Incidental Mutation 'R9740:Zmiz1'
| ID |
731808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmiz1
|
| Ensembl Gene |
ENSMUSG00000007817 |
| Gene Name |
zinc finger, MIZ-type containing 1 |
| Synonyms |
Rai17, Zimp10 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9740 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
25459609-25667167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25657250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 842
(D842G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007961]
[ENSMUST00000162645]
|
| AlphaFold |
Q6P1E1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007961
AA Change: D836G
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000007961
Gene: ENSMUSG00000007817
AA Change: D836G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
123 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
268 |
N/A |
INTRINSIC |
|
SCOP:d1gkub1
|
280 |
323 |
1e-3 |
SMART |
|
low complexity region
|
431 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
526 |
N/A |
INTRINSIC |
|
Pfam:zf-Nse
|
731 |
786 |
3.5e-8 |
PFAM |
|
Pfam:zf-MIZ
|
739 |
788 |
7.6e-26 |
PFAM |
|
low complexity region
|
867 |
881 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1039 |
1062 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162645
AA Change: D842G
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124863
Gene: ENSMUSG00000007817
AA Change: D842G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
123 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
268 |
N/A |
INTRINSIC |
|
SCOP:d1gkub1
|
280 |
309 |
2e-3 |
SMART |
|
low complexity region
|
437 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
532 |
N/A |
INTRINSIC |
|
Pfam:zf-MIZ
|
745 |
794 |
2.1e-26 |
PFAM |
|
low complexity region
|
873 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1045 |
1068 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
T |
G |
11: 5,821,721 (GRCm39) |
Y1087D |
probably benign |
Het |
| Bdh1 |
A |
G |
16: 31,256,853 (GRCm39) |
M37V |
possibly damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cemip2 |
A |
T |
19: 21,822,105 (GRCm39) |
M1167L |
probably benign |
Het |
| Clec1b |
C |
T |
6: 129,380,549 (GRCm39) |
S155L |
probably benign |
Het |
| Crym |
A |
T |
7: 119,794,661 (GRCm39) |
V186D |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Det1 |
A |
T |
7: 78,494,001 (GRCm39) |
M1K |
probably null |
Het |
| Fam110b |
A |
G |
4: 5,799,070 (GRCm39) |
K163E |
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,789 (GRCm39) |
V482E |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,899,868 (GRCm39) |
|
probably null |
Het |
| Herc1 |
A |
G |
9: 66,355,796 (GRCm39) |
E2349G |
probably damaging |
Het |
| Kdsr |
A |
G |
1: 106,667,126 (GRCm39) |
Y210H |
possibly damaging |
Het |
| Lcn6 |
A |
T |
2: 25,571,191 (GRCm39) |
T110S |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,266,177 (GRCm39) |
H6807R |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,366,853 (GRCm39) |
Y2636C |
probably damaging |
Het |
| Myh2 |
T |
G |
11: 67,080,052 (GRCm39) |
I1115S |
probably damaging |
Het |
| Npepl1 |
C |
A |
2: 173,963,283 (GRCm39) |
N438K |
probably damaging |
Het |
| Nrros |
G |
A |
16: 31,963,667 (GRCm39) |
H117Y |
possibly damaging |
Het |
| Or12e13 |
T |
C |
2: 87,663,895 (GRCm39) |
S171P |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,947,102 (GRCm39) |
T782A |
probably benign |
Het |
| Pla2g4d |
T |
G |
2: 120,107,952 (GRCm39) |
Q319P |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,096,294 (GRCm39) |
D266E |
probably benign |
Het |
| Slitrk6 |
A |
C |
14: 110,987,430 (GRCm39) |
L759W |
probably damaging |
Het |
| Slitrk6 |
T |
G |
14: 110,987,444 (GRCm39) |
L754F |
probably benign |
Het |
| Sox5 |
A |
T |
6: 144,100,947 (GRCm39) |
M14K |
probably damaging |
Het |
| Ssmem1 |
T |
A |
6: 30,512,454 (GRCm39) |
D32E |
possibly damaging |
Het |
| St18 |
A |
T |
1: 6,873,287 (GRCm39) |
R341* |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,587,288 (GRCm39) |
S4P |
probably damaging |
Het |
| Suz12 |
G |
T |
11: 79,889,920 (GRCm39) |
E144* |
probably null |
Het |
| Tex52 |
A |
G |
6: 128,356,673 (GRCm39) |
N122S |
possibly damaging |
Het |
| Tril |
A |
G |
6: 53,795,104 (GRCm39) |
L706P |
possibly damaging |
Het |
| Trim65 |
T |
C |
11: 116,021,434 (GRCm39) |
D133G |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,736,496 (GRCm39) |
I1166F |
probably damaging |
Het |
| Zfp709 |
C |
T |
8: 72,643,134 (GRCm39) |
R188C |
probably damaging |
Het |
| Zfp974 |
A |
G |
7: 27,610,025 (GRCm39) |
C567R |
probably damaging |
Het |
|
| Other mutations in Zmiz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Zmiz1
|
APN |
14 |
25,572,494 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
IGL01582:Zmiz1
|
APN |
14 |
25,658,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01601:Zmiz1
|
APN |
14 |
25,582,068 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02008:Zmiz1
|
APN |
14 |
25,657,303 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02395:Zmiz1
|
APN |
14 |
25,657,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02836:Zmiz1
|
APN |
14 |
25,657,166 (GRCm39) |
splice site |
probably benign |
|
|
zapp
|
UTSW |
14 |
25,663,404 (GRCm39) |
missense |
unknown |
|
|
R0144:Zmiz1
|
UTSW |
14 |
25,655,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Zmiz1
|
UTSW |
14 |
25,654,919 (GRCm39) |
splice site |
probably benign |
|
|
R1006:Zmiz1
|
UTSW |
14 |
25,663,404 (GRCm39) |
missense |
unknown |
|
|
R1160:Zmiz1
|
UTSW |
14 |
25,654,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Zmiz1
|
UTSW |
14 |
25,658,520 (GRCm39) |
splice site |
probably benign |
|
|
R2846:Zmiz1
|
UTSW |
14 |
25,646,099 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4126:Zmiz1
|
UTSW |
14 |
25,657,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4373:Zmiz1
|
UTSW |
14 |
25,636,434 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4374:Zmiz1
|
UTSW |
14 |
25,636,434 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4377:Zmiz1
|
UTSW |
14 |
25,636,434 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4533:Zmiz1
|
UTSW |
14 |
25,646,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Zmiz1
|
UTSW |
14 |
25,644,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5295:Zmiz1
|
UTSW |
14 |
25,656,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Zmiz1
|
UTSW |
14 |
25,650,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Zmiz1
|
UTSW |
14 |
25,645,280 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5761:Zmiz1
|
UTSW |
14 |
25,651,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5761:Zmiz1
|
UTSW |
14 |
25,651,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5844:Zmiz1
|
UTSW |
14 |
25,657,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5875:Zmiz1
|
UTSW |
14 |
25,636,390 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6051:Zmiz1
|
UTSW |
14 |
25,572,494 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R6919:Zmiz1
|
UTSW |
14 |
25,644,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Zmiz1
|
UTSW |
14 |
25,652,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Zmiz1
|
UTSW |
14 |
25,576,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7216:Zmiz1
|
UTSW |
14 |
25,576,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7216:Zmiz1
|
UTSW |
14 |
25,576,624 (GRCm39) |
frame shift |
probably null |
|
|
R7233:Zmiz1
|
UTSW |
14 |
25,650,092 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8674:Zmiz1
|
UTSW |
14 |
25,647,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8772:Zmiz1
|
UTSW |
14 |
25,646,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Zmiz1
|
UTSW |
14 |
25,651,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9611:Zmiz1
|
UTSW |
14 |
25,651,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9632:Zmiz1
|
UTSW |
14 |
25,663,411 (GRCm39) |
missense |
unknown |
|
|
X0023:Zmiz1
|
UTSW |
14 |
25,650,108 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Zmiz1
|
UTSW |
14 |
25,646,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCAACCACTTGTCTTTCTAAG -3'
(R):5'- CACGTTACACACCTTGGCTG -3'
Sequencing Primer
(F):5'- TCATCAAACAAGATGGTCCCATG -3'
(R):5'- ACACACCTTGGCTGCTGTAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation