Incidental Mutation 'R2048:Zfp541'
ID |
222226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp541
|
Ensembl Gene |
ENSMUSG00000078796 |
Gene Name |
zinc finger protein 541 |
Synonyms |
EG666528 |
MMRRC Submission |
040055-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.750)
|
Stock # |
R2048 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
15795739-15830259 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15812252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 302
(R302G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108509]
[ENSMUST00000209369]
[ENSMUST00000210805]
|
AlphaFold |
Q0GGX2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108509
AA Change: R302G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104149 Gene: ENSMUSG00000078796 AA Change: R302G
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 |
possibly damaging
Transcript: ENSMUST00000209369
AA Change: R302G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210805
AA Change: R302G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.1341 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
A |
G |
9: 70,647,357 (GRCm39) |
D19G |
possibly damaging |
Het |
Adhfe1 |
A |
G |
1: 9,633,778 (GRCm39) |
K342R |
probably benign |
Het |
Adk |
A |
G |
14: 21,368,244 (GRCm39) |
N223S |
probably damaging |
Het |
Aff4 |
A |
G |
11: 53,289,212 (GRCm39) |
S454G |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,984,420 (GRCm39) |
N1901K |
probably damaging |
Het |
Camsap1 |
T |
C |
2: 25,819,755 (GRCm39) |
T1578A |
probably benign |
Het |
Ccdc63 |
A |
C |
5: 122,268,350 (GRCm39) |
|
probably null |
Het |
Ceacam1 |
G |
T |
7: 25,176,113 (GRCm39) |
S27Y |
probably benign |
Het |
Cit |
T |
C |
5: 116,024,872 (GRCm39) |
|
probably null |
Het |
Cntn4 |
A |
G |
6: 106,414,825 (GRCm39) |
|
probably benign |
Het |
Cyp2d26 |
A |
G |
15: 82,676,928 (GRCm39) |
|
probably benign |
Het |
Cyp3a13 |
A |
T |
5: 137,908,237 (GRCm39) |
V204E |
probably damaging |
Het |
Cyp51 |
G |
A |
5: 4,136,636 (GRCm39) |
|
probably benign |
Het |
Dipk1a |
T |
C |
5: 108,057,886 (GRCm39) |
D179G |
probably damaging |
Het |
Epb41l4b |
T |
G |
4: 57,142,866 (GRCm39) |
E96D |
probably benign |
Het |
Epg5 |
A |
G |
18: 78,067,202 (GRCm39) |
E2221G |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,146,169 (GRCm39) |
N597K |
probably damaging |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Fsip1 |
C |
A |
2: 118,072,197 (GRCm39) |
E195D |
probably damaging |
Het |
Gm10152 |
T |
C |
7: 144,317,049 (GRCm39) |
F35L |
unknown |
Het |
Gtpbp6 |
A |
C |
5: 110,254,931 (GRCm39) |
V87G |
probably damaging |
Het |
Hal |
A |
G |
10: 93,327,002 (GRCm39) |
T176A |
probably damaging |
Het |
Il12rb2 |
G |
T |
6: 67,337,529 (GRCm39) |
N117K |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,072,680 (GRCm39) |
V734A |
probably benign |
Het |
Klf7 |
A |
G |
1: 64,117,913 (GRCm39) |
V228A |
possibly damaging |
Het |
Kng1 |
A |
G |
16: 22,877,354 (GRCm39) |
Y54C |
probably damaging |
Het |
Lpcat2 |
T |
G |
8: 93,596,471 (GRCm39) |
N169K |
possibly damaging |
Het |
Magohb |
A |
T |
6: 131,266,385 (GRCm39) |
S40R |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,633,363 (GRCm39) |
D186G |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,469,960 (GRCm39) |
|
probably null |
Het |
Myh15 |
A |
G |
16: 48,975,928 (GRCm39) |
D1332G |
probably damaging |
Het |
Myh9 |
G |
A |
15: 77,655,332 (GRCm39) |
T1208M |
possibly damaging |
Het |
Ncor2 |
C |
T |
5: 125,161,996 (GRCm39) |
R426H |
unknown |
Het |
Nradd |
T |
C |
9: 110,450,697 (GRCm39) |
E160G |
probably benign |
Het |
Or10u4 |
G |
A |
10: 129,801,861 (GRCm39) |
S230L |
probably damaging |
Het |
Or2a54 |
T |
A |
6: 43,093,312 (GRCm39) |
M212K |
probably benign |
Het |
Otog |
A |
T |
7: 45,937,063 (GRCm39) |
T1591S |
probably damaging |
Het |
Oxsr1 |
A |
G |
9: 119,076,140 (GRCm39) |
S389P |
probably benign |
Het |
Pde3a |
A |
G |
6: 141,434,732 (GRCm39) |
|
probably benign |
Het |
Pi4k2b |
A |
T |
5: 52,905,773 (GRCm39) |
I105L |
probably benign |
Het |
Pilrb1 |
T |
C |
5: 137,853,153 (GRCm39) |
R217G |
possibly damaging |
Het |
Poteg |
A |
T |
8: 27,946,774 (GRCm39) |
I159L |
probably benign |
Het |
Ppargc1a |
A |
G |
5: 51,705,858 (GRCm39) |
F75S |
probably damaging |
Het |
Ptk2b |
T |
G |
14: 66,409,954 (GRCm39) |
D466A |
probably benign |
Het |
Ptpn21 |
A |
G |
12: 98,655,785 (GRCm39) |
V394A |
possibly damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Shisa3 |
G |
A |
5: 67,768,651 (GRCm39) |
E184K |
possibly damaging |
Het |
Slc4a2 |
A |
G |
5: 24,636,557 (GRCm39) |
H283R |
probably damaging |
Het |
Slc9a3 |
A |
G |
13: 74,311,860 (GRCm39) |
S603G |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
Tbcd |
G |
T |
11: 121,431,762 (GRCm39) |
C470F |
probably damaging |
Het |
Thsd1 |
A |
G |
8: 22,749,333 (GRCm39) |
R674G |
probably benign |
Het |
Zbtb11 |
T |
A |
16: 55,818,372 (GRCm39) |
C599S |
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 |
|
R1083:Zfp541
|
UTSW |
7 |
15,812,637 (GRCm39) |
missense |
probably benign |
0.16 |
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 |
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'- CTGAAGGAGACTCCACCAGAAG -3'
(R):5'- CAACTCTGACTCTGGTGGATCG -3'
Sequencing Primer
(F):5'- TCCACCAGAAGAGGAGGCC -3'
(R):5'- ATCGGGGACACCATTCTCAG -3'
|
Posted On |
2014-08-25 |