Incidental Mutation 'R7724:Zfp541'
| ID |
595391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp541
|
| Ensembl Gene |
ENSMUSG00000078796 |
| Gene Name |
zinc finger protein 541 |
| Synonyms |
EG666528 |
| MMRRC Submission |
045780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.750)
|
| Stock # |
R7724 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
15795739-15830259 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15805919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 18
(L18P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108509]
[ENSMUST00000209369]
[ENSMUST00000210805]
|
| AlphaFold |
Q0GGX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108509
AA Change: L18P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104149
Gene: ENSMUSG00000078796
AA Change: L18P
| 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: L18P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210805
AA Change: L18P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
C |
15: 57,885,857 (GRCm39) |
S342A |
probably benign |
Het |
| Adarb2 |
C |
A |
13: 8,620,292 (GRCm39) |
H259Q |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,682,289 (GRCm39) |
I150N |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,938,567 (GRCm39) |
I75N |
probably damaging |
Het |
| Arhgef17 |
C |
T |
7: 100,529,816 (GRCm39) |
G480S |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,604,060 (GRCm39) |
Y208H |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,164,813 (GRCm39) |
N1168Y |
possibly damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,686 (GRCm39) |
N148D |
possibly damaging |
Het |
| Cdh15 |
G |
T |
8: 123,593,700 (GRCm39) |
D765Y |
probably damaging |
Het |
| Celf4 |
C |
T |
18: 25,619,850 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
G |
A |
10: 41,621,838 (GRCm39) |
T26M |
possibly damaging |
Het |
| Ces2g |
T |
A |
8: 105,693,484 (GRCm39) |
D388E |
probably benign |
Het |
| Cir1 |
T |
C |
2: 73,137,234 (GRCm39) |
N69S |
possibly damaging |
Het |
| Ctc1 |
C |
A |
11: 68,917,170 (GRCm39) |
H355N |
probably benign |
Het |
| Ebf2 |
A |
T |
14: 67,661,489 (GRCm39) |
K539M |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,175,622 (GRCm39) |
G1697E |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,936,432 (GRCm39) |
D76G |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,642,894 (GRCm39) |
S1786T |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,229,888 (GRCm39) |
E18D |
probably damaging |
Het |
| Gbp8 |
A |
T |
5: 105,179,160 (GRCm39) |
I113N |
probably damaging |
Het |
| Gm10549 |
A |
T |
18: 33,603,912 (GRCm39) |
R132* |
probably null |
Het |
| Gmps |
T |
A |
3: 63,893,074 (GRCm39) |
D126E |
possibly damaging |
Het |
| Gria4 |
A |
G |
9: 4,472,074 (GRCm39) |
Y472H |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,873,789 (GRCm39) |
Y2235C |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,230,323 (GRCm39) |
N187S |
unknown |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,405 (GRCm39) |
K351E |
probably benign |
Het |
| Klhl23 |
A |
G |
2: 69,655,056 (GRCm39) |
T309A |
probably benign |
Het |
| Ldhal6b |
A |
G |
17: 5,468,877 (GRCm39) |
V19A |
probably benign |
Het |
| Lrrc59 |
C |
T |
11: 94,534,170 (GRCm39) |
R243C |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 103,923,243 (GRCm39) |
I1158R |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,922,833 (GRCm39) |
Y613N |
probably damaging |
Het |
| Myoc |
T |
A |
1: 162,467,396 (GRCm39) |
|
probably null |
Het |
| Npas3 |
C |
A |
12: 54,115,124 (GRCm39) |
S682Y |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,274,887 (GRCm39) |
V172A |
probably benign |
Het |
| Or2t46 |
T |
A |
11: 58,472,208 (GRCm39) |
H179Q |
probably benign |
Het |
| Or52r1c |
T |
A |
7: 102,735,470 (GRCm39) |
C243* |
probably null |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,777,459 (GRCm39) |
Y52H |
probably damaging |
Het |
| Or8k30 |
A |
G |
2: 86,338,949 (GRCm39) |
T49A |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,775 (GRCm39) |
S32T |
possibly damaging |
Het |
| P2rx7 |
A |
T |
5: 122,811,436 (GRCm39) |
I331F |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,937 (GRCm39) |
T348S |
possibly damaging |
Het |
| Prdx6b |
A |
G |
2: 80,123,746 (GRCm39) |
E185G |
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,600,576 (GRCm39) |
K200E |
possibly damaging |
Het |
| Sema6c |
A |
T |
3: 95,080,510 (GRCm39) |
R935W |
probably damaging |
Het |
| Serpinb5 |
A |
T |
1: 106,802,872 (GRCm39) |
I136F |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,622,289 (GRCm39) |
Y31* |
probably null |
Het |
| St6galnac1 |
C |
T |
11: 116,656,898 (GRCm39) |
|
probably null |
Het |
| Synj1 |
G |
A |
16: 90,758,387 (GRCm39) |
T819M |
probably damaging |
Het |
| Tacr3 |
T |
A |
3: 134,635,669 (GRCm39) |
V291E |
probably damaging |
Het |
| Tdo2 |
A |
G |
3: 81,875,390 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
A |
8: 34,036,291 (GRCm39) |
D72E |
possibly damaging |
Het |
| Tph2 |
T |
C |
10: 114,915,727 (GRCm39) |
T438A |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,777,187 (GRCm39) |
T525A |
probably benign |
Het |
| Ulk1 |
A |
T |
5: 110,940,270 (GRCm39) |
C384S |
probably benign |
Het |
| Uvrag |
T |
C |
7: 98,641,170 (GRCm39) |
D290G |
probably benign |
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 |
|
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 |
|
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'- CGTCCTTGTTCATTTTCAGGAG -3'
(R):5'- CAGAGTCTGCATATTCTTCCAGCAG -3'
Sequencing Primer
(F):5'- CATTTTCAGGAGCTAGCTGCCAG -3'
(R):5'- ATATTCTTCCAGCAGCTTCACAGAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation