Incidental Mutation 'R5231:Zfp747l1'
ID |
398524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp747l1
|
Ensembl Gene |
ENSMUSG00000030823 |
Gene Name |
zinc finger protein 747 like 1 |
Synonyms |
9130019O22Rik |
MMRRC Submission |
042803-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R5231 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126981432-126986338 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126984586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 172
(Y172C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038195
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049052]
[ENSMUST00000164345]
[ENSMUST00000165495]
|
AlphaFold |
G3X941 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049052
AA Change: Y172C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038195 Gene: ENSMUSG00000030823 AA Change: Y172C
Domain | Start | End | E-Value | Type |
KRAB
|
22 |
82 |
5.44e-25 |
SMART |
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
ZnF_C2H2
|
152 |
174 |
6.88e-4 |
SMART |
ZnF_C2H2
|
180 |
202 |
1.47e-3 |
SMART |
ZnF_C2H2
|
208 |
230 |
5.29e-5 |
SMART |
ZnF_C2H2
|
236 |
258 |
4.87e-4 |
SMART |
ZnF_C2H2
|
264 |
286 |
3.69e-4 |
SMART |
ZnF_C2H2
|
292 |
314 |
1.47e-3 |
SMART |
ZnF_C2H2
|
320 |
342 |
5.21e-4 |
SMART |
ZnF_C2H2
|
348 |
370 |
1.45e-2 |
SMART |
ZnF_C2H2
|
376 |
398 |
2.12e-4 |
SMART |
ZnF_C2H2
|
404 |
427 |
1.45e-2 |
SMART |
ZnF_C2H2
|
433 |
455 |
3.69e-4 |
SMART |
ZnF_C2H2
|
461 |
483 |
6.67e-2 |
SMART |
ZnF_C2H2
|
489 |
511 |
1.67e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164345
|
SMART Domains |
Protein: ENSMUSP00000131610 Gene: ENSMUSG00000030823
Domain | Start | End | E-Value | Type |
KRAB
|
22 |
67 |
1.65e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165495
|
SMART Domains |
Protein: ENSMUSP00000126288 Gene: ENSMUSG00000078580
Domain | Start | End | E-Value | Type |
KRAB
|
22 |
82 |
4.09e-29 |
SMART |
ZnF_C2H2
|
168 |
190 |
2.2e-2 |
SMART |
ZnF_C2H2
|
196 |
218 |
4.79e-3 |
SMART |
ZnF_C2H2
|
224 |
246 |
4.3e-5 |
SMART |
ZnF_C2H2
|
252 |
274 |
7.9e-4 |
SMART |
ZnF_C2H2
|
280 |
302 |
9.58e-3 |
SMART |
ZnF_C2H2
|
308 |
331 |
2.36e-2 |
SMART |
ZnF_C2H2
|
337 |
359 |
2.57e-3 |
SMART |
ZnF_C2H2
|
365 |
387 |
1.69e-3 |
SMART |
ZnF_C2H2
|
393 |
415 |
2.2e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat3 |
T |
C |
10: 80,442,260 (GRCm39) |
S33P |
possibly damaging |
Het |
Bche |
G |
A |
3: 73,608,194 (GRCm39) |
P411S |
probably benign |
Het |
Chil3 |
A |
G |
3: 106,063,045 (GRCm39) |
S182P |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,902,730 (GRCm39) |
E1653G |
probably damaging |
Het |
Csk |
G |
T |
9: 57,537,661 (GRCm39) |
H84Q |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,439,842 (GRCm39) |
T3099A |
probably benign |
Het |
Deup1 |
G |
T |
9: 15,486,495 (GRCm39) |
A395E |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,429,716 (GRCm39) |
Y2778C |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,894,474 (GRCm39) |
T2031A |
probably benign |
Het |
Ighv1-53 |
C |
A |
12: 115,122,225 (GRCm39) |
S50I |
probably benign |
Het |
Ighv1-62-3 |
A |
T |
12: 115,424,671 (GRCm39) |
M100K |
possibly damaging |
Het |
Igkv2-109 |
T |
A |
6: 68,279,429 (GRCm39) |
F3I |
probably benign |
Het |
Isl1 |
T |
C |
13: 116,438,193 (GRCm39) |
D296G |
probably benign |
Het |
Klk1b16 |
T |
A |
7: 43,786,771 (GRCm39) |
L10Q |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,520,471 (GRCm39) |
S1880T |
possibly damaging |
Het |
Lhcgr |
T |
A |
17: 89,063,039 (GRCm39) |
N211I |
probably damaging |
Het |
Ltb |
C |
T |
17: 35,414,802 (GRCm39) |
L201F |
probably damaging |
Het |
Mfsd2a |
A |
G |
4: 122,853,094 (GRCm39) |
F64S |
possibly damaging |
Het |
Mmp10 |
T |
C |
9: 7,502,501 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
A |
C |
14: 103,583,650 (GRCm39) |
|
probably null |
Het |
Or1e34 |
C |
A |
11: 73,778,781 (GRCm39) |
C139F |
probably damaging |
Het |
Or52e2 |
A |
T |
7: 102,804,175 (GRCm39) |
F260I |
probably damaging |
Het |
Or5k17 |
T |
C |
16: 58,746,077 (GRCm39) |
I286V |
possibly damaging |
Het |
Or9i14 |
A |
T |
19: 13,792,711 (GRCm39) |
I81N |
probably damaging |
Het |
Peg10 |
C |
T |
6: 4,756,939 (GRCm39) |
|
probably benign |
Het |
Plscr1 |
C |
A |
9: 92,148,784 (GRCm39) |
P208H |
probably damaging |
Het |
Rhot1 |
T |
C |
11: 80,118,160 (GRCm39) |
|
probably null |
Het |
Rpl15-ps6 |
T |
C |
15: 52,341,440 (GRCm39) |
|
noncoding transcript |
Het |
Smarcc2 |
T |
C |
10: 128,297,221 (GRCm39) |
Y38H |
probably damaging |
Het |
Spata31e2 |
T |
A |
1: 26,723,032 (GRCm39) |
H716L |
possibly damaging |
Het |
Stat2 |
T |
C |
10: 128,117,111 (GRCm39) |
|
probably null |
Het |
Trip11 |
T |
C |
12: 101,851,860 (GRCm39) |
K735E |
probably damaging |
Het |
Ttll1 |
T |
A |
15: 83,373,667 (GRCm39) |
|
probably null |
Het |
Vmn2r37 |
C |
A |
7: 9,209,594 (GRCm39) |
L639F |
possibly damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,786,448 (GRCm39) |
Q417L |
possibly damaging |
Het |
Vps8 |
A |
T |
16: 21,395,475 (GRCm39) |
D1255V |
probably damaging |
Het |
Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
|
Other mutations in Zfp747l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00561:Zfp747l1
|
APN |
7 |
126,985,716 (GRCm39) |
unclassified |
probably benign |
|
IGL03102:Zfp747l1
|
APN |
7 |
126,983,951 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03264:Zfp747l1
|
APN |
7 |
126,984,811 (GRCm39) |
unclassified |
probably benign |
|
R1653:Zfp747l1
|
UTSW |
7 |
126,983,652 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1692:Zfp747l1
|
UTSW |
7 |
126,983,652 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2042:Zfp747l1
|
UTSW |
7 |
126,984,641 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2132:Zfp747l1
|
UTSW |
7 |
126,986,107 (GRCm39) |
missense |
probably benign |
|
R3768:Zfp747l1
|
UTSW |
7 |
126,984,035 (GRCm39) |
unclassified |
probably benign |
|
R3769:Zfp747l1
|
UTSW |
7 |
126,984,035 (GRCm39) |
unclassified |
probably benign |
|
R3770:Zfp747l1
|
UTSW |
7 |
126,984,035 (GRCm39) |
unclassified |
probably benign |
|
R4459:Zfp747l1
|
UTSW |
7 |
126,983,917 (GRCm39) |
missense |
probably damaging |
0.98 |
R4461:Zfp747l1
|
UTSW |
7 |
126,983,917 (GRCm39) |
missense |
probably damaging |
0.98 |
R4839:Zfp747l1
|
UTSW |
7 |
126,984,179 (GRCm39) |
missense |
probably benign |
0.32 |
R4903:Zfp747l1
|
UTSW |
7 |
126,984,578 (GRCm39) |
missense |
probably benign |
0.02 |
R5324:Zfp747l1
|
UTSW |
7 |
126,984,079 (GRCm39) |
unclassified |
probably benign |
|
R5735:Zfp747l1
|
UTSW |
7 |
126,984,579 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5808:Zfp747l1
|
UTSW |
7 |
126,984,085 (GRCm39) |
unclassified |
probably benign |
|
R6429:Zfp747l1
|
UTSW |
7 |
126,984,214 (GRCm39) |
unclassified |
probably benign |
|
R6571:Zfp747l1
|
UTSW |
7 |
126,984,310 (GRCm39) |
unclassified |
probably benign |
|
R6655:Zfp747l1
|
UTSW |
7 |
126,983,512 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6806:Zfp747l1
|
UTSW |
7 |
126,985,766 (GRCm39) |
unclassified |
probably benign |
|
R6962:Zfp747l1
|
UTSW |
7 |
126,983,487 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7091:Zfp747l1
|
UTSW |
7 |
126,983,534 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7204:Zfp747l1
|
UTSW |
7 |
126,983,518 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7218:Zfp747l1
|
UTSW |
7 |
126,983,852 (GRCm39) |
missense |
probably benign |
0.32 |
R7570:Zfp747l1
|
UTSW |
7 |
126,984,455 (GRCm39) |
missense |
probably benign |
0.00 |
R7604:Zfp747l1
|
UTSW |
7 |
126,985,707 (GRCm39) |
missense |
unknown |
|
R7661:Zfp747l1
|
UTSW |
7 |
126,984,135 (GRCm39) |
nonsense |
probably null |
|
R7893:Zfp747l1
|
UTSW |
7 |
126,985,716 (GRCm39) |
unclassified |
probably benign |
|
R8323:Zfp747l1
|
UTSW |
7 |
126,983,621 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9172:Zfp747l1
|
UTSW |
7 |
126,984,626 (GRCm39) |
missense |
probably benign |
0.38 |
R9204:Zfp747l1
|
UTSW |
7 |
126,984,332 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGTGTGCCACCAGTTTGG -3'
(R):5'- TCATGGTCTCCCAGCAGATTG -3'
Sequencing Primer
(F):5'- ACCAGTTTGGACCGCTG -3'
(R):5'- GCAGATTGCAGGCACGAG -3'
|
Posted On |
2016-07-06 |