Incidental Mutation 'R6335:Zscan29'
| ID |
512891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan29
|
| Ensembl Gene |
ENSMUSG00000050619 |
| Gene Name |
zinc finger SCAN domains 29 |
| Synonyms |
Zfp690 |
| MMRRC Submission |
044489-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R6335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120988754-121001606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120991917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 589
(N589D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106289
(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 |
silent
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 |
possibly damaging
Transcript: ENSMUST00000110661
AA Change: N589D
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106289
Gene: ENSMUSG00000050619
AA Change: N589D
| 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 benign
Transcript: ENSMUST00000163766
AA Change: N624D
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000125987
Gene: ENSMUSG00000050619
AA Change: N624D
| 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: ENSMUST00000156370
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11a |
T |
C |
8: 12,909,481 (GRCm39) |
|
probably null |
Het |
| Best3 |
G |
T |
10: 116,838,556 (GRCm39) |
V205F |
probably benign |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,960 (GRCm39) |
H210R |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,823,894 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
C |
4: 70,184,849 (GRCm39) |
D1200E |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,967,784 (GRCm39) |
I756N |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,130,560 (GRCm39) |
Q947L |
probably benign |
Het |
| Dcaf1 |
A |
G |
9: 106,715,845 (GRCm39) |
T321A |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,774,724 (GRCm39) |
M87V |
probably benign |
Het |
| Dmrt2 |
T |
A |
19: 25,650,935 (GRCm39) |
S40R |
possibly damaging |
Het |
| Dpep1 |
T |
G |
8: 123,927,391 (GRCm39) |
L315R |
probably damaging |
Het |
| Fam221b |
G |
T |
4: 43,665,942 (GRCm39) |
T223N |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,706,185 (GRCm39) |
V1053E |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,208,973 (GRCm39) |
D227G |
probably damaging |
Het |
| Grik1 |
A |
G |
16: 87,744,794 (GRCm39) |
L486P |
probably damaging |
Het |
| Grik5 |
A |
G |
7: 24,713,019 (GRCm39) |
S836P |
probably benign |
Het |
| Grpel2 |
T |
C |
18: 61,852,792 (GRCm39) |
K70R |
possibly damaging |
Het |
| Ipo7 |
A |
G |
7: 109,617,675 (GRCm39) |
D15G |
possibly damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,377,772 (GRCm39) |
Y1284H |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,138,072 (GRCm39) |
S692P |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,034,905 (GRCm39) |
L447P |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,550,384 (GRCm39) |
D680G |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,572,004 (GRCm39) |
I172F |
unknown |
Het |
| Musk |
A |
G |
4: 58,366,811 (GRCm39) |
I476M |
probably benign |
Het |
| Myef2 |
T |
C |
2: 124,951,632 (GRCm39) |
T268A |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,563,060 (GRCm39) |
S702P |
probably damaging |
Het |
| Napa |
G |
T |
7: 15,849,562 (GRCm39) |
S258I |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,504,132 (GRCm39) |
I1039F |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,228,902 (GRCm39) |
S1238G |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,746,144 (GRCm39) |
V146A |
probably benign |
Het |
| Or1j12 |
A |
G |
2: 36,342,734 (GRCm39) |
I46V |
probably benign |
Het |
| Or5w8 |
T |
A |
2: 87,687,811 (GRCm39) |
C97* |
probably null |
Het |
| Pacs1 |
G |
T |
19: 5,210,005 (GRCm39) |
N215K |
probably damaging |
Het |
| Parp10 |
A |
G |
15: 76,126,388 (GRCm39) |
S267P |
probably benign |
Het |
| Pbrm1 |
G |
T |
14: 30,806,052 (GRCm39) |
C995F |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 58,099,607 (GRCm39) |
|
probably null |
Het |
| Ppef2 |
T |
C |
5: 92,383,613 (GRCm39) |
Y499C |
probably damaging |
Het |
| Pramel16 |
G |
T |
4: 143,675,602 (GRCm39) |
T408K |
probably benign |
Het |
| Prex2 |
A |
C |
1: 11,180,544 (GRCm39) |
I370L |
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,872,420 (GRCm39) |
Y1350H |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,124,351 (GRCm39) |
K284E |
probably damaging |
Het |
| Rexo1 |
A |
T |
10: 80,379,915 (GRCm39) |
Y23N |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sash3 |
C |
T |
X: 47,248,398 (GRCm39) |
L307F |
probably damaging |
Homo |
| Scn9a |
T |
A |
2: 66,398,608 (GRCm39) |
M1L |
possibly damaging |
Het |
| Serpinb6e |
C |
A |
13: 34,021,805 (GRCm39) |
L174F |
probably benign |
Het |
| Siae |
C |
T |
9: 37,544,277 (GRCm39) |
T275I |
probably benign |
Het |
| Sptbn5 |
C |
A |
2: 119,884,900 (GRCm39) |
|
probably benign |
Het |
| Ss18l2 |
C |
T |
9: 121,541,672 (GRCm39) |
T55I |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,328,518 (GRCm39) |
C163R |
probably damaging |
Het |
| Tanc2 |
C |
T |
11: 105,748,382 (GRCm39) |
R505W |
probably damaging |
Het |
| Tango6 |
C |
A |
8: 107,419,308 (GRCm39) |
P285Q |
possibly damaging |
Het |
| Tdrd9 |
G |
T |
12: 112,008,186 (GRCm39) |
|
probably null |
Het |
| Tead3 |
A |
T |
17: 28,552,299 (GRCm39) |
L307H |
probably damaging |
Het |
| Ticrr |
A |
C |
7: 79,344,031 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
T |
C |
3: 54,224,995 (GRCm39) |
|
probably null |
Het |
| Upb1 |
A |
T |
10: 75,264,135 (GRCm39) |
T194S |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,470,512 (GRCm39) |
N566S |
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,887 (GRCm39) |
S175R |
probably benign |
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 |
|
R1586:Zscan29
|
UTSW |
2 |
120,991,641 (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 |
|
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'- CCTGAGATGGGAGTTTGAACC -3'
(R):5'- AAGGTAGTACTTGTTTCTCCCAGC -3'
Sequencing Primer
(F):5'- TGGGAGTTTGAACCAGAGC -3'
(R):5'- GTAGTACTTGTTTCTCCCAGCTTTGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation