Incidental Mutation 'R1245:Zscan29'
| ID |
152115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan29
|
| Ensembl Gene |
ENSMUSG00000050619 |
| Gene Name |
zinc finger SCAN domains 29 |
| Synonyms |
Zfp690 |
| MMRRC Submission |
039312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R1245 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120988754-121001606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120996984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 246
(T246A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000079024]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000110661]
[ENSMUST00000163766]
[ENSMUST00000146243]
[ENSMUST00000186659]
|
| AlphaFold |
E9Q5B4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039541
|
| SMART Domains |
Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
573 |
2.8e-111 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079024
AA Change: T246A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078033
Gene: ENSMUSG00000050619
AA Change: T246A
| 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 benign
Transcript: ENSMUST00000110657
|
| SMART Domains |
Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
3.1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110658
|
| SMART Domains |
Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110661
AA Change: T246A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106289
Gene: ENSMUSG00000050619
AA Change: T246A
| 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 |
noncoding transcript
Transcript: ENSMUST00000130929
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133773
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163766
AA Change: T246A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125987
Gene: ENSMUSG00000050619
AA Change: T246A
| 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 |
silent
Transcript: ENSMUST00000146243
|
| SMART Domains |
Protein: ENSMUSP00000120997
Gene: ENSMUSG00000050619
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
13 |
118 |
4.23e-58 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186659
|
| SMART Domains |
Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Meta Mutation Damage Score |
0.4041 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,119,410 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
| Cblb |
C |
A |
16: 51,867,550 (GRCm39) |
|
probably benign |
Het |
| Cd22 |
A |
G |
7: 30,569,308 (GRCm39) |
S603P |
probably damaging |
Het |
| Col6a6 |
G |
A |
9: 105,626,109 (GRCm39) |
R1515C |
possibly damaging |
Het |
| Csf1r |
C |
A |
18: 61,247,884 (GRCm39) |
D317E |
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,091,803 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
G |
A |
10: 24,660,851 (GRCm39) |
|
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm5828 |
A |
T |
1: 16,839,353 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr137c |
T |
C |
14: 45,516,522 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,602,795 (GRCm39) |
|
probably null |
Het |
| Kctd7 |
A |
G |
5: 130,177,058 (GRCm39) |
H96R |
possibly damaging |
Het |
| Lmcd1 |
T |
A |
6: 112,292,673 (GRCm39) |
V175E |
probably benign |
Het |
| Lrfn2 |
A |
T |
17: 49,403,277 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
C |
T |
17: 75,634,189 (GRCm39) |
|
probably benign |
Het |
| Myc |
A |
G |
15: 61,859,746 (GRCm39) |
I140V |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,364,352 (GRCm39) |
E100G |
probably damaging |
Het |
| Ncs1 |
A |
G |
2: 31,174,705 (GRCm39) |
N143S |
probably benign |
Het |
| Nmnat2 |
A |
G |
1: 152,987,949 (GRCm39) |
D238G |
probably benign |
Het |
| Or10ag57 |
T |
A |
2: 87,218,553 (GRCm39) |
V168E |
probably benign |
Het |
| Ppp2r3d |
G |
A |
9: 101,071,593 (GRCm39) |
T675I |
probably damaging |
Het |
| Psma2 |
A |
G |
13: 14,787,876 (GRCm39) |
Y6C |
probably damaging |
Het |
| Rspo4 |
G |
A |
2: 151,709,846 (GRCm39) |
E84K |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,965,457 (GRCm39) |
V1015I |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,974,436 (GRCm39) |
D632G |
possibly damaging |
Het |
| Sppl2a |
A |
T |
2: 126,755,441 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,066,427 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,776,044 (GRCm39) |
K1666M |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,937,206 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
G |
1: 66,594,254 (GRCm39) |
D1211G |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,822,228 (GRCm39) |
Q302R |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
| Wnk1 |
C |
T |
6: 119,925,418 (GRCm39) |
V1847I |
probably benign |
Het |
| Zfp653 |
A |
T |
9: 21,967,718 (GRCm39) |
I529N |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,807,104 (GRCm39) |
S99P |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,550,508 (GRCm39) |
|
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 |
|
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 |
|
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'- AATGACCAAGCTGGTAAGTGGTTCC -3'
(R):5'- AATGTGGTGTCCAGGTTGGATCAAG -3'
Sequencing Primer
(F):5'- TGAAATGACCTGGGCACTC -3'
(R):5'- TCCAGGTTGGATCAAGGAGAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation