Incidental Mutation 'R6826:Zfp541'
ID |
534163 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp541
|
Ensembl Gene |
ENSMUSG00000078796 |
Gene Name |
zinc finger protein 541 |
Synonyms |
EG666528 |
MMRRC Submission |
045019-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.765)
|
Stock # |
R6826 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
15795739-15830259 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15812907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 520
(E520G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147475
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108509]
[ENSMUST00000209369]
[ENSMUST00000210805]
|
AlphaFold |
Q0GGX2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108509
AA Change: E520G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104149 Gene: ENSMUSG00000078796 AA Change: E520G
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 damaging
Transcript: ENSMUST00000209369
AA Change: E520G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210805
AA Change: E520G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,107,431 (GRCm39) |
N728S |
probably benign |
Het |
Acaca |
T |
C |
11: 84,086,362 (GRCm39) |
S63P |
probably damaging |
Het |
Akr1c12 |
A |
G |
13: 4,325,733 (GRCm39) |
V120A |
probably benign |
Het |
Ap4b1 |
G |
A |
3: 103,720,224 (GRCm39) |
|
probably null |
Het |
Apol7e |
T |
A |
15: 77,602,491 (GRCm39) |
V363D |
probably damaging |
Het |
Bmpr1b |
A |
T |
3: 141,563,167 (GRCm39) |
L259Q |
probably damaging |
Het |
Cdhr17 |
A |
G |
5: 17,013,292 (GRCm39) |
I219V |
unknown |
Het |
Clca3a2 |
T |
C |
3: 144,523,815 (GRCm39) |
T57A |
possibly damaging |
Het |
Copb1 |
T |
C |
7: 113,825,954 (GRCm39) |
T677A |
probably benign |
Het |
Crhr2 |
T |
C |
6: 55,094,725 (GRCm39) |
|
probably benign |
Het |
Cyp11a1 |
A |
G |
9: 57,932,370 (GRCm39) |
T228A |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,008,247 (GRCm39) |
I2084V |
probably benign |
Het |
Dnajc17 |
T |
C |
2: 119,011,408 (GRCm39) |
K174R |
probably damaging |
Het |
Dnm2 |
T |
A |
9: 21,415,767 (GRCm39) |
Y646* |
probably null |
Het |
Dock9 |
G |
A |
14: 121,860,330 (GRCm39) |
P866L |
probably damaging |
Het |
Elmo3 |
A |
T |
8: 106,033,378 (GRCm39) |
I115F |
probably damaging |
Het |
Elmod1 |
T |
C |
9: 53,826,883 (GRCm39) |
T268A |
probably benign |
Het |
F10 |
T |
C |
8: 13,096,165 (GRCm39) |
|
probably null |
Het |
Fmo4 |
C |
T |
1: 162,631,338 (GRCm39) |
V210M |
probably damaging |
Het |
Foxred2 |
G |
T |
15: 77,831,285 (GRCm39) |
H509Q |
probably benign |
Het |
Hyal6 |
A |
G |
6: 24,734,371 (GRCm39) |
I101M |
probably damaging |
Het |
Igkv5-48 |
T |
C |
6: 69,703,584 (GRCm39) |
Y107C |
probably damaging |
Het |
Jag1 |
A |
G |
2: 136,958,095 (GRCm39) |
|
probably null |
Het |
Leng8 |
T |
A |
7: 4,148,319 (GRCm39) |
V697E |
probably damaging |
Het |
Mdga1 |
T |
C |
17: 30,189,000 (GRCm39) |
N21S |
unknown |
Het |
Midn |
T |
A |
10: 79,989,961 (GRCm39) |
C126* |
probably null |
Het |
Mlh3 |
A |
T |
12: 85,292,598 (GRCm39) |
V1303E |
probably benign |
Het |
Myh4 |
T |
C |
11: 67,137,357 (GRCm39) |
L526P |
probably damaging |
Het |
Or10ag55-ps1 |
G |
A |
2: 87,114,672 (GRCm39) |
E13K |
probably benign |
Het |
Or5b3 |
T |
A |
19: 13,388,452 (GRCm39) |
V173E |
probably benign |
Het |
Pde6b |
C |
T |
5: 108,578,458 (GRCm39) |
R799* |
probably null |
Het |
Pde9a |
A |
G |
17: 31,685,414 (GRCm39) |
D382G |
probably benign |
Het |
Pdrg1 |
A |
C |
2: 152,852,176 (GRCm39) |
|
probably null |
Het |
Peg10 |
C |
CATCAGGATG |
6: 4,756,353 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
C |
A |
6: 14,718,980 (GRCm39) |
E645* |
probably null |
Het |
Prrc2b |
A |
G |
2: 32,112,300 (GRCm39) |
|
probably null |
Het |
Ptprb |
T |
A |
10: 116,153,277 (GRCm39) |
M578K |
probably benign |
Het |
Rasgrp3 |
G |
T |
17: 75,810,241 (GRCm39) |
V314F |
probably damaging |
Het |
Rps9 |
C |
A |
7: 3,708,775 (GRCm39) |
D84E |
probably benign |
Het |
Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
Serpina1e |
A |
G |
12: 103,915,397 (GRCm39) |
F270L |
probably benign |
Het |
Slc24a5 |
G |
A |
2: 124,910,778 (GRCm39) |
V70I |
probably benign |
Het |
Slfn14 |
C |
A |
11: 83,172,644 (GRCm39) |
|
probably null |
Het |
Smcr8 |
G |
T |
11: 60,669,688 (GRCm39) |
D279Y |
possibly damaging |
Het |
Snx16 |
A |
T |
3: 10,503,148 (GRCm39) |
V33D |
probably damaging |
Het |
Tesc |
A |
G |
5: 118,194,483 (GRCm39) |
T131A |
probably damaging |
Het |
Tnfaip8l3 |
G |
T |
9: 53,934,783 (GRCm39) |
T64K |
possibly damaging |
Het |
Vmn2r1 |
T |
A |
3: 64,012,567 (GRCm39) |
Y809* |
probably null |
Het |
Vmn2r25 |
A |
G |
6: 123,800,071 (GRCm39) |
V757A |
probably damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,182,327 (GRCm39) |
Y457* |
probably null |
Het |
Wee1 |
T |
C |
7: 109,723,870 (GRCm39) |
|
probably null |
Het |
Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
Zfp579 |
G |
T |
7: 4,997,425 (GRCm39) |
A162D |
probably benign |
Het |
Zfp811 |
A |
G |
17: 33,016,762 (GRCm39) |
F425S |
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 |
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 |
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'- TACCTCAGTGGAGCCTTCAC -3'
(R):5'- TTCAGAGTGGACTGCTTGCC -3'
Sequencing Primer
(F):5'- AGTGGAGCCTTCACCCAGC -3'
(R):5'- CTCTGGGCTGAGGCTGTAGC -3'
|
Posted On |
2018-09-12 |