Incidental Mutation 'R1083:Zfp541'
ID |
84921 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp541
|
Ensembl Gene |
ENSMUSG00000078796 |
Gene Name |
zinc finger protein 541 |
Synonyms |
EG666528 |
MMRRC Submission |
039169-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.765)
|
Stock # |
R1083 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
15795739-15830259 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15812637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 430
(N430S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108509]
[ENSMUST00000209369]
[ENSMUST00000210805]
|
AlphaFold |
Q0GGX2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108509
AA Change: N430S
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000104149 Gene: ENSMUSG00000078796 AA Change: N430S
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
ZnF_C2H2
|
140 |
162 |
2.24e-3 |
SMART |
ZnF_C2H2
|
168 |
190 |
4.47e-3 |
SMART |
ZnF_C2H2
|
196 |
221 |
2.36e-2 |
SMART |
low complexity region
|
249 |
260 |
N/A |
INTRINSIC |
low complexity region
|
362 |
374 |
N/A |
INTRINSIC |
low complexity region
|
444 |
465 |
N/A |
INTRINSIC |
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
low complexity region
|
594 |
609 |
N/A |
INTRINSIC |
low complexity region
|
659 |
670 |
N/A |
INTRINSIC |
ZnF_C2H2
|
838 |
860 |
3.72e0 |
SMART |
low complexity region
|
953 |
958 |
N/A |
INTRINSIC |
ELM2
|
1065 |
1122 |
4.46e-14 |
SMART |
SANT
|
1171 |
1219 |
8.38e-7 |
SMART |
low complexity region
|
1252 |
1263 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1301 |
1323 |
1.01e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209369
AA Change: N430S
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210805
AA Change: N430S
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730049H05Rik |
T |
C |
6: 92,805,046 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
G |
A |
7: 66,797,322 (GRCm39) |
C986Y |
probably damaging |
Het |
AI987944 |
A |
G |
7: 41,024,763 (GRCm39) |
V75A |
probably benign |
Het |
Arhgap10 |
T |
C |
8: 78,244,378 (GRCm39) |
Y12C |
probably damaging |
Het |
Atp11b |
G |
A |
3: 35,832,162 (GRCm39) |
|
probably benign |
Het |
Ccer1 |
T |
A |
10: 97,530,520 (GRCm39) |
D394E |
possibly damaging |
Het |
Cdh2 |
T |
C |
18: 16,777,016 (GRCm39) |
N273S |
possibly damaging |
Het |
Cfap65 |
G |
T |
1: 74,957,663 (GRCm39) |
|
probably benign |
Het |
Crybb3 |
A |
T |
5: 113,228,444 (GRCm39) |
|
probably benign |
Het |
D7Ertd443e |
G |
A |
7: 133,950,663 (GRCm39) |
Q337* |
probably null |
Het |
Dixdc1 |
C |
T |
9: 50,588,293 (GRCm39) |
|
probably benign |
Het |
Dut |
GCGGC |
GCGGCCGGC |
2: 125,089,748 (GRCm39) |
|
probably null |
Het |
Fbxo2 |
A |
G |
4: 148,250,234 (GRCm39) |
|
probably null |
Het |
Gm5174 |
T |
C |
10: 86,491,972 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
A |
G |
19: 55,076,643 (GRCm39) |
|
probably benign |
Het |
Il12a |
C |
T |
3: 68,602,666 (GRCm39) |
T112M |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,487,657 (GRCm39) |
V2361D |
possibly damaging |
Het |
Jag1 |
G |
A |
2: 136,938,152 (GRCm39) |
L283F |
probably damaging |
Het |
Lamb2 |
A |
C |
9: 108,360,892 (GRCm39) |
D538A |
probably benign |
Het |
Map10 |
T |
A |
8: 126,397,178 (GRCm39) |
C190* |
probably null |
Het |
Pcnx2 |
C |
T |
8: 126,498,843 (GRCm39) |
R1552H |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,156,244 (GRCm39) |
|
probably benign |
Het |
Pitx2 |
A |
G |
3: 129,012,418 (GRCm39) |
T276A |
probably damaging |
Het |
Pparg |
A |
G |
6: 115,467,107 (GRCm39) |
D490G |
probably damaging |
Het |
Rnf10 |
A |
T |
5: 115,398,163 (GRCm39) |
|
probably benign |
Het |
Sbp |
T |
C |
17: 24,161,704 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,900,841 (GRCm39) |
L942H |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Sfmbt1 |
A |
T |
14: 30,509,498 (GRCm39) |
N326Y |
possibly damaging |
Het |
Slx4 |
G |
A |
16: 3,808,774 (GRCm39) |
Q389* |
probably null |
Het |
Srrm3 |
T |
A |
5: 135,883,263 (GRCm39) |
V206E |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,447,933 (GRCm39) |
D2270E |
possibly damaging |
Het |
Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
Vmn1r14 |
T |
A |
6: 57,211,184 (GRCm39) |
I210N |
probably damaging |
Het |
Wasf3 |
T |
G |
5: 146,372,182 (GRCm39) |
L13R |
probably damaging |
Het |
Yes1 |
T |
C |
5: 32,809,101 (GRCm39) |
|
probably null |
Het |
Zfp292 |
T |
C |
4: 34,807,569 (GRCm39) |
D1830G |
probably damaging |
Het |
|
Other mutations in Zfp541 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02162:Zfp541
|
APN |
7 |
15,813,393 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02262:Zfp541
|
APN |
7 |
15,813,620 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02347:Zfp541
|
APN |
7 |
15,817,390 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02516:Zfp541
|
APN |
7 |
15,816,918 (GRCm39) |
splice site |
probably null |
|
R0101:Zfp541
|
UTSW |
7 |
15,811,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R0412:Zfp541
|
UTSW |
7 |
15,816,099 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0627:Zfp541
|
UTSW |
7 |
15,829,607 (GRCm39) |
splice site |
probably benign |
|
R0784:Zfp541
|
UTSW |
7 |
15,816,917 (GRCm39) |
intron |
probably benign |
|
R1541:Zfp541
|
UTSW |
7 |
15,812,437 (GRCm39) |
missense |
probably benign |
0.04 |
R1575:Zfp541
|
UTSW |
7 |
15,812,640 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1730:Zfp541
|
UTSW |
7 |
15,811,898 (GRCm39) |
missense |
probably damaging |
0.99 |
R1783:Zfp541
|
UTSW |
7 |
15,811,898 (GRCm39) |
missense |
probably damaging |
0.99 |
R1966:Zfp541
|
UTSW |
7 |
15,812,996 (GRCm39) |
missense |
probably benign |
0.02 |
R2022:Zfp541
|
UTSW |
7 |
15,816,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R2048:Zfp541
|
UTSW |
7 |
15,812,252 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2436:Zfp541
|
UTSW |
7 |
15,810,373 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3973:Zfp541
|
UTSW |
7 |
15,806,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R4081:Zfp541
|
UTSW |
7 |
15,806,060 (GRCm39) |
missense |
probably benign |
0.16 |
R4589:Zfp541
|
UTSW |
7 |
15,817,261 (GRCm39) |
missense |
probably benign |
0.35 |
R4724:Zfp541
|
UTSW |
7 |
15,815,612 (GRCm39) |
missense |
probably damaging |
0.99 |
R4812:Zfp541
|
UTSW |
7 |
15,813,035 (GRCm39) |
missense |
probably benign |
0.01 |
R4817:Zfp541
|
UTSW |
7 |
15,824,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R5232:Zfp541
|
UTSW |
7 |
15,829,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R5331:Zfp541
|
UTSW |
7 |
15,829,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R5551:Zfp541
|
UTSW |
7 |
15,824,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R5976:Zfp541
|
UTSW |
7 |
15,810,344 (GRCm39) |
missense |
probably benign |
0.34 |
R6259:Zfp541
|
UTSW |
7 |
15,829,451 (GRCm39) |
missense |
probably benign |
0.02 |
R6523:Zfp541
|
UTSW |
7 |
15,829,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R6826:Zfp541
|
UTSW |
7 |
15,812,907 (GRCm39) |
missense |
probably damaging |
0.96 |
R7319:Zfp541
|
UTSW |
7 |
15,813,294 (GRCm39) |
missense |
probably benign |
0.21 |
R7428:Zfp541
|
UTSW |
7 |
15,826,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R7594:Zfp541
|
UTSW |
7 |
15,810,311 (GRCm39) |
missense |
probably damaging |
0.96 |
R7724:Zfp541
|
UTSW |
7 |
15,805,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R8276:Zfp541
|
UTSW |
7 |
15,813,009 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8433:Zfp541
|
UTSW |
7 |
15,805,999 (GRCm39) |
missense |
probably benign |
0.16 |
R9068:Zfp541
|
UTSW |
7 |
15,812,376 (GRCm39) |
missense |
probably damaging |
0.96 |
R9086:Zfp541
|
UTSW |
7 |
15,824,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R9132:Zfp541
|
UTSW |
7 |
15,816,966 (GRCm39) |
missense |
probably benign |
0.45 |
R9261:Zfp541
|
UTSW |
7 |
15,816,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9408:Zfp541
|
UTSW |
7 |
15,806,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R9518:Zfp541
|
UTSW |
7 |
15,813,036 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9621:Zfp541
|
UTSW |
7 |
15,805,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1088:Zfp541
|
UTSW |
7 |
15,813,720 (GRCm39) |
missense |
probably benign |
0.16 |
Z1176:Zfp541
|
UTSW |
7 |
15,812,191 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zfp541
|
UTSW |
7 |
15,816,092 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Zfp541
|
UTSW |
7 |
15,812,954 (GRCm39) |
missense |
probably benign |
0.26 |
Z1177:Zfp541
|
UTSW |
7 |
15,812,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCAGAGTCTCCACGGCTTCAAC -3'
(R):5'- GGACTTGGCAATCATCTGGAGCAC -3'
Sequencing Primer
(F):5'- CGGCTTCAACGGCCATC -3'
(R):5'- GGCTTACTAGAGACTCCTGTGAC -3'
|
Posted On |
2013-11-18 |