Incidental Mutation 'R9556:Zfp719'
| ID |
720753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp719
|
| Ensembl Gene |
ENSMUSG00000030469 |
| Gene Name |
zinc finger protein 719 |
| Synonyms |
C630016O21Rik, mszf6, 9430094P17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43229034-43242659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43239072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 220
(C220Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058104]
[ENSMUST00000205769]
|
| AlphaFold |
Q8BIV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058104
AA Change: C220Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000050968
Gene: ENSMUSG00000030469
AA Change: C220Y
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
49 |
109 |
1.18e-20 |
SMART |
|
ZnF_C2H2
|
285 |
305 |
4.16e1 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
677 |
699 |
1.47e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205769
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
T |
9: 104,197,178 (GRCm39) |
Y183N |
probably damaging |
Het |
| Agtr1a |
A |
T |
13: 30,565,073 (GRCm39) |
N46I |
probably damaging |
Het |
| Aldh1a1 |
T |
C |
19: 20,600,756 (GRCm39) |
V191A |
possibly damaging |
Het |
| Apmap |
A |
C |
2: 150,429,035 (GRCm39) |
M196R |
possibly damaging |
Het |
| Ddb2 |
G |
T |
2: 91,065,202 (GRCm39) |
Y74* |
probably null |
Het |
| Ddx11 |
A |
G |
17: 66,447,207 (GRCm39) |
T436A |
probably benign |
Het |
| Edc4 |
TAGCAGCAGCAGCAGCAGCAGCAGC |
TAGCAGCAGCAGCAGCAGCAGC |
8: 106,615,067 (GRCm39) |
|
probably benign |
Het |
| Eif1ad18 |
G |
A |
12: 88,050,510 (GRCm39) |
G15D |
probably damaging |
Het |
| Ghdc |
A |
T |
11: 100,658,861 (GRCm39) |
C424S |
possibly damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gm7347 |
G |
A |
5: 26,259,996 (GRCm39) |
R185C |
probably benign |
Het |
| Gys2 |
C |
T |
6: 142,374,377 (GRCm39) |
R556H |
probably damaging |
Het |
| Hoxa1 |
ATGGTGGTGGTGGTGGTGGTGGTGGTGG |
ATGGTGGTGGTGGTGGTGGTGGTGG |
6: 52,134,983 (GRCm39) |
|
probably benign |
Het |
| Igsf21 |
A |
C |
4: 139,762,014 (GRCm39) |
D221E |
probably damaging |
Het |
| Izumo3 |
A |
T |
4: 92,035,117 (GRCm39) |
D33E |
possibly damaging |
Het |
| Kcnu1 |
A |
C |
8: 26,348,154 (GRCm39) |
I107L |
probably damaging |
Het |
| Mme |
C |
A |
3: 63,272,225 (GRCm39) |
T608K |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,278,263 (GRCm39) |
I774K |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,569,934 (GRCm39) |
S862P |
unknown |
Het |
| Ncbp2 |
T |
A |
16: 31,775,758 (GRCm39) |
V134D |
probably damaging |
Het |
| Nr5a2 |
A |
T |
1: 136,818,460 (GRCm39) |
H416Q |
possibly damaging |
Het |
| Nsmaf |
A |
T |
4: 6,408,637 (GRCm39) |
M714K |
probably benign |
Het |
| Nusap1 |
A |
G |
2: 119,479,444 (GRCm39) |
N420D |
possibly damaging |
Het |
| Or5b99 |
T |
C |
19: 12,976,938 (GRCm39) |
I196T |
probably benign |
Het |
| Or7e176 |
G |
T |
9: 20,171,651 (GRCm39) |
V172L |
probably benign |
Het |
| Phlpp2 |
A |
G |
8: 110,666,758 (GRCm39) |
T1096A |
probably benign |
Het |
| Ppp1r14a |
A |
G |
7: 28,988,944 (GRCm39) |
E62G |
probably damaging |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,039 (GRCm39) |
V109E |
unknown |
Het |
| Slc26a1 |
T |
C |
5: 108,820,404 (GRCm39) |
N281S |
|
Het |
| Slc35a3 |
T |
A |
3: 116,474,763 (GRCm39) |
I210F |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,201,905 (GRCm39) |
D16E |
probably benign |
Het |
| Tbcd |
G |
A |
11: 121,467,053 (GRCm39) |
A638T |
probably damaging |
Het |
| Tes |
A |
T |
6: 17,096,233 (GRCm39) |
T74S |
probably benign |
Het |
| Ugt2a2 |
G |
A |
5: 87,609,821 (GRCm39) |
T420I |
probably damaging |
Het |
| Washc5 |
T |
C |
15: 59,218,716 (GRCm39) |
T684A |
possibly damaging |
Het |
| Zfp160 |
A |
G |
17: 21,247,031 (GRCm39) |
N527S |
probably benign |
Het |
| Zfp516 |
C |
A |
18: 82,974,965 (GRCm39) |
P388T |
probably benign |
Het |
|
| Other mutations in Zfp719 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01392:Zfp719
|
APN |
7 |
43,240,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01407:Zfp719
|
APN |
7 |
43,233,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01763:Zfp719
|
APN |
7 |
43,233,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03079:Zfp719
|
APN |
7 |
43,240,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Zfp719
|
UTSW |
7 |
43,238,677 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0524:Zfp719
|
UTSW |
7 |
43,238,677 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0542:Zfp719
|
UTSW |
7 |
43,238,677 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0543:Zfp719
|
UTSW |
7 |
43,238,677 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0662:Zfp719
|
UTSW |
7 |
43,233,678 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1390:Zfp719
|
UTSW |
7 |
43,239,867 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2959:Zfp719
|
UTSW |
7 |
43,239,851 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4708:Zfp719
|
UTSW |
7 |
43,239,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Zfp719
|
UTSW |
7 |
43,239,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4710:Zfp719
|
UTSW |
7 |
43,239,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Zfp719
|
UTSW |
7 |
43,240,535 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4729:Zfp719
|
UTSW |
7 |
43,239,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Zfp719
|
UTSW |
7 |
43,240,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Zfp719
|
UTSW |
7 |
43,240,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5949:Zfp719
|
UTSW |
7 |
43,233,541 (GRCm39) |
intron |
probably benign |
|
|
R6063:Zfp719
|
UTSW |
7 |
43,239,050 (GRCm39) |
nonsense |
probably null |
|
|
R6363:Zfp719
|
UTSW |
7 |
43,239,290 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6434:Zfp719
|
UTSW |
7 |
43,240,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6465:Zfp719
|
UTSW |
7 |
43,240,108 (GRCm39) |
nonsense |
probably null |
|
|
R6806:Zfp719
|
UTSW |
7 |
43,235,809 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6925:Zfp719
|
UTSW |
7 |
43,240,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8124:Zfp719
|
UTSW |
7 |
43,239,314 (GRCm39) |
missense |
probably benign |
|
|
R9018:Zfp719
|
UTSW |
7 |
43,233,489 (GRCm39) |
intron |
probably benign |
|
|
R9043:Zfp719
|
UTSW |
7 |
43,239,605 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9484:Zfp719
|
UTSW |
7 |
43,239,581 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9647:Zfp719
|
UTSW |
7 |
43,233,602 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGTGCTTGGGACTATGAAG -3'
(R):5'- AGGTTTTCCCACAGGTGTGAC -3'
Sequencing Primer
(F):5'- TGCTTGGGACTATGAAGAAACTG -3'
(R):5'- GTGTGACAGATAAAAGATGTCTCC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation