Incidental Mutation 'R8047:Patz1'
| ID |
618823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Patz1
|
| Ensembl Gene |
ENSMUSG00000020453 |
| Gene Name |
POZ (BTB) and AT hook containing zinc finger 1 |
| Synonyms |
MAZR, 8430401L15Rik, POZ-AT hook-zinc finger protein, Zfp278 |
| MMRRC Submission |
067484-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R8047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
3239131-3259083 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3256283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 523
(P523L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057089]
[ENSMUST00000093402]
[ENSMUST00000110043]
[ENSMUST00000134089]
[ENSMUST00000154319]
|
| AlphaFold |
Q5NBY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057089
|
| SMART Domains |
Protein: ENSMUSP00000050684
Gene: ENSMUSG00000020453
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
41 |
160 |
7.97e-24 |
SMART |
|
low complexity region
|
209 |
224 |
N/A |
INTRINSIC |
|
AT_hook
|
264 |
276 |
1.74e-1 |
SMART |
|
ZnF_C2H2
|
292 |
314 |
1.18e-2 |
SMART |
|
AT_hook
|
345 |
357 |
2.82e2 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
413 |
436 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
468 |
489 |
2.01e1 |
SMART |
|
ZnF_C2H2
|
559 |
582 |
1.98e-4 |
SMART |
|
low complexity region
|
585 |
598 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093402
|
| SMART Domains |
Protein: ENSMUSP00000091103
Gene: ENSMUSG00000020453
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
41 |
160 |
7.97e-24 |
SMART |
|
low complexity region
|
209 |
224 |
N/A |
INTRINSIC |
|
AT_hook
|
264 |
276 |
1.74e-1 |
SMART |
|
ZnF_C2H2
|
292 |
314 |
1.18e-2 |
SMART |
|
AT_hook
|
345 |
357 |
2.82e2 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
413 |
436 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
468 |
489 |
2.01e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110043
AA Change: P523L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105670
Gene: ENSMUSG00000020453
AA Change: P523L
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
41 |
160 |
7.97e-24 |
SMART |
|
low complexity region
|
209 |
224 |
N/A |
INTRINSIC |
|
AT_hook
|
264 |
276 |
1.74e-1 |
SMART |
|
ZnF_C2H2
|
292 |
314 |
1.18e-2 |
SMART |
|
AT_hook
|
345 |
357 |
2.82e2 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
413 |
436 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
468 |
489 |
2.01e1 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
1.26e-2 |
SMART |
|
Pfam:zf-C2H2_assoc3
|
536 |
604 |
6.5e-36 |
PFAM |
|
ZnF_C2H2
|
605 |
628 |
1.98e-4 |
SMART |
|
low complexity region
|
631 |
644 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134089
|
| SMART Domains |
Protein: ENSMUSP00000138522
Gene: ENSMUSG00000020453
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
5 |
29 |
2.82e0 |
SMART |
|
ZnF_C2H2
|
33 |
54 |
2.01e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154319
|
| SMART Domains |
Protein: ENSMUSP00000122832
Gene: ENSMUSG00000020453
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
6 |
25 |
5.68e1 |
SMART |
|
ZnF_C2H2
|
29 |
50 |
2.01e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic and fetal lethality, exencephaly, nervous system defects, outflow defects, transposition of great arteries, postnatal growth retardation and male and female infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
G |
A |
8: 80,427,817 (GRCm39) |
T157I |
possibly damaging |
Het |
| Cd200l2 |
T |
C |
16: 45,340,829 (GRCm39) |
I245V |
probably benign |
Het |
| Cdh22 |
G |
A |
2: 165,012,687 (GRCm39) |
R133W |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,247 (GRCm39) |
N1428K |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,408,972 (GRCm39) |
D892V |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,650,496 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
T |
6: 87,088,454 (GRCm39) |
V206F |
unknown |
Het |
| Dnaaf9 |
A |
T |
2: 130,617,019 (GRCm39) |
V439E |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,870,208 (GRCm39) |
I625M |
possibly damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,317,139 (GRCm39) |
S20P |
probably benign |
Het |
| Eef1e1 |
T |
C |
13: 38,830,222 (GRCm39) |
Q150R |
probably damaging |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Engase |
T |
C |
11: 118,377,282 (GRCm39) |
S526P |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,231 (GRCm39) |
D293V |
probably damaging |
Het |
| Gipc3 |
T |
A |
10: 81,177,132 (GRCm39) |
N146I |
probably damaging |
Het |
| Gm11569 |
T |
C |
11: 99,689,616 (GRCm39) |
T28A |
unknown |
