Incidental Mutation 'R2195:Zkscan7'
| ID |
238322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan7
|
| Ensembl Gene |
ENSMUSG00000063488 |
| Gene Name |
zinc finger with KRAB and SCAN domains 7 |
| Synonyms |
Zfp167 |
| MMRRC Submission |
040197-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2195 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122715883-122727684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122724686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 552
(F552L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063980]
[ENSMUST00000215872]
|
| AlphaFold |
E9PVW1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063980
AA Change: F552L
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000071695
Gene: ENSMUSG00000063488
AA Change: F552L
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
45 |
156 |
1.18e-65 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
8.4e1 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
515 |
537 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
543 |
565 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
571 |
593 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
599 |
621 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
627 |
649 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
655 |
677 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
683 |
705 |
1.04e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216429
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216924
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
A |
T |
15: 72,991,318 (GRCm39) |
V540E |
probably benign |
Het |
| Cep295 |
T |
A |
9: 15,243,617 (GRCm39) |
Q1613L |
probably damaging |
Het |
| Cib3 |
A |
T |
8: 72,958,257 (GRCm39) |
I160N |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Coq10b |
T |
A |
1: 55,100,457 (GRCm39) |
L47Q |
probably damaging |
Het |
| Impg2 |
T |
C |
16: 56,080,497 (GRCm39) |
V767A |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kmt2e |
T |
C |
5: 23,707,194 (GRCm39) |
|
probably null |
Het |
| Marf1 |
T |
C |
16: 13,929,563 (GRCm39) |
D1681G |
probably benign |
Het |
| Nid1 |
G |
T |
13: 13,650,788 (GRCm39) |
V442L |
probably damaging |
Het |
| Or13a21 |
T |
C |
7: 139,999,138 (GRCm39) |
T183A |
possibly damaging |
Het |
| Or8k32 |
T |
C |
2: 86,369,247 (GRCm39) |
E2G |
probably benign |
Het |
| Ppfia1 |
T |
C |
7: 144,069,844 (GRCm39) |
N363S |
probably damaging |
Het |
| Stxbp2 |
A |
G |
8: 3,684,615 (GRCm39) |
|
probably null |
Het |
| Tnf |
A |
G |
17: 35,420,089 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zkscan7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Zkscan7
|
APN |
9 |
122,724,659 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01650:Zkscan7
|
APN |
9 |
122,723,892 (GRCm39) |
missense |
probably benign |
|
|
IGL01905:Zkscan7
|
APN |
9 |
122,719,826 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02466:Zkscan7
|
APN |
9 |
122,717,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0310:Zkscan7
|
UTSW |
9 |
122,717,958 (GRCm39) |
nonsense |
probably null |
|
|
R0355:Zkscan7
|
UTSW |
9 |
122,717,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0477:Zkscan7
|
UTSW |
9 |
122,719,874 (GRCm39) |
splice site |
probably null |
|
|
R1276:Zkscan7
|
UTSW |
9 |
122,719,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1426:Zkscan7
|
UTSW |
9 |
122,724,228 (GRCm39) |
missense |
probably benign |
|
|
R2055:Zkscan7
|
UTSW |
9 |
122,718,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2354:Zkscan7
|
UTSW |
9 |
122,723,892 (GRCm39) |
missense |
probably benign |
|
|
R4878:Zkscan7
|
UTSW |
9 |
122,719,865 (GRCm39) |
nonsense |
probably null |
|
|
R5106:Zkscan7
|
UTSW |
9 |
122,725,198 (GRCm39) |
unclassified |
probably benign |
|
|
R6266:Zkscan7
|
UTSW |
9 |
122,724,299 (GRCm39) |
nonsense |
probably null |
|
|
R6299:Zkscan7
|
UTSW |
9 |
122,717,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6513:Zkscan7
|
UTSW |
9 |
122,725,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6881:Zkscan7
|
UTSW |
9 |
122,717,766 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7640:Zkscan7
|
UTSW |
9 |
122,725,121 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7920:Zkscan7
|
UTSW |
9 |
122,724,974 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGCGAGGCATTCATTTG -3'
(R):5'- GATTAAAGGTGGACCGCTGAC -3'
Sequencing Primer
(F):5'- GTGTGGGAAAGCCTTCTATACCAAC -3'
(R):5'- CACCAGTATGGGTTCTCTGATGAAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation