign |
Het |
Fgf1 |
G |
T |
18: 38,991,657 (GRCm39) |
F37L |
probably damaging |
Het |
Fgf14 |
T |
A |
14: 124,217,867 (GRCm39) |
H212L |
probably damaging |
Het |
Gm10036 |
A |
T |
18: 15,965,858 (GRCm39) |
Q3L |
probably benign |
Het |
Hivep1 |
T |
C |
13: 42,310,126 (GRCm39) |
F789L |
possibly damaging |
Het |
Hspg2 |
C |
A |
4: 137,279,139 (GRCm39) |
T3074N |
probably damaging |
Het |
Katnb1 |
C |
T |
8: 95,824,300 (GRCm39) |
R495C |
probably damaging |
Het |
Kdm5b |
C |
T |
1: 134,515,741 (GRCm39) |
H122Y |
probably damaging |
Het |
Ky |
C |
T |
9: 102,419,274 (GRCm39) |
S427L |
probably benign |
Het |
Med9 |
T |
G |
11: 59,851,486 (GRCm39) |
V105G |
probably benign |
Het |
Ndufa11 |
T |
A |
17: 57,028,059 (GRCm39) |
V43D |
probably damaging |
Het |
Nlrp4b |
T |
A |
7: 10,448,873 (GRCm39) |
C359S |
possibly damaging |
Het |
Or12k8 |
T |
A |
2: 36,974,921 (GRCm39) |
I280F |
possibly damaging |
Het |
Or51e1 |
A |
T |
7: 102,358,900 (GRCm39) |
K145* |
probably null |
Het |
Paxbp1 |
T |
A |
16: 90,827,401 (GRCm39) |
Y478F |
possibly damaging |
Het |
Pole |
G |
A |
5: 110,480,332 (GRCm39) |
E92K |
probably benign |
Het |
Prom1 |
G |
T |
5: 44,184,110 (GRCm39) |
L449M |
probably damaging |
Het |
Psg28 |
G |
A |
7: 18,164,373 (GRCm39) |
T113I |
probably benign |
Het |
Reln |
A |
C |
5: 22,137,713 (GRCm39) |
V2493G |
possibly damaging |
Het |
Rp1 |
C |
T |
1: 4,416,055 (GRCm39) |
V1686I |
probably benign |
Het |
Setbp1 |
T |
C |
18: 79,129,867 (GRCm39) |
I122V |
probably damaging |
Het |
Setd5 |
T |
C |
6: 113,098,529 (GRCm39) |
Y721H |
probably damaging |
Het |
Shroom1 |
T |
C |
11: 53,354,749 (GRCm39) |
F223S |
probably damaging |
Het |
Son |
T |
A |
16: 91,452,354 (GRCm39) |
L367Q |
probably damaging |
Het |
Spred2 |
G |
T |
11: 19,971,301 (GRCm39) |
D363Y |
probably damaging |
Het |
Tbc1d8 |
T |
G |
1: 39,411,836 (GRCm39) |
Y1000S |
probably benign |
Het |
Tdp2 |
A |
T |
13: 25,022,219 (GRCm39) |
K213* |
probably null |
Het |
Tmem89 |
T |
C |
9: 108,744,545 (GRCm39) |
I146T |
probably damaging |
Het |
Vhl |
T |
C |
6: 113,606,424 (GRCm39) |
V147A |
probably benign |
Het |
Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
Vrk2 |
T |
C |
11: 26,449,036 (GRCm39) |
D186G |
probably damaging |
Het |
Zfp266 |
A |
G |
9: 20,418,030 (GRCm39) |
S7P |
probably damaging |
Het |
Zfp472 |
T |
A |
17: 33,197,407 (GRCm39) |
I494K |
possibly damaging |
Het |
Zfp655 |
A |
G |
5: 145,181,546 (GRCm39) |
E468G |
probably damaging |
Het |
|
Other mutations in Zbtb40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00473:Zbtb40
|
APN |
4 |
136,714,651 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00573:Zbtb40
|
APN |
4 |
136,745,389 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00774:Zbtb40
|
APN |
4 |
136,721,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R0046:Zbtb40
|
UTSW |
4 |
136,714,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R0046:Zbtb40
|
UTSW |
4 |
136,714,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R0334:Zbtb40
|
UTSW |
4 |
136,713,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R0393:Zbtb40
|
UTSW |
4 |
136,745,842 (GRCm39) |
missense |
probably benign |
0.09 |
R0482:Zbtb40
|
UTSW |
4 |
136,710,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R1457:Zbtb40
|
UTSW |
4 |
136,712,148 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1846:Zbtb40
|
UTSW |
4 |
136,735,150 (GRCm39) |
missense |
probably benign |
0.00 |
R2153:Zbtb40
|
UTSW |
4 |
136,718,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R2206:Zbtb40
|
UTSW |
4 |
136,744,596 (GRCm39) |
nonsense |
probably null |
|
R2291:Zbtb40
|
UTSW |
4 |
136,712,328 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2406:Zbtb40
|
UTSW |
4 |
136,725,879 (GRCm39) |
missense |
probably benign |
0.34 |
R3707:Zbtb40
|
UTSW |
4 |
136,726,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R4131:Zbtb40
|
UTSW |
4 |
136,722,707 (GRCm39) |
missense |
probably benign |
0.00 |
R4243:Zbtb40
|
UTSW |
4 |
136,745,860 (GRCm39) |
missense |
probably benign |
0.00 |
R4424:Zbtb40
|
UTSW |
4 |
136,726,005 (GRCm39) |
missense |
probably damaging |
0.96 |
R4725:Zbtb40
|
UTSW |
4 |
136,746,072 (GRCm39) |
utr 5 prime |
probably benign |
|
R4784:Zbtb40
|
UTSW |
4 |
136,734,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Zbtb40
|
UTSW |
4 |
136,725,953 (GRCm39) |
missense |
probably benign |
0.00 |
R4796:Zbtb40
|
UTSW |
4 |
136,725,953 (GRCm39) |
missense |
probably benign |
0.00 |
R4838:Zbtb40
|
UTSW |
4 |
136,728,527 (GRCm39) |
missense |
probably benign |
0.15 |
R4859:Zbtb40
|
UTSW |
4 |
136,716,070 (GRCm39) |
missense |
probably damaging |
0.98 |
R4883:Zbtb40
|
UTSW |
4 |
136,728,241 (GRCm39) |
missense |
probably benign |
0.09 |
R5001:Zbtb40
|
UTSW |
4 |
136,723,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R5030:Zbtb40
|
UTSW |
4 |
136,725,263 (GRCm39) |
missense |
probably benign |
0.00 |
R5060:Zbtb40
|
UTSW |
4 |
136,728,604 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5536:Zbtb40
|
UTSW |
4 |
136,714,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R5589:Zbtb40
|
UTSW |
4 |
136,722,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R6114:Zbtb40
|
UTSW |
4 |
136,716,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R6393:Zbtb40
|
UTSW |
4 |
136,712,177 (GRCm39) |
missense |
probably null |
|
R7208:Zbtb40
|
UTSW |
4 |
136,726,937 (GRCm39) |
splice site |
probably null |
|
R7406:Zbtb40
|
UTSW |
4 |
136,728,205 (GRCm39) |
missense |
probably benign |
0.29 |
R7722:Zbtb40
|
UTSW |
4 |
136,718,829 (GRCm39) |
missense |
probably damaging |
0.98 |
R7803:Zbtb40
|
UTSW |
4 |
136,744,638 (GRCm39) |
missense |
probably benign |
|
R8292:Zbtb40
|
UTSW |
4 |
136,726,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R8735:Zbtb40
|
UTSW |
4 |
136,725,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R8890:Zbtb40
|
UTSW |
4 |
136,725,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R9003:Zbtb40
|
UTSW |
4 |
136,745,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R9290:Zbtb40
|
UTSW |
4 |
136,745,529 (GRCm39) |
missense |
probably benign |
0.00 |
R9328:Zbtb40
|
UTSW |
4 |
136,745,620 (GRCm39) |
missense |
probably benign |
0.00 |
RF014:Zbtb40
|
UTSW |
4 |
136,744,617 (GRCm39) |
missense |
probably benign |
0.20 |
Z1176:Zbtb40
|
UTSW |
4 |
136,722,774 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zbtb40
|
UTSW |
4 |
136,745,335 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTCAAGTGAGAGCACCAGGG -3'
(R):5'- AGTAATTGCTCTCCTCGGGTG -3'
Sequencing Primer
(F):5'- TCAGCCGAGCAGCTAGAG -3'
(R):5'- GTAATTGCTCTCCTCGGGTGAAAAC -3'
|
Posted On |
2016-10-06 |