Incidental Mutation 'R7086:Zfp729b'
| ID |
549914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp729b
|
| Ensembl Gene |
ENSMUSG00000058093 |
| Gene Name |
zinc finger protein 729b |
| Synonyms |
AA987161 |
| MMRRC Submission |
045180-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R7086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67737558-67757767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67741056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 403
(K403R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012873]
[ENSMUST00000138725]
[ENSMUST00000224814]
[ENSMUST00000225627]
|
| AlphaFold |
Q80VN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012873
AA Change: K403R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000012873
Gene: ENSMUSG00000058093
AA Change: K403R
| 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 damaging
Transcript: ENSMUST00000224814
AA Change: K413R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225627
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,068,635 (GRCm39) |
H28R |
probably damaging |
Het |
| Adgre4 |
T |
C |
17: 56,127,649 (GRCm39) |
I563T |
probably benign |
Het |
| Ankub1 |
A |
T |
3: 57,597,746 (GRCm39) |
C75S |
probably damaging |
Het |
| Antxrl |
G |
A |
14: 33,787,873 (GRCm39) |
V299I |
probably benign |
Het |
| Arfgef2 |
T |
A |
2: 166,718,536 (GRCm39) |
C1442S |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,169,881 (GRCm39) |
D399G |
possibly damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,554,414 (GRCm39) |
Y666N |
probably damaging |
Het |
| Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
| Cfap91 |
A |
T |
16: 38,127,219 (GRCm39) |
F512L |
possibly damaging |
Het |
| Chrng |
C |
A |
1: 87,138,735 (GRCm39) |
R455S |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,429,402 (GRCm39) |
H151R |
probably benign |
Het |
| Cluh |
T |
A |
11: 74,558,166 (GRCm39) |
H1155Q |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,946,773 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
G |
A |
17: 29,378,051 (GRCm39) |
P576L |
unknown |
Het |
| Crocc |
C |
A |
4: 140,774,368 (GRCm39) |
V144L |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,324,669 (GRCm39) |
V2781A |
probably damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,355 (GRCm39) |
F326L |
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,395,333 (GRCm39) |
|
probably null |
Het |
| Dennd2b |
A |
G |
7: 109,124,781 (GRCm39) |
I1083T |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,789,285 (GRCm39) |
R3303G |
probably benign |
Het |
| Dnhd1 |
G |
T |
7: 105,357,739 (GRCm39) |
R3191S |
probably benign |
Het |
| Fgfbp3 |
T |
G |
19: 36,896,103 (GRCm39) |
S172R |
possibly damaging |
Het |
| Gpr158 |
G |
A |
2: 21,831,386 (GRCm39) |
V829I |
probably benign |
Het |
| Gtse1 |
A |
G |
15: 85,759,750 (GRCm39) |
D647G |
probably damaging |
Het |
| H2-Q7 |
T |
A |
17: 35,658,461 (GRCm39) |
V33E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,326,877 (GRCm39) |
T4739A |
possibly damaging |
Het |
| Kcnip1 |
G |
T |
11: 33,584,629 (GRCm39) |
P175T |
probably damaging |
Het |
| Klhl10 |
T |
C |
11: 100,347,768 (GRCm39) |
V608A |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,275,664 (GRCm39) |
Y80H |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,956,988 (GRCm39) |
|
probably null |
Het |
| Lst1 |
G |
A |
17: 35,404,262 (GRCm39) |
H59Y |
probably damaging |
Het |
| Mphosph8 |
G |
C |
14: 56,905,980 (GRCm39) |
V58L |
possibly damaging |
Het |
| Mpnd |
C |
A |
17: 56,316,457 (GRCm39) |
S45R |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,183,453 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
A |
G |
7: 140,046,341 (GRCm39) |
T76A |
possibly damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,594 (GRCm39) |
I107V |
probably benign |
Het |
| Phox2a |
A |
G |
7: 101,467,718 (GRCm39) |
Y5C |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,704,317 (GRCm39) |
S540P |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,849,767 (GRCm39) |
M1133V |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,667,297 (GRCm39) |
M1126V |
probably benign |
Het |
| Ppm1l |
A |
G |
3: 69,225,186 (GRCm39) |
Y96C |
probably damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,368,109 (GRCm39) |
T234A |
probably benign |
Het |
| R3hcc1l |
T |
C |
19: 42,570,409 (GRCm39) |
V668A |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,993,353 (GRCm39) |
S712P |
probably benign |
Het |
| Rcc2 |
T |
C |
4: 140,435,280 (GRCm39) |
C100R |
probably benign |
Het |
| Recql4 |
C |
A |
15: 76,589,753 (GRCm39) |
G764V |
unknown |
Het |
| Rlbp1 |
A |
G |
7: 79,029,813 (GRCm39) |
I140T |
possibly damaging |
Het |
| Samsn1 |
T |
C |
16: 75,667,794 (GRCm39) |
T261A |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,254,924 (GRCm39) |
S65P |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,988,690 (GRCm39) |
V920A |
probably benign |
Het |
| Spata31 |
T |
A |
13: 65,070,043 (GRCm39) |
S730R |
probably benign |
Het |
| Spta1 |
C |
T |
1: 174,027,050 (GRCm39) |
A841V |
probably damaging |
Het |
| Tnfaip1 |
T |
C |
11: 78,416,265 (GRCm39) |
S273G |
probably benign |
Het |
| Vezf1 |
T |
C |
11: 87,969,364 (GRCm39) |
V371A |
probably benign |
Het |
| Vmn1r67 |
G |
A |
7: 10,181,044 (GRCm39) |
V103I |
possibly damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,333,178 (GRCm39) |
T24K |
probably benign |
Het |
| Wdr43 |
G |
A |
17: 71,923,434 (GRCm39) |
G60D |
probably benign |
Het |
| Xkr4 |
G |
A |
1: 3,287,185 (GRCm39) |
T335I |
probably damaging |
Het |
| Zdhhc23 |
A |
T |
16: 43,791,873 (GRCm39) |
I300N |
probably 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 |
|
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'- GGAAAACAGAACGCCTTTCC -3'
(R):5'- GCCTTCCATTATCCATCAAGACT -3'
Sequencing Primer
(F):5'- CACATACTTCACACTTGTATGGC -3'
(R):5'- AAGGCTTTCGATTATCCCTCAAGAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation