Incidental Mutation 'R5170:Zfp740'
| ID |
397524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp740
|
| Ensembl Gene |
ENSMUSG00000046897 |
| Gene Name |
zinc finger protein 740 |
| Synonyms |
1110034O07Rik |
| MMRRC Submission |
042750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R5170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102112080-102124045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102117640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 117
(Y117H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118729]
[ENSMUST00000119168]
[ENSMUST00000119800]
[ENSMUST00000121206]
[ENSMUST00000133986]
[ENSMUST00000139960]
[ENSMUST00000141465]
[ENSMUST00000230867]
[ENSMUST00000231030]
[ENSMUST00000229886]
[ENSMUST00000230687]
[ENSMUST00000229345]
[ENSMUST00000229514]
|
| AlphaFold |
Q6NZQ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118729
AA Change: Y117H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112985
Gene: ENSMUSG00000046897
AA Change: Y117H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
62 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
76 |
98 |
3.07e-1 |
SMART |
|
ZnF_C2H2
|
104 |
126 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
132 |
152 |
4.99e1 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000119168
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119800
AA Change: Y129H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113770
Gene: ENSMUSG00000046897
AA Change: Y129H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
74 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
88 |
110 |
3.07e-1 |
SMART |
|
ZnF_C2H2
|
116 |
138 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
144 |
164 |
4.99e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119830
|
| SMART Domains |
Protein: ENSMUSP00000113281
Gene: ENSMUSG00000046897
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
25 |
47 |
3.07e-1 |
SMART |
|
ZnF_C2H2
|
53 |
75 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
81 |
101 |
4.99e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123528
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133986
|
| SMART Domains |
Protein: ENSMUSP00000122429
Gene: ENSMUSG00000046897
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139960
|
| SMART Domains |
Protein: ENSMUSP00000117024
Gene: ENSMUSG00000046897
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
74 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
88 |
107 |
9e-7 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000141465
AA Change: Y154H
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230867
AA Change: Y92H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231030
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230600
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229886
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229514
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,745,969 (GRCm39) |
I51V |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,633,541 (GRCm39) |
K559R |
probably benign |
Het |
| Arhgap30 |
A |
G |
1: 171,235,618 (GRCm39) |
D664G |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,089,396 (GRCm39) |
V798A |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,167,302 (GRCm39) |
C2237* |
probably null |
Het |
| C3 |
C |
T |
17: 57,530,938 (GRCm39) |
V388M |
probably damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,464,200 (GRCm39) |
E60K |
probably damaging |
Het |
| Cdh8 |
G |
A |
8: 100,006,182 (GRCm39) |
T135M |
probably damaging |
Het |
| Cep131 |
G |
T |
11: 119,961,435 (GRCm39) |
A572E |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,559,655 (GRCm39) |
Y976C |
probably benign |
Het |
| Cplx3 |
G |
A |
9: 57,522,902 (GRCm39) |
R153* |
probably null |
Het |
| Defa41 |
A |
T |
8: 21,691,696 (GRCm39) |
D26V |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,553,040 (GRCm39) |
I393V |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,748,520 (GRCm39) |
V305A |
probably benign |
Het |
| Fry |
G |
A |
5: 150,353,319 (GRCm39) |
V1779M |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,748,465 (GRCm39) |
|
probably null |
Het |
| Gucy2e |
A |
T |
11: 69,126,396 (GRCm39) |
L328Q |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,558,064 (GRCm39) |
T225A |
unknown |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,777,356 (GRCm39) |
M1L |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,619,745 (GRCm39) |
D1432G |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,963,380 (GRCm39) |
N988I |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,677,649 (GRCm39) |
E773G |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,761,636 (GRCm39) |
M146K |
probably damaging |
Het |
| Ptx4 |
G |
A |
17: 25,342,152 (GRCm39) |
R209Q |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,291,634 (GRCm39) |
T340A |
probably damaging |
Het |
| St8sia1 |
T |
C |
6: 142,909,434 (GRCm39) |
K21E |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,684,686 (GRCm39) |
D581G |
probably benign |
Het |
| Sumo2 |
G |
A |
11: 115,425,486 (GRCm39) |
|
probably benign |
Het |
| Supt5 |
G |
A |
7: 28,015,508 (GRCm39) |
P910S |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,743 (GRCm39) |
Q158R |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,915,633 (GRCm39) |
H1968L |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,421,861 (GRCm39) |
Y220H |
probably damaging |
Het |
| Trp73 |
C |
T |
4: 154,189,295 (GRCm39) |
E60K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,617,413 (GRCm39) |
Y8026H |
probably damaging |
Het |
| Zar1l |
A |
G |
5: 150,441,050 (GRCm39) |
|
probably null |
Het |
| Zfp941 |
G |
A |
7: 140,392,870 (GRCm39) |
|
probably benign |
Het |
| Zp1 |
C |
A |
19: 10,897,918 (GRCm39) |
V8F |
possibly damaging |
Het |
|
| Other mutations in Zfp740 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02165:Zfp740
|
APN |
15 |
102,121,109 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0432:Zfp740
|
UTSW |
15 |
102,121,094 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0659:Zfp740
|
UTSW |
15 |
102,121,094 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0661:Zfp740
|
UTSW |
15 |
102,121,094 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1666:Zfp740
|
UTSW |
15 |
102,116,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Zfp740
|
UTSW |
15 |
102,116,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3983:Zfp740
|
UTSW |
15 |
102,116,678 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4686:Zfp740
|
UTSW |
15 |
102,117,184 (GRCm39) |
unclassified |
probably benign |
|
|
R4991:Zfp740
|
UTSW |
15 |
102,116,714 (GRCm39) |
splice site |
probably null |
|
|
R5213:Zfp740
|
UTSW |
15 |
102,121,082 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5782:Zfp740
|
UTSW |
15 |
102,116,801 (GRCm39) |
unclassified |
probably benign |
|
|
R6088:Zfp740
|
UTSW |
15 |
102,117,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Zfp740
|
UTSW |
15 |
102,117,243 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8526:Zfp740
|
UTSW |
15 |
102,116,726 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGAGAGTATTAGACGTGG -3'
(R):5'- ATGATGAGGTCCCTAAGGCC -3'
Sequencing Primer
(F):5'- CAGAGAGGTTGCATGGCTC -3'
(R):5'- CCTAAGGCCAGAGTTGTGTCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation