Incidental Mutation 'R9390:Zfp729b'
| ID |
710562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp729b
|
| Ensembl Gene |
ENSMUSG00000058093 |
| Gene Name |
zinc finger protein 729b |
| Synonyms |
AA987161 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R9390 (G1)
|
| Quality Score |
152.008 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67737558-67757767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67739182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1028
(S1028T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012873]
[ENSMUST00000138725]
[ENSMUST00000224814]
[ENSMUST00000225627]
|
| AlphaFold |
Q80VN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012873
AA Change: S1028T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000012873
Gene: ENSMUSG00000058093
AA Change: S1028T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.63e-28 |
SMART |
|
ZnF_C2H2
|
132 |
154 |
3.58e-2 |
SMART |
|
PHD
|
133 |
194 |
1e1 |
SMART |
|
ZnF_C2H2
|
160 |
182 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
3.16e-3 |
SMART |
|
PHD
|
217 |
278 |
7.77e0 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
1.79e-2 |
SMART |
|
PHD
|
301 |
362 |
1.65e1 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
1.28e-3 |
SMART |
|
PHD
|
441 |
502 |
4.46e0 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
4.47e-3 |
SMART |
|
PHD
|
525 |
586 |
5.77e0 |
SMART |
|
ZnF_C2H2
|
552 |
574 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
580 |
602 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
608 |
630 |
5.5e-3 |
SMART |
|
PHD
|
609 |
670 |
1.52e1 |
SMART |
|
ZnF_C2H2
|
636 |
658 |
6.99e-5 |
SMART |
|
ZnF_C2H2
|
664 |
686 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
720 |
742 |
3.63e-3 |
SMART |
|
PHD
|
721 |
782 |
2.67e0 |
SMART |
|
ZnF_C2H2
|
748 |
770 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
776 |
798 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
804 |
826 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
832 |
854 |
1.47e-3 |
SMART |
|
PHD
|
833 |
894 |
4.93e0 |
SMART |
|
ZnF_C2H2
|
860 |
882 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
888 |
910 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
916 |
938 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
944 |
966 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
972 |
994 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
1000 |
1022 |
1.69e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138725
|
| SMART Domains |
Protein: ENSMUSP00000115783
Gene: ENSMUSG00000058093
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
15 |
75 |
1.63e-28 |
SMART |
|
ZnF_C2H2
|
142 |
164 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
170 |
192 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
198 |
220 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
226 |
248 |
3.16e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225627
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
T |
16: 90,853,096 (GRCm39) |
S13R |
probably benign |
Het |
| Amn1 |
A |
T |
6: 149,084,983 (GRCm39) |
D32E |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,635,927 (GRCm39) |
D108G |
probably damaging |
Het |
| C1rb |
T |
C |
6: 124,557,336 (GRCm39) |
L491P |
probably damaging |
Het |
| Cep120 |
G |
A |
18: 53,839,984 (GRCm39) |
R759* |
probably null |
Het |
| Chmp6 |
C |
T |
11: 119,806,288 (GRCm39) |
T38M |
possibly damaging |
Het |
| Comtd1 |
A |
G |
14: 21,898,867 (GRCm39) |
F25S |
possibly damaging |
Het |
| Dthd1 |
G |
A |
5: 62,975,904 (GRCm39) |
G193R |
possibly damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,474,330 (GRCm39) |
S362R |
probably damaging |
Het |
| Ecm2 |
A |
G |
13: 49,683,792 (GRCm39) |
D590G |
probably benign |
Het |
| Exd1 |
A |
T |
2: 119,354,180 (GRCm39) |
W293R |
probably damaging |
Het |
| Fam110a |
C |
T |
2: 151,812,116 (GRCm39) |
R218Q |
probably benign |
Het |
| Fga |
A |
T |
3: 82,940,610 (GRCm39) |
N755Y |
probably damaging |
Het |
| Fstl4 |
C |
A |
11: 52,891,102 (GRCm39) |
T80K |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,208,783 (GRCm39) |
K109E |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,190,607 (GRCm39) |
V1009A |
probably null |
Het |
| Herc6 |
C |
T |
6: 57,602,955 (GRCm39) |
Q545* |
probably null |
Het |
| Hpd |
T |
A |
5: 123,318,794 (GRCm39) |
|
probably null |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,497,522 (GRCm39) |
V114A |
probably damaging |
Het |
| Ints14 |
A |
G |
9: 64,891,314 (GRCm39) |
T432A |
probably benign |
Het |
| Isoc1 |
G |
A |
18: 58,804,350 (GRCm39) |
R126H |
probably damaging |
Het |
| Klb |
G |
T |
5: 65,533,044 (GRCm39) |
R451L |
possibly damaging |
Het |
| Lrtm2 |
C |
T |
6: 119,297,948 (GRCm39) |
C31Y |
probably benign |
Het |
| Mga |
C |
T |
2: 119,794,332 (GRCm39) |
S2672F |
probably damaging |
Het |
| Mkrn3 |
T |
C |
7: 62,069,288 (GRCm39) |
I168V |
probably benign |
Het |
| Mlph |
C |
T |
1: 90,867,088 (GRCm39) |
T370I |
probably benign |
Het |
| Naaladl1 |
A |
T |
19: 6,162,725 (GRCm39) |
I478F |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,065,157 (GRCm39) |
H6251Q |
probably benign |
Het |
| Nom1 |
C |
T |
5: 29,639,766 (GRCm39) |
R31C |
probably benign |
Het |
| Nup153 |
A |
C |
13: 46,840,642 (GRCm39) |
F989V |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,220,777 (GRCm39) |
|
probably null |
Het |
| Or4c12 |
T |
C |
2: 89,773,569 (GRCm39) |
K297E |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Or6c210 |
A |
G |
10: 129,495,938 (GRCm39) |
T88A |
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pcare |
T |
C |
17: 72,057,983 (GRCm39) |
T565A |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,781 (GRCm39) |
V697A |
possibly damaging |
Het |
| Pds5a |
G |
T |
5: 65,823,600 (GRCm39) |
Q64K |
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,953,810 (GRCm39) |
F353L |
probably damaging |
Het |
| Pus10 |
G |
A |
11: 23,656,937 (GRCm39) |
C221Y |
probably damaging |
Het |
| Qrfp |
A |
G |
2: 31,698,749 (GRCm39) |
V61A |
possibly damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,865,932 (GRCm39) |
I393M |
probably benign |
Het |
| Sh2d5 |
T |
G |
4: 137,985,481 (GRCm39) |
S310A |
probably benign |
Het |
| Shisa9 |
A |
G |
16: 12,085,408 (GRCm39) |
E339G |
possibly damaging |
Het |
| Slc26a10 |
C |
T |
10: 127,009,239 (GRCm39) |
E641K |
probably benign |
Het |
| Slc5a6 |
A |
G |
5: 31,197,803 (GRCm39) |
V302A |
possibly damaging |
Het |
| Tdrd7 |
T |
A |
4: 46,005,416 (GRCm39) |
D407E |
probably damaging |
Het |
| Trp53 |
A |
T |
11: 69,478,394 (GRCm39) |
Q101L |
probably benign |
Het |
| Tsc2 |
T |
A |
17: 24,823,824 (GRCm39) |
N994Y |
probably damaging |
Het |
| Ttc16 |
T |
G |
2: 32,657,195 (GRCm39) |
K577Q |
possibly damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,462,535 (GRCm39) |
I2V |
probably benign |
Het |
| Vmn2r83 |
G |
T |
10: 79,317,322 (GRCm39) |
E522* |
probably null |
Het |
| Wdr48 |
T |
A |
9: 119,746,245 (GRCm39) |
F450L |
probably benign |
Het |
| Wnt9a |
G |
A |
11: 59,218,592 (GRCm39) |
E100K |
possibly damaging |
Het |
|
| Other mutations in Zfp729b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02083:Zfp729b
|
APN |
13 |
67,743,349 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02852:Zfp729b
|
APN |
13 |
67,740,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4449001:Zfp729b
|
UTSW |
13 |
67,739,542 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0238:Zfp729b
|
UTSW |
13 |
67,740,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0238:Zfp729b
|
UTSW |
13 |
67,740,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0450:Zfp729b
|
UTSW |
13 |
67,739,253 (GRCm39) |
missense |
probably benign |
|
|
R0510:Zfp729b
|
UTSW |
13 |
67,739,253 (GRCm39) |
missense |
probably benign |
|
|
R1122:Zfp729b
|
UTSW |
13 |
67,743,403 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1400:Zfp729b
|
UTSW |
13 |
67,740,913 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1915:Zfp729b
|
UTSW |
13 |
67,741,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Zfp729b
|
UTSW |
13 |
67,743,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2270:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2344:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2377:Zfp729b
|
UTSW |
13 |
67,739,820 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2930:Zfp729b
|
UTSW |
13 |
67,739,973 (GRCm39) |
missense |
probably benign |
|
|
R3053:Zfp729b
|
UTSW |
13 |
67,741,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Zfp729b
|
UTSW |
13 |
67,739,283 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4118:Zfp729b
|
UTSW |
13 |
67,740,829 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4947:Zfp729b
|
UTSW |
13 |
67,744,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Zfp729b
|
UTSW |
13 |
67,739,563 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5511:Zfp729b
|
UTSW |
13 |
67,740,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Zfp729b
|
UTSW |
13 |
67,739,140 (GRCm39) |
missense |
probably benign |
|
|
R5908:Zfp729b
|
UTSW |
13 |
67,739,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5977:Zfp729b
|
UTSW |
13 |
67,739,740 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5996:Zfp729b
|
UTSW |
13 |
67,741,977 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7086:Zfp729b
|
UTSW |
13 |
67,741,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7146:Zfp729b
|
UTSW |
13 |
67,741,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7217:Zfp729b
|
UTSW |
13 |
67,743,367 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7332:Zfp729b
|
UTSW |
13 |
67,757,755 (GRCm39) |
splice site |
probably null |
|
|
R7472:Zfp729b
|
UTSW |
13 |
67,742,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7615:Zfp729b
|
UTSW |
13 |
67,739,617 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7639:Zfp729b
|
UTSW |
13 |
67,739,971 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7652:Zfp729b
|
UTSW |
13 |
67,739,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7738:Zfp729b
|
UTSW |
13 |
67,740,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8137:Zfp729b
|
UTSW |
13 |
67,740,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8381:Zfp729b
|
UTSW |
13 |
67,739,617 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8402:Zfp729b
|
UTSW |
13 |
67,740,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8941:Zfp729b
|
UTSW |
13 |
67,741,218 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9014:Zfp729b
|
UTSW |
13 |
67,740,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Zfp729b
|
UTSW |
13 |
67,740,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9168:Zfp729b
|
UTSW |
13 |
67,741,942 (GRCm39) |
nonsense |
probably null |
|
|
R9270:Zfp729b
|
UTSW |
13 |
67,740,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:Zfp729b
|
UTSW |
13 |
67,742,014 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9442:Zfp729b
|
UTSW |
13 |
67,739,337 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9620:Zfp729b
|
UTSW |
13 |
67,739,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Zfp729b
|
UTSW |
13 |
67,740,578 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0028:Zfp729b
|
UTSW |
13 |
67,740,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Zfp729b
|
UTSW |
13 |
67,741,189 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCGTCTACATACTTCAGAC -3'
(R):5'- GTAGCAAGACCTTCCATTATCCATC -3'
Sequencing Primer
(F):5'- CTTTTGGTACCAAGCAATATACCATC -3'
(R):5'- ATGTGGTAAGGCCTTCCATTATC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation