Incidental Mutation 'R1400:Zfp729b'
ID |
160345 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp729b
|
Ensembl Gene |
ENSMUSG00000058093 |
Gene Name |
zinc finger protein 729b |
Synonyms |
AA987161 |
MMRRC Submission |
039462-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R1400 (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 G
at 67740913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 451
(Y451H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000012873
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012873]
[ENSMUST00000138725]
[ENSMUST00000224814]
[ENSMUST00000225627]
|
AlphaFold |
Q80VN4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000012873
AA Change: Y451H
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000012873 Gene: ENSMUSG00000058093 AA Change: Y451H
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
AA Change: Y461H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225627
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130008F23Rik |
T |
C |
17: 41,191,195 (GRCm39) |
E78G |
probably damaging |
Het |
Acsf2 |
T |
C |
11: 94,461,142 (GRCm39) |
I345V |
probably benign |
Het |
Akap11 |
T |
A |
14: 78,751,402 (GRCm39) |
K328N |
probably damaging |
Het |
Aoc1 |
T |
A |
6: 48,883,217 (GRCm39) |
Y364* |
probably null |
Het |
Aoc1 |
A |
T |
6: 48,883,645 (GRCm39) |
Q507L |
probably benign |
Het |
Atp6v1c2 |
T |
C |
12: 17,339,131 (GRCm39) |
T207A |
probably benign |
Het |
Atr |
C |
A |
9: 95,744,901 (GRCm39) |
Q73K |
probably benign |
Het |
Cage1 |
A |
G |
13: 38,216,400 (GRCm39) |
S17P |
possibly damaging |
Het |
Cfap44 |
A |
T |
16: 44,241,575 (GRCm39) |
I649F |
probably benign |
Het |
Cops4 |
A |
G |
5: 100,681,412 (GRCm39) |
K200R |
probably damaging |
Het |
Crygd |
A |
G |
1: 65,102,367 (GRCm39) |
S32P |
probably damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,799,299 (GRCm39) |
I296T |
probably damaging |
Het |
Fads3 |
A |
G |
19: 10,033,664 (GRCm39) |
|
probably null |
Het |
Fbn2 |
T |
C |
18: 58,213,265 (GRCm39) |
E974G |
possibly damaging |
Het |
Gcgr |
A |
G |
11: 120,425,812 (GRCm39) |
H45R |
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,752,220 (GRCm39) |
I2112T |
probably damaging |
Het |
Gm43302 |
A |
T |
5: 105,422,622 (GRCm39) |
I470N |
probably damaging |
Het |
Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Krt13 |
C |
A |
11: 100,012,110 (GRCm39) |
G71V |
probably damaging |
Het |
Las1l |
T |
C |
X: 94,990,506 (GRCm39) |
T390A |
possibly damaging |
Het |
Lifr |
T |
A |
15: 7,220,346 (GRCm39) |
V992E |
probably benign |
Het |
Mbd5 |
T |
C |
2: 49,164,788 (GRCm39) |
|
probably null |
Het |
Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,350,477 (GRCm39) |
F636S |
probably damaging |
Het |
Necab1 |
T |
C |
4: 14,975,185 (GRCm39) |
D232G |
possibly damaging |
Het |
Nlrp4e |
A |
T |
7: 23,021,085 (GRCm39) |
E524V |
possibly damaging |
Het |
Nxf3 |
T |
A |
X: 134,976,794 (GRCm39) |
T349S |
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or4c12 |
T |
A |
2: 89,773,886 (GRCm39) |
H191L |
possibly damaging |
Het |
Or4n5 |
A |
T |
14: 50,133,148 (GRCm39) |
I37K |
possibly damaging |
Het |
Or7g29 |
A |
G |
9: 19,286,358 (GRCm39) |
V273A |
probably damaging |
Het |
Or9g19 |
T |
C |
2: 85,600,477 (GRCm39) |
C111R |
possibly damaging |
Het |
Plscr1l1 |
G |
T |
9: 92,233,180 (GRCm39) |
C25F |
probably benign |
Het |
Ppm1e |
T |
A |
11: 87,122,592 (GRCm39) |
N455I |
probably damaging |
Het |
Prkag2 |
G |
A |
5: 25,078,916 (GRCm39) |
T158I |
probably damaging |
Het |
Ptpn18 |
T |
C |
1: 34,502,587 (GRCm39) |
|
probably null |
Het |
Rai14 |
T |
G |
15: 10,571,634 (GRCm39) |
K936N |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,035,808 (GRCm39) |
L1077P |
probably damaging |
Het |
Rgn |
C |
A |
X: 20,416,696 (GRCm39) |
Q27K |
probably benign |
Het |
Ryr2 |
C |
T |
13: 11,609,962 (GRCm39) |
S723N |
probably benign |
Het |
Scamp1 |
A |
G |
13: 94,361,455 (GRCm39) |
F142L |
possibly damaging |
Het |
Selenon |
A |
G |
4: 134,278,829 (GRCm39) |
V67A |
probably benign |
Het |
Slc5a5 |
T |
C |
8: 71,342,079 (GRCm39) |
I292V |
possibly damaging |
Het |
Smarca2 |
C |
A |
19: 26,654,140 (GRCm39) |
T775K |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,861,787 (GRCm39) |
V2437I |
possibly damaging |
Het |
Tas2r143 |
C |
T |
6: 42,377,317 (GRCm39) |
A49V |
probably benign |
Het |
Tlr7 |
T |
A |
X: 166,090,845 (GRCm39) |
N214Y |
probably damaging |
Het |
Unc13a |
C |
A |
8: 72,103,865 (GRCm39) |
D856Y |
probably damaging |
Het |
Upp2 |
T |
C |
2: 58,680,118 (GRCm39) |
Y263H |
probably damaging |
Het |
Vill |
T |
C |
9: 118,892,415 (GRCm39) |
S349P |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,785,336 (GRCm39) |
|
probably null |
Het |
Zfp664 |
T |
C |
5: 124,963,217 (GRCm39) |
C204R |
unknown |
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 |
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'- TCCACAAATCTCACAACTGTAGGCTTTT -3'
(R):5'- GCTTTCCGTTCTCTGTCATCACTTTCTAA -3'
Sequencing Primer
(F):5'- agaaagtagtgatgaataatggaagg -3'
(R):5'- tgtagcaatgccttcgtttatc -3'
|
Posted On |
2014-03-14 |