Het |
| Gm43302 |
T |
C |
5: 105,422,623 (GRCm39) |
I470V |
possibly damaging |
Het |
| Gpihbp1 |
A |
G |
15: 75,469,627 (GRCm39) |
Q114R |
possibly damaging |
Het |
| Grhl2 |
T |
A |
15: 37,336,465 (GRCm39) |
M454K |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,462,866 (GRCm39) |
|
probably null |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
| Kif1b |
C |
A |
4: 149,299,379 (GRCm39) |
V1010L |
probably damaging |
Het |
| Krt8 |
A |
T |
15: 101,912,406 (GRCm39) |
I90N |
probably damaging |
Het |
| Lrrc69 |
A |
T |
4: 14,773,726 (GRCm39) |
I110N |
probably benign |
Het |
| Lta |
T |
C |
17: 35,423,011 (GRCm39) |
Y104C |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,009,546 (GRCm39) |
Y13H |
probably damaging |
Het |
| Mccc2 |
C |
T |
13: 100,091,181 (GRCm39) |
V439I |
probably benign |
Het |
| Mecom |
T |
A |
3: 30,292,404 (GRCm39) |
D35V |
|
Het |
| Msra |
C |
T |
14: 64,522,612 (GRCm39) |
A76T |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 112,871,681 (GRCm39) |
D2133E |
possibly damaging |
Het |
| Ncapd2 |
C |
T |
6: 125,166,762 (GRCm39) |
V31M |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,346,374 (GRCm39) |
V274A |
probably benign |
Het |
| Or5m11b |
T |
C |
2: 85,806,271 (GRCm39) |
I228T |
possibly damaging |
Het |
| Pbx2 |
T |
C |
17: 34,814,262 (GRCm39) |
S350P |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,760,187 (GRCm39) |
I361T |
probably benign |
Het |
| Ppat |
G |
T |
5: 77,073,557 (GRCm39) |
N122K |
probably damaging |
Het |
| Prss23 |
T |
A |
7: 89,159,136 (GRCm39) |
Q311L |
probably damaging |
Het |
| Psg26 |
G |
T |
7: 18,212,474 (GRCm39) |
Q294K |
possibly damaging |
Het |
| Rab3il1 |
G |
T |
19: 10,011,166 (GRCm39) |
R285L |
probably benign |
Het |
| Radil |
A |
G |
5: 142,480,695 (GRCm39) |
C587R |
probably damaging |
Het |
| Rd3 |
A |
T |
1: 191,709,620 (GRCm39) |
|
probably benign |
Het |
| Reck |
T |
C |
4: 43,927,221 (GRCm39) |
L504P |
probably damaging |
Het |
| Rmc1 |
C |
T |
18: 12,313,586 (GRCm39) |
T233M |
possibly damaging |
Het |
| Selenov |
A |
C |
7: 27,990,108 (GRCm39) |
L132R |
probably benign |
Het |
| Spag16 |
A |
T |
1: 69,882,155 (GRCm39) |
D49V |
probably damaging |
Het |
| Ston2 |
C |
T |
12: 91,608,617 (GRCm39) |
V828I |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,694,672 (GRCm39) |
S262P |
probably benign |
Het |
| Tlnrd1 |
A |
T |
7: 83,532,069 (GRCm39) |
S121T |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,719,636 (GRCm39) |
K1011* |
probably null |
Het |
| Vmn2r89 |
T |
A |
14: 51,692,549 (GRCm39) |
D117E |
probably benign |
Het |
| Zbtb7c |
A |
C |
18: 76,270,221 (GRCm39) |
N103T |
probably damaging |
Het |
| Zfp764 |
T |
C |
7: 127,005,412 (GRCm39) |
E75G |
probably damaging |
Het |
|
| Other mutations in Patz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02187:Patz1
|
APN |
11 |
3,241,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02954:Patz1
|
APN |
11 |
3,241,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Patz1
|
APN |
11 |
3,240,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Patz1
|
UTSW |
11 |
3,243,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0758:Patz1
|
UTSW |
11 |
3,240,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1680:Patz1
|
UTSW |
11 |
3,257,812 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1954:Patz1
|
UTSW |
11 |
3,241,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4610:Patz1
|
UTSW |
11 |
3,256,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Patz1
|
UTSW |
11 |
3,257,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5832:Patz1
|
UTSW |
11 |
3,256,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7172:Patz1
|
UTSW |
11 |
3,258,032 (GRCm39) |
missense |
probably benign |
|
|
R7454:Patz1
|
UTSW |
11 |
3,248,297 (GRCm39) |
start gained |
probably benign |
|
|
R8026:Patz1
|
UTSW |
11 |
3,257,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8938:Patz1
|
UTSW |
11 |
3,240,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8946:Patz1
|
UTSW |
11 |
3,241,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8965:Patz1
|
UTSW |
11 |
3,257,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Patz1
|
UTSW |
11 |
3,240,720 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9664:Patz1
|
UTSW |
11 |
3,244,562 (GRCm39) |
missense |
unknown |
|
|
Z1177:Patz1
|
UTSW |
11 |
3,241,751 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCTCATGTGATGATTGC -3'
(R):5'- TAGAGAGCACTGCGATTCTTG -3'
Sequencing Primer
(F):5'- GCAGATGCTTTTGAGCCAAG -3'
(R):5'- GCACTGCGATTCTTGCCTCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation