Incidental Mutation 'R1586:Zscan29'
ID |
177488 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan29
|
Ensembl Gene |
ENSMUSG00000050619 |
Gene Name |
zinc finger SCAN domains 29 |
Synonyms |
Zfp690 |
MMRRC Submission |
039623-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R1586 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120988754-121001606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120991641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 716
(I716F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125987
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028702]
[ENSMUST00000066155]
[ENSMUST00000079024]
[ENSMUST00000110661]
[ENSMUST00000110665]
[ENSMUST00000119031]
[ENSMUST00000146243]
[ENSMUST00000163766]
|
AlphaFold |
E9Q5B4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028702
|
SMART Domains |
Protein: ENSMUSP00000028702 Gene: ENSMUSG00000027259
Domain | Start | End | E-Value | Type |
Pfam:A_deaminase
|
1 |
276 |
1.8e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066155
|
SMART Domains |
Protein: ENSMUSP00000067133 Gene: ENSMUSG00000027259
Domain | Start | End | E-Value | Type |
Pfam:A_deaminase
|
16 |
343 |
1.6e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079024
|
SMART Domains |
Protein: ENSMUSP00000078033 Gene: ENSMUSG00000050619
Domain | Start | End | E-Value | Type |
SCAN
|
13 |
125 |
5.83e-70 |
SMART |
Pfam:Myb_DNA-bind_4
|
238 |
323 |
3e-21 |
PFAM |
Pfam:Myb_DNA-bind_4
|
399 |
484 |
4.1e-22 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110661
AA Change: I681F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106289 Gene: ENSMUSG00000050619 AA Change: I681F
Domain | Start | End | E-Value | Type |
SCAN
|
13 |
125 |
5.83e-70 |
SMART |
Pfam:Myb_DNA-bind_4
|
238 |
323 |
5.4e-21 |
PFAM |
Pfam:Myb_DNA-bind_4
|
399 |
484 |
7.4e-22 |
PFAM |
low complexity region
|
518 |
532 |
N/A |
INTRINSIC |
ZnF_C2H2
|
665 |
687 |
2.99e-4 |
SMART |
ZnF_C2H2
|
693 |
715 |
2.75e-3 |
SMART |
ZnF_C2H2
|
721 |
743 |
8.02e-5 |
SMART |
ZnF_C2H2
|
749 |
771 |
1.13e-4 |
SMART |
ZnF_C2H2
|
777 |
799 |
1.18e-2 |
SMART |
ZnF_C2H2
|
805 |
827 |
1.33e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110665
|
SMART Domains |
Protein: ENSMUSP00000106293 Gene: ENSMUSG00000027259
Domain | Start | End | E-Value | Type |
Pfam:A_deaminase
|
2 |
236 |
4.3e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119031
|
SMART Domains |
Protein: ENSMUSP00000113052 Gene: ENSMUSG00000027259
Domain | Start | End | E-Value | Type |
Pfam:A_deaminase
|
16 |
343 |
3e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146243
|
SMART Domains |
Protein: ENSMUSP00000120997 Gene: ENSMUSG00000050619
Domain | Start | End | E-Value | Type |
SCAN
|
13 |
118 |
4.23e-58 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163766
AA Change: I716F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125987 Gene: ENSMUSG00000050619 AA Change: I716F
Domain | Start | End | E-Value | Type |
SCAN
|
13 |
125 |
5.83e-70 |
SMART |
Pfam:Myb_DNA-bind_4
|
238 |
323 |
5.9e-21 |
PFAM |
Pfam:Myb_DNA-bind_4
|
434 |
519 |
1.3e-21 |
PFAM |
low complexity region
|
553 |
567 |
N/A |
INTRINSIC |
ZnF_C2H2
|
700 |
722 |
2.99e-4 |
SMART |
ZnF_C2H2
|
728 |
750 |
2.75e-3 |
SMART |
ZnF_C2H2
|
756 |
778 |
8.02e-5 |
SMART |
ZnF_C2H2
|
784 |
806 |
1.13e-4 |
SMART |
ZnF_C2H2
|
812 |
834 |
1.18e-2 |
SMART |
ZnF_C2H2
|
840 |
862 |
1.33e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156370
|
Meta Mutation Damage Score |
0.1634 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.8%
|
Validation Efficiency |
93% (65/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
C |
T |
2: 25,337,228 (GRCm39) |
A2361V |
probably damaging |
Het |
Alpi |
A |
G |
1: 87,027,923 (GRCm39) |
I219T |
probably damaging |
Het |
Anapc10 |
T |
A |
8: 80,501,772 (GRCm39) |
M180K |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,713,708 (GRCm39) |
I431V |
probably damaging |
Het |
Anxa8 |
T |
A |
14: 33,815,894 (GRCm39) |
D182E |
probably damaging |
Het |
Atp1a3 |
T |
A |
7: 24,678,808 (GRCm39) |
I945F |
probably damaging |
Het |
Atp2a3 |
T |
C |
11: 72,882,570 (GRCm39) |
S1019P |
probably damaging |
Het |
Cbs |
T |
A |
17: 31,841,448 (GRCm39) |
I258F |
probably damaging |
Het |
Cic |
T |
C |
7: 24,985,386 (GRCm39) |
S277P |
probably damaging |
Het |
Cidea |
T |
A |
18: 67,493,230 (GRCm39) |
V83E |
probably damaging |
Het |
Cilp |
G |
A |
9: 65,186,997 (GRCm39) |
G1031S |
probably damaging |
Het |
Clca3a2 |
A |
G |
3: 144,516,477 (GRCm39) |
I373T |
possibly damaging |
Het |
Cpvl |
T |
A |
6: 53,903,886 (GRCm39) |
D293V |
probably damaging |
Het |
Cryz |
A |
G |
3: 154,317,147 (GRCm39) |
N122S |
probably benign |
Het |
Dmap1 |
T |
C |
4: 117,533,319 (GRCm39) |
E245G |
probably damaging |
Het |
Epha2 |
C |
T |
4: 141,045,916 (GRCm39) |
|
probably benign |
Het |
Fam222b |
C |
T |
11: 78,045,347 (GRCm39) |
L303F |
probably damaging |
Het |
Fastkd1 |
T |
C |
2: 69,542,492 (GRCm39) |
D105G |
probably benign |
Het |
Fat4 |
T |
A |
3: 38,943,009 (GRCm39) |
L634Q |
probably damaging |
Het |
Fbxo10 |
A |
T |
4: 45,042,036 (GRCm39) |
I731N |
possibly damaging |
Het |
Fig4 |
A |
G |
10: 41,141,423 (GRCm39) |
F279L |
probably damaging |
Het |
Guk1 |
A |
G |
11: 59,077,675 (GRCm39) |
S22P |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,762,934 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
T |
4: 123,403,639 (GRCm39) |
S727T |
probably benign |
Het |
Mki67 |
T |
A |
7: 135,315,701 (GRCm39) |
K54* |
probably null |
Het |
Ms4a8a |
T |
C |
19: 11,053,696 (GRCm39) |
T137A |
possibly damaging |
Het |
Myo5c |
T |
C |
9: 75,174,313 (GRCm39) |
Y557H |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,689,115 (GRCm39) |
K387N |
probably damaging |
Het |
Oga |
T |
G |
19: 45,765,349 (GRCm39) |
T153P |
possibly damaging |
Het |
Or5bb10 |
G |
T |
19: 12,206,241 (GRCm39) |
A223E |
probably damaging |
Het |
Pde4c |
T |
A |
8: 71,199,508 (GRCm39) |
Y223N |
probably damaging |
Het |
Psd |
T |
G |
19: 46,303,237 (GRCm39) |
E715A |
probably damaging |
Het |
Rpl7 |
A |
T |
1: 16,172,807 (GRCm39) |
S171T |
probably benign |
Het |
Rrm1 |
A |
G |
7: 102,116,112 (GRCm39) |
*66W |
probably null |
Het |
Scgb1b3 |
T |
A |
7: 31,075,388 (GRCm39) |
H79Q |
probably damaging |
Het |
Serpinb9 |
A |
T |
13: 33,199,469 (GRCm39) |
M255L |
probably benign |
Het |
Slc35a4 |
T |
C |
18: 36,816,058 (GRCm39) |
V296A |
probably benign |
Het |
Smgc |
G |
A |
15: 91,722,596 (GRCm39) |
A9T |
possibly damaging |
Het |
Snx11 |
C |
A |
11: 96,661,522 (GRCm39) |
W161L |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,929,068 (GRCm39) |
K533E |
possibly damaging |
Het |
Spata31g1 |
A |
G |
4: 42,971,512 (GRCm39) |
I282V |
probably benign |
Het |
Speer4b |
A |
G |
5: 27,702,011 (GRCm39) |
S250P |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,041,061 (GRCm39) |
H1287L |
probably benign |
Het |
Surf2 |
T |
C |
2: 26,809,767 (GRCm39) |
F239S |
probably damaging |
Het |
Tada1 |
G |
A |
1: 166,214,319 (GRCm39) |
R106H |
possibly damaging |
Het |
Tbc1d22a |
C |
A |
15: 86,235,852 (GRCm39) |
|
probably null |
Het |
Tbcd |
A |
G |
11: 121,387,886 (GRCm39) |
Q339R |
probably benign |
Het |
Tdrd7 |
A |
G |
4: 45,994,445 (GRCm39) |
H281R |
probably benign |
Het |
Tomm5 |
A |
G |
4: 45,107,915 (GRCm39) |
|
probably null |
Het |
Ttc7 |
T |
C |
17: 87,669,373 (GRCm39) |
|
probably null |
Het |
Ulk1 |
A |
T |
5: 110,937,382 (GRCm39) |
F638Y |
probably damaging |
Het |
Vps35l |
T |
A |
7: 118,409,195 (GRCm39) |
I612N |
probably damaging |
Het |
Wdr93 |
C |
A |
7: 79,418,109 (GRCm39) |
D277E |
probably damaging |
Het |
Znrf3 |
T |
C |
11: 5,231,477 (GRCm39) |
R583G |
probably damaging |
Het |
|
Other mutations in Zscan29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01935:Zscan29
|
APN |
2 |
121,000,538 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01938:Zscan29
|
APN |
2 |
120,996,690 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02220:Zscan29
|
APN |
2 |
120,997,170 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02370:Zscan29
|
APN |
2 |
120,994,314 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02585:Zscan29
|
APN |
2 |
120,994,357 (GRCm39) |
nonsense |
probably null |
|
R0284:Zscan29
|
UTSW |
2 |
120,997,214 (GRCm39) |
unclassified |
probably benign |
|
R0842:Zscan29
|
UTSW |
2 |
120,991,960 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1245:Zscan29
|
UTSW |
2 |
120,996,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R1654:Zscan29
|
UTSW |
2 |
120,995,260 (GRCm39) |
missense |
probably benign |
0.06 |
R1958:Zscan29
|
UTSW |
2 |
121,000,289 (GRCm39) |
critical splice donor site |
probably null |
|
R2073:Zscan29
|
UTSW |
2 |
120,991,336 (GRCm39) |
nonsense |
probably null |
|
R2085:Zscan29
|
UTSW |
2 |
121,000,427 (GRCm39) |
nonsense |
probably null |
|
R2145:Zscan29
|
UTSW |
2 |
121,000,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Zscan29
|
UTSW |
2 |
120,999,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R2875:Zscan29
|
UTSW |
2 |
120,994,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R2876:Zscan29
|
UTSW |
2 |
120,994,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R3861:Zscan29
|
UTSW |
2 |
120,991,212 (GRCm39) |
missense |
probably benign |
0.01 |
R4244:Zscan29
|
UTSW |
2 |
120,995,275 (GRCm39) |
splice site |
probably null |
|
R4245:Zscan29
|
UTSW |
2 |
120,995,275 (GRCm39) |
splice site |
probably null |
|
R4447:Zscan29
|
UTSW |
2 |
121,000,367 (GRCm39) |
splice site |
probably null |
|
R4662:Zscan29
|
UTSW |
2 |
120,997,096 (GRCm39) |
missense |
probably benign |
0.26 |
R4757:Zscan29
|
UTSW |
2 |
120,991,392 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4777:Zscan29
|
UTSW |
2 |
120,999,805 (GRCm39) |
missense |
probably damaging |
0.96 |
R4905:Zscan29
|
UTSW |
2 |
120,991,864 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4970:Zscan29
|
UTSW |
2 |
120,999,676 (GRCm39) |
splice site |
probably null |
|
R5860:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5861:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5862:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5916:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5917:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5918:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R6335:Zscan29
|
UTSW |
2 |
120,991,917 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7214:Zscan29
|
UTSW |
2 |
120,999,761 (GRCm39) |
nonsense |
probably null |
|
R7326:Zscan29
|
UTSW |
2 |
120,991,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R7997:Zscan29
|
UTSW |
2 |
120,991,221 (GRCm39) |
missense |
probably benign |
0.01 |
R8787:Zscan29
|
UTSW |
2 |
120,996,876 (GRCm39) |
missense |
probably damaging |
1.00 |
RF001:Zscan29
|
UTSW |
2 |
120,994,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCGGTGTTTACTAAGGGCAGAGC -3'
(R):5'- AAGTCCTGACCTATCAGAGGCCAG -3'
Sequencing Primer
(F):5'- cttttcccacactcttcacac -3'
(R):5'- GGCTTGGAAGACAGACCTTA -3'
|
Posted On |
2014-04-24 |