Incidental Mutation 'R0661:Zfp740'
| ID |
61857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp740
|
| Ensembl Gene |
ENSMUSG00000046897 |
| Gene Name |
zinc finger protein 740 |
| Synonyms |
1110034O07Rik |
| MMRRC Submission |
038846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R0661 (G1)
|
| Quality Score |
126 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102112080-102124045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102121094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 136
(T136A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001327]
[ENSMUST00000118729]
[ENSMUST00000119168]
[ENSMUST00000119800]
[ENSMUST00000121206]
[ENSMUST00000133986]
[ENSMUST00000141465]
[ENSMUST00000139960]
[ENSMUST00000230867]
[ENSMUST00000229886]
|
| AlphaFold |
Q6NZQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001327
|
| SMART Domains |
Protein: ENSMUSP00000001327
Gene: ENSMUSG00000001281
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PSI
|
44 |
92 |
6.35e-6 |
SMART |
|
INB
|
50 |
476 |
2.82e-273 |
SMART |
|
VWA
|
151 |
383 |
7.52e-2 |
SMART |
|
low complexity region
|
537 |
557 |
N/A |
INTRINSIC |
|
Pfam:EGF_2
|
605 |
635 |
2.6e-7 |
PFAM |
|
Integrin_B_tail
|
645 |
721 |
4.22e-18 |
SMART |
|
low complexity region
|
732 |
744 |
N/A |
INTRINSIC |
|
Integrin_b_cyt
|
746 |
792 |
7.82e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118729
AA Change: T161A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000112985
Gene: ENSMUSG00000046897
AA Change: T161A
| 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 benign
Transcript: ENSMUST00000119800
AA Change: T173A
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113770
Gene: ENSMUSG00000046897
AA Change: T173A
| 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: ENSMUST00000141465
|
| 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 |
possibly damaging
Transcript: ENSMUST00000230867
AA Change: T136A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229440
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230550
|
| Meta Mutation Damage Score |
0.0582 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1b |
T |
A |
3: 20,370,163 (GRCm39) |
T148S |
possibly damaging |
Het |
| Anks3 |
A |
G |
16: 4,766,198 (GRCm39) |
F124L |
probably damaging |
Het |
| Ar |
T |
A |
X: 97,194,171 (GRCm39) |
Y262N |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,001,189 (GRCm39) |
I749N |
possibly damaging |
Het |
| C1ra |
T |
A |
6: 124,499,336 (GRCm39) |
H507Q |
probably benign |
Het |
| Cdk9 |
G |
A |
2: 32,599,832 (GRCm39) |
T135I |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,840,215 (GRCm39) |
T1088A |
unknown |
Het |
| Cpne2 |
T |
C |
8: 95,282,667 (GRCm39) |
I283T |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,918,779 (GRCm39) |
L451P |
probably damaging |
Het |
| Dhx57 |
C |
T |
17: 80,576,293 (GRCm39) |
C599Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,057 (GRCm39) |
N379Y |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,816,513 (GRCm39) |
D4082G |
possibly damaging |
Het |
| Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
| Heyl |
G |
T |
4: 123,139,824 (GRCm39) |
V128F |
probably damaging |
Het |
| Hoxd12 |
A |
G |
2: 74,506,236 (GRCm39) |
E216G |
probably damaging |
Het |
| Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,421,861 (GRCm39) |
R831H |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,671,219 (GRCm39) |
V2000A |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
| Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,068 (GRCm39) |
L46P |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Pcdh18 |
A |
C |
3: 49,707,767 (GRCm39) |
S902R |
possibly damaging |
Het |
| Prdm15 |
A |
T |
16: 97,630,882 (GRCm39) |
V190E |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,314,555 (GRCm39) |
S1758R |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,863,774 (GRCm39) |
V738A |
probably benign |
Het |
| Rtl5 |
T |
C |
X: 101,114,056 (GRCm39) |
H138R |
possibly damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
| Slf1 |
A |
G |
13: 77,231,715 (GRCm39) |
W555R |
probably benign |
Het |
| Spx |
A |
G |
6: 142,359,565 (GRCm39) |
S5G |
possibly damaging |
Het |
| Tcp1 |
T |
C |
17: 13,142,200 (GRCm39) |
V398A |
probably benign |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Tsbp1 |
A |
T |
17: 34,678,887 (GRCm39) |
I217F |
possibly damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,432,270 (GRCm39) |
M1K |
probably null |
Het |
| Usf1 |
G |
A |
1: 171,245,067 (GRCm39) |
R196Q |
probably damaging |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
| Yme1l1 |
T |
A |
2: 23,081,054 (GRCm39) |
M442K |
probably damaging |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably 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 |
|
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 |
|
|
R5170:Zfp740
|
UTSW |
15 |
102,117,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACACAGTGTATGTCCCCTCTGAGAC -3'
(R):5'- TTTAGCTGCCAGTTCCAGTCCAAG -3'
Sequencing Primer
(F):5'- TATGTCCCCTCTGAGACAGGAAC -3'
(R):5'- TGGGATACTCATAGCCTCAGACTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation