Incidental Mutation 'R0450:Zfp729b'
| ID |
39631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp729b
|
| Ensembl Gene |
ENSMUSG00000058093 |
| Gene Name |
zinc finger protein 729b |
| Synonyms |
AA987161 |
| MMRRC Submission |
038650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R0450 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67737558-67757767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67739253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1004
(V1004E)
|
| 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: V1004E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000012873
Gene: ENSMUSG00000058093
AA Change: V1004E
| 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 |
noncoding transcript
Transcript: ENSMUST00000133177
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000223599
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225627
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
G |
A |
2: 127,722,423 (GRCm39) |
|
probably null |
Het |
| AI606181 |
A |
C |
19: 41,582,170 (GRCm39) |
K113N |
unknown |
Het |
| Ankrd11 |
T |
C |
8: 123,618,914 (GRCm39) |
D1646G |
possibly damaging |
Het |
| Ap2m1 |
T |
A |
16: 20,360,990 (GRCm39) |
I334N |
possibly damaging |
Het |
| Arih2 |
T |
A |
9: 108,482,291 (GRCm39) |
H490L |
possibly damaging |
Het |
| Ccdc168 |
T |
A |
1: 44,100,257 (GRCm39) |
K280N |
possibly damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,802,633 (GRCm39) |
Y610C |
probably damaging |
Het |
| Cdkal1 |
C |
A |
13: 29,875,579 (GRCm39) |
|
probably null |
Het |
| Cep76 |
A |
T |
18: 67,767,850 (GRCm39) |
N227K |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,619,112 (GRCm39) |
Y676N |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,255,797 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
A |
T |
9: 105,957,746 (GRCm39) |
V26D |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,806,537 (GRCm39) |
V446A |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,606,378 (GRCm39) |
Q2483K |
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,652,679 (GRCm39) |
D759E |
probably damaging |
Het |
| Etfbkmt |
C |
T |
6: 149,052,082 (GRCm39) |
R96W |
probably benign |
Het |
| Fam83a |
C |
A |
15: 57,873,322 (GRCm39) |
Q384K |
probably benign |
Het |
| Glipr1l2 |
A |
G |
10: 111,928,477 (GRCm39) |
D124G |
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,126,402 (GRCm39) |
D326G |
probably benign |
Het |
| Hnrnph3 |
T |
A |
10: 62,853,994 (GRCm39) |
R41S |
probably benign |
Het |
| Hnrnph3 |
T |
A |
10: 62,855,279 (GRCm39) |
D2V |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,319,477 (GRCm39) |
T188A |
possibly damaging |
Het |
| Krt23 |
T |
A |
11: 99,377,608 (GRCm39) |
I133L |
probably damaging |
Het |
| Krt74 |
T |
C |
15: 101,671,751 (GRCm39) |
|
noncoding transcript |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Map1a |
A |
T |
2: 121,136,255 (GRCm39) |
H2357L |
probably benign |
Het |
| Mbl1 |
A |
G |
14: 40,880,706 (GRCm39) |
N198S |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,047,337 (GRCm39) |
D233G |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,517,700 (GRCm39) |
K45E |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,738,619 (GRCm39) |
N3524S |
probably benign |
Het |
| Mospd3 |
A |
G |
5: 137,595,294 (GRCm39) |
L233P |
probably damaging |
Het |
| Msto1 |
A |
G |
3: 88,818,848 (GRCm39) |
L269P |
probably benign |
Het |
| Or4a39 |
A |
T |
2: 89,237,135 (GRCm39) |
M96K |
probably damaging |
Het |
| Or5p5 |
T |
C |
7: 107,413,895 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or5w15 |
A |
G |
2: 87,567,825 (GRCm39) |
V281A |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,561 (GRCm39) |
Y102C |
probably benign |
Het |
| Or8g27 |
G |
A |
9: 39,129,024 (GRCm39) |
V124I |
possibly damaging |
Het |
| Parp2 |
T |
A |
14: 51,057,130 (GRCm39) |
Y361N |
probably damaging |
Het |
| Pcf11 |
G |
A |
7: 92,307,039 (GRCm39) |
P1043L |
probably damaging |
Het |
| Phf24 |
G |
T |
4: 42,933,761 (GRCm39) |
V48L |
possibly damaging |
Het |
| Pkn1 |
C |
A |
8: 84,398,953 (GRCm39) |
C678F |
probably damaging |
Het |
| Plcl2 |
T |
C |
17: 50,915,010 (GRCm39) |
L673P |
probably damaging |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,617 (GRCm39) |
F51Y |
possibly damaging |
Het |
| Rem2 |
T |
C |
14: 54,713,754 (GRCm39) |
|
probably benign |
Het |
| Smpdl3b |
A |
G |
4: 132,472,449 (GRCm39) |
V108A |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,001,781 (GRCm39) |
T101A |
probably benign |
Het |
| Stk11 |
T |
C |
10: 79,961,920 (GRCm39) |
V47A |
probably damaging |
Het |
| Tmpo |
A |
C |
10: 90,998,958 (GRCm39) |
I276M |
probably benign |
Het |
| Trim55 |
G |
T |
3: 19,725,256 (GRCm39) |
V258L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,560,756 (GRCm39) |
V29215A |
probably damaging |
Het |
| Ubr4 |
T |
G |
4: 139,157,534 (GRCm39) |
S2364A |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,045,329 (GRCm39) |
|
probably null |
Het |
| Upb1 |
T |
C |
10: 75,250,917 (GRCm39) |
|
probably null |
Het |
| Usp47 |
T |
C |
7: 111,655,787 (GRCm39) |
S155P |
possibly damaging |
Het |
| Zfp628 |
A |
T |
7: 4,922,732 (GRCm39) |
Q318L |
probably benign |
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 |
|
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 |
|
R9390:Zfp729b
|
UTSW |
13 |
67,739,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCAGACTACTACTGTTTCTCTCCTGTGTG -3'
(R):5'- AGCAAGACCTTCCATTATCCATCATTACTTTC -3'
Sequencing Primer
(F):5'- ACTGTTTCTCTCCTGTGTGAATTTC -3'
(R):5'- ccttccattatccttcaaaactttcc -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation