Incidental Mutation 'R8169:Zfc3h1'
ID |
633983 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfc3h1
|
Ensembl Gene |
ENSMUSG00000034163 |
Gene Name |
zinc finger, C3H1-type containing |
Synonyms |
Ccdc131, Psrc2 |
MMRRC Submission |
067595-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
R8169 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
115220864-115268677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115254616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 1403
(N1403K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036044]
|
AlphaFold |
B2RT41 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036044
AA Change: N1403K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044069 Gene: ENSMUSG00000034163 AA Change: N1403K
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
29 |
90 |
N/A |
INTRINSIC |
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
low complexity region
|
143 |
214 |
N/A |
INTRINSIC |
coiled coil region
|
361 |
393 |
N/A |
INTRINSIC |
low complexity region
|
399 |
432 |
N/A |
INTRINSIC |
coiled coil region
|
436 |
491 |
N/A |
INTRINSIC |
low complexity region
|
543 |
556 |
N/A |
INTRINSIC |
low complexity region
|
564 |
583 |
N/A |
INTRINSIC |
low complexity region
|
595 |
619 |
N/A |
INTRINSIC |
low complexity region
|
623 |
636 |
N/A |
INTRINSIC |
low complexity region
|
716 |
729 |
N/A |
INTRINSIC |
low complexity region
|
752 |
763 |
N/A |
INTRINSIC |
coiled coil region
|
826 |
889 |
N/A |
INTRINSIC |
coiled coil region
|
968 |
1000 |
N/A |
INTRINSIC |
low complexity region
|
1001 |
1015 |
N/A |
INTRINSIC |
Pfam:zf-C3H1
|
1187 |
1208 |
1.3e-11 |
PFAM |
HAT
|
1384 |
1416 |
1.11e0 |
SMART |
HAT
|
1418 |
1449 |
4.35e2 |
SMART |
Blast:HAT
|
1495 |
1538 |
2e-9 |
BLAST |
HAT
|
1653 |
1685 |
3.31e1 |
SMART |
HAT
|
1762 |
1797 |
7.03e1 |
SMART |
HAT
|
1922 |
1954 |
1.29e-1 |
SMART |
low complexity region
|
1975 |
1992 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (80/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082I17Rik |
C |
A |
5: 139,349,812 (GRCm39) |
G79V |
probably damaging |
Het |
4930562C15Rik |
T |
A |
16: 4,684,082 (GRCm39) |
Y226N |
probably benign |
Het |
Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
Bach1 |
G |
A |
16: 87,519,390 (GRCm39) |
C560Y |
possibly damaging |
Het |
Capn13 |
T |
A |
17: 73,633,467 (GRCm39) |
|
probably null |
Het |
Casq2 |
G |
T |
3: 102,017,628 (GRCm39) |
A103S |
possibly damaging |
Het |
Cfap100 |
A |
G |
6: 90,394,656 (GRCm39) |
F57S |
|
Het |
Clca3a2 |
A |
T |
3: 144,783,653 (GRCm39) |
L654Q |
probably damaging |
Het |
Cntnap5c |
T |
A |
17: 58,411,765 (GRCm39) |
|
probably null |
Het |
Cplane2 |
A |
G |
4: 140,945,530 (GRCm39) |
H127R |
probably damaging |
Het |
Crtc2 |
G |
C |
3: 90,170,883 (GRCm39) |
G652A |
probably damaging |
Het |
Csnk1g2 |
A |
G |
10: 80,475,636 (GRCm39) |
D401G |
probably damaging |
Het |
Dars1 |
T |
C |
1: 128,304,002 (GRCm39) |
N242D |
probably null |
Het |
Dnah10 |
T |
C |
5: 124,877,946 (GRCm39) |
L2677P |
probably damaging |
Het |
Dnal1 |
G |
A |
12: 84,171,330 (GRCm39) |
A3T |
probably benign |
Het |
Dpep2 |
C |
T |
8: 106,722,849 (GRCm39) |
V60I |
|
Het |
Eeig1 |
T |
C |
2: 32,453,760 (GRCm39) |
I203T |
probably benign |
Het |
Ehmt2 |
T |
A |
17: 35,122,339 (GRCm39) |
I302N |
probably benign |
Het |
Eif3a |
C |
T |
19: 60,750,628 (GRCm39) |
R1309Q |
unknown |
Het |
Eno4 |
T |
A |
19: 58,935,084 (GRCm39) |
Y100N |
probably benign |
Het |
Ephx2 |
A |
T |
14: 66,349,602 (GRCm39) |
|
probably null |
Het |
Fbxw14 |
A |
T |
9: 109,106,284 (GRCm39) |
I251K |
probably benign |
Het |
Fcgbp |
T |
C |
7: 27,784,919 (GRCm39) |
|
probably null |
Het |
Foxm1 |
A |
C |
6: 128,348,671 (GRCm39) |
|
probably null |
Het |
Fscn3 |
T |
A |
6: 28,430,328 (GRCm39) |
I166N |
possibly damaging |
Het |
Gdpd4 |
G |
T |
7: 97,621,335 (GRCm39) |
V193L |
probably benign |
Het |
Gnpat |
T |
G |
8: 125,606,869 (GRCm39) |
C352G |
probably benign |
Het |
H2-Q7 |
T |
A |
17: 35,658,910 (GRCm39) |
Y120* |
probably null |
Het |
Klri1 |
G |
A |
6: 129,694,070 (GRCm39) |
R6C |
probably benign |
Het |
Kmo |
T |
C |
1: 175,476,729 (GRCm39) |
V154A |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,559,685 (GRCm39) |
L1031P |
probably damaging |
Het |
Lrrc14b |
T |
G |
13: 74,511,286 (GRCm39) |
T265P |
possibly damaging |
Het |
Lrrc2 |
C |
T |
9: 110,809,954 (GRCm39) |
T330I |
probably benign |
Het |
Lyn |
T |
A |
4: 3,783,050 (GRCm39) |
S428T |
probably damaging |
Het |
Lypd10 |
T |
A |
7: 24,412,000 (GRCm39) |
M60K |
probably benign |
Het |
Mfsd8 |
T |
A |
3: 40,791,550 (GRCm39) |
M59L |
probably benign |
Het |
Mok |
T |
A |
12: 110,774,799 (GRCm39) |
Q341L |
probably benign |
Het |
Muc21 |
T |
C |
17: 35,932,072 (GRCm39) |
T705A |
unknown |
Het |
Myh3 |
C |
A |
11: 66,979,856 (GRCm39) |
N598K |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nlrp4e |
A |
G |
7: 23,019,931 (GRCm39) |
I139M |
probably benign |
Het |
Or11g25 |
T |
C |
14: 50,723,692 (GRCm39) |
V259A |
probably benign |
Het |
Or3a10 |
T |
A |
11: 73,935,707 (GRCm39) |
Q131L |
possibly damaging |
Het |
Or4b13 |
G |
A |
2: 90,082,442 (GRCm39) |
R297* |
probably null |
Het |
Or51g2 |
A |
G |
7: 102,622,545 (GRCm39) |
L218P |
probably damaging |
Het |
Or52n2b |
A |
T |
7: 104,565,619 (GRCm39) |
Y295N |
possibly damaging |
Het |
Osbpl7 |
G |
A |
11: 96,945,676 (GRCm39) |
S312N |
probably damaging |
Het |
Paxip1 |
A |
G |
5: 27,977,093 (GRCm39) |
L323P |
unknown |
Het |
Pcdh18 |
T |
A |
3: 49,699,684 (GRCm39) |
H926L |
probably damaging |
Het |
Pcm1 |
T |
G |
8: 41,763,153 (GRCm39) |
S1460R |
possibly damaging |
Het |
Pdha2 |
A |
G |
3: 140,917,155 (GRCm39) |
S118P |
possibly damaging |
Het |
Pdss1 |
A |
T |
2: 22,791,824 (GRCm39) |
Y86F |
probably benign |
Het |
Ppargc1a |
A |
T |
5: 51,631,026 (GRCm39) |
D534E |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,102,455 (GRCm39) |
K2538R |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,418,351 (GRCm39) |
I1675N |
probably damaging |
Het |
Rgma |
C |
T |
7: 73,025,630 (GRCm39) |
P3L |
probably benign |
Het |
Ros1 |
A |
G |
10: 51,940,768 (GRCm39) |
|
probably null |
Het |
Sema4g |
C |
T |
19: 44,987,410 (GRCm39) |
R519W |
probably damaging |
Het |
Serpinc1 |
T |
A |
1: 160,820,971 (GRCm39) |
F139L |
probably damaging |
Het |
Slc22a29 |
A |
G |
19: 8,184,696 (GRCm39) |
I198T |
probably damaging |
Het |
Slc4a5 |
T |
C |
6: 83,280,373 (GRCm39) |
V1007A |
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,147,783 (GRCm39) |
Y17C |
possibly damaging |
Het |
Tex261 |
C |
A |
6: 83,751,999 (GRCm39) |
|
probably null |
Het |
Timmdc1 |
T |
A |
16: 38,331,148 (GRCm39) |
T128S |
probably benign |
Het |
Tmem120b |
C |
A |
5: 123,237,999 (GRCm39) |
Y96* |
probably null |
Het |
Tmem196 |
T |
A |
12: 119,982,311 (GRCm39) |
F182I |
possibly damaging |
Het |
Tnxb |
G |
A |
17: 34,918,181 (GRCm39) |
V2365M |
possibly damaging |
Het |
Tph1 |
T |
C |
7: 46,303,233 (GRCm39) |
|
silent |
Het |
Trmt9b |
A |
T |
8: 36,978,857 (GRCm39) |
K153N |
probably damaging |
Het |
Trpc1 |
G |
A |
9: 95,592,323 (GRCm39) |
Q551* |
probably null |
Het |
Tubgcp3 |
T |
C |
8: 12,666,099 (GRCm39) |
N828D |
probably benign |
Het |
Unc13a |
C |
A |
8: 72,108,933 (GRCm39) |
G478W |
probably damaging |
Het |
Usp15 |
T |
A |
10: 122,961,798 (GRCm39) |
T627S |
|
Het |
Vmn1r115 |
A |
T |
7: 20,578,144 (GRCm39) |
I256N |
probably damaging |
Het |
Vmn2r6 |
T |
A |
3: 64,447,310 (GRCm39) |
K585N |
probably benign |
Het |
Vsir |
G |
T |
10: 60,194,047 (GRCm39) |
|
probably null |
Het |
Xirp2 |
A |
G |
2: 67,343,543 (GRCm39) |
D1928G |
probably benign |
Het |
Xylt1 |
A |
G |
7: 117,249,846 (GRCm39) |
Y672C |
probably damaging |
Het |
Yrdc |
A |
G |
4: 124,744,880 (GRCm39) |
S105G |
probably benign |
Het |
Zfp160 |
A |
T |
17: 21,247,298 (GRCm39) |
H616L |
probably damaging |
Het |
Zfp637 |
T |
A |
6: 117,822,252 (GRCm39) |
F127I |
probably damaging |
Het |
Zfp69 |
G |
T |
4: 120,787,731 (GRCm39) |
A528D |
probably damaging |
Het |
Zpr1 |
T |
A |
9: 46,189,645 (GRCm39) |
L342Q |
possibly damaging |
Het |
|
Other mutations in Zfc3h1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00698:Zfc3h1
|
APN |
10 |
115,255,737 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL00793:Zfc3h1
|
APN |
10 |
115,252,779 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01349:Zfc3h1
|
APN |
10 |
115,259,353 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01431:Zfc3h1
|
APN |
10 |
115,259,128 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02273:Zfc3h1
|
APN |
10 |
115,263,004 (GRCm39) |
missense |
probably benign |
|
IGL02382:Zfc3h1
|
APN |
10 |
115,252,781 (GRCm39) |
nonsense |
probably null |
|
IGL02397:Zfc3h1
|
APN |
10 |
115,243,890 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02657:Zfc3h1
|
APN |
10 |
115,247,859 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02826:Zfc3h1
|
APN |
10 |
115,236,809 (GRCm39) |
missense |
probably benign |
0.42 |
Gnatcatcher
|
UTSW |
10 |
115,236,647 (GRCm39) |
missense |
probably benign |
0.39 |
hutton
|
UTSW |
10 |
115,251,153 (GRCm39) |
missense |
probably damaging |
0.96 |
passerine
|
UTSW |
10 |
115,249,916 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0178_Zfc3h1_655
|
UTSW |
10 |
115,242,630 (GRCm39) |
splice site |
probably benign |
|
vireo
|
UTSW |
10 |
115,255,806 (GRCm39) |
missense |
probably benign |
0.01 |
warbler
|
UTSW |
10 |
115,242,388 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4260001:Zfc3h1
|
UTSW |
10 |
115,226,794 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4354001:Zfc3h1
|
UTSW |
10 |
115,262,944 (GRCm39) |
nonsense |
probably null |
|
R0062:Zfc3h1
|
UTSW |
10 |
115,252,658 (GRCm39) |
missense |
probably benign |
0.00 |
R0062:Zfc3h1
|
UTSW |
10 |
115,252,658 (GRCm39) |
missense |
probably benign |
0.00 |
R0067:Zfc3h1
|
UTSW |
10 |
115,259,379 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0067:Zfc3h1
|
UTSW |
10 |
115,259,379 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0104:Zfc3h1
|
UTSW |
10 |
115,251,192 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0178:Zfc3h1
|
UTSW |
10 |
115,242,630 (GRCm39) |
splice site |
probably benign |
|
R0355:Zfc3h1
|
UTSW |
10 |
115,245,018 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0619:Zfc3h1
|
UTSW |
10 |
115,256,715 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0731:Zfc3h1
|
UTSW |
10 |
115,246,537 (GRCm39) |
missense |
probably benign |
0.00 |
R0828:Zfc3h1
|
UTSW |
10 |
115,237,612 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0866:Zfc3h1
|
UTSW |
10 |
115,263,621 (GRCm39) |
missense |
probably benign |
0.00 |
R1196:Zfc3h1
|
UTSW |
10 |
115,247,866 (GRCm39) |
missense |
probably damaging |
0.99 |
R1455:Zfc3h1
|
UTSW |
10 |
115,248,013 (GRCm39) |
missense |
probably benign |
0.11 |
R1515:Zfc3h1
|
UTSW |
10 |
115,252,647 (GRCm39) |
missense |
probably benign |
0.29 |
R1617:Zfc3h1
|
UTSW |
10 |
115,226,827 (GRCm39) |
missense |
probably benign |
0.01 |
R1640:Zfc3h1
|
UTSW |
10 |
115,242,806 (GRCm39) |
splice site |
probably null |
|
R1959:Zfc3h1
|
UTSW |
10 |
115,259,158 (GRCm39) |
missense |
probably benign |
0.34 |
R2039:Zfc3h1
|
UTSW |
10 |
115,242,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R3430:Zfc3h1
|
UTSW |
10 |
115,246,428 (GRCm39) |
splice site |
probably benign |
|
R3691:Zfc3h1
|
UTSW |
10 |
115,256,595 (GRCm39) |
missense |
probably benign |
|
R3909:Zfc3h1
|
UTSW |
10 |
115,255,806 (GRCm39) |
missense |
probably benign |
0.01 |
R4235:Zfc3h1
|
UTSW |
10 |
115,254,704 (GRCm39) |
missense |
probably benign |
0.32 |
R4684:Zfc3h1
|
UTSW |
10 |
115,259,290 (GRCm39) |
missense |
probably benign |
0.03 |
R4816:Zfc3h1
|
UTSW |
10 |
115,251,599 (GRCm39) |
missense |
probably benign |
0.16 |
R4881:Zfc3h1
|
UTSW |
10 |
115,236,647 (GRCm39) |
missense |
probably benign |
0.39 |
R4883:Zfc3h1
|
UTSW |
10 |
115,246,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R5038:Zfc3h1
|
UTSW |
10 |
115,240,116 (GRCm39) |
missense |
probably benign |
0.16 |
R5068:Zfc3h1
|
UTSW |
10 |
115,254,688 (GRCm39) |
nonsense |
probably null |
|
R5069:Zfc3h1
|
UTSW |
10 |
115,254,688 (GRCm39) |
nonsense |
probably null |
|
R5070:Zfc3h1
|
UTSW |
10 |
115,254,688 (GRCm39) |
nonsense |
probably null |
|
R5155:Zfc3h1
|
UTSW |
10 |
115,248,026 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5190:Zfc3h1
|
UTSW |
10 |
115,254,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R5499:Zfc3h1
|
UTSW |
10 |
115,246,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R5932:Zfc3h1
|
UTSW |
10 |
115,236,815 (GRCm39) |
missense |
probably benign |
0.44 |
R5935:Zfc3h1
|
UTSW |
10 |
115,267,262 (GRCm39) |
intron |
probably benign |
|
R6165:Zfc3h1
|
UTSW |
10 |
115,256,574 (GRCm39) |
missense |
probably benign |
0.30 |
R6182:Zfc3h1
|
UTSW |
10 |
115,226,764 (GRCm39) |
missense |
probably benign |
0.00 |
R6262:Zfc3h1
|
UTSW |
10 |
115,249,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R6382:Zfc3h1
|
UTSW |
10 |
115,243,813 (GRCm39) |
missense |
probably benign |
0.06 |
R6392:Zfc3h1
|
UTSW |
10 |
115,237,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R6539:Zfc3h1
|
UTSW |
10 |
115,247,907 (GRCm39) |
missense |
probably benign |
0.26 |
R6723:Zfc3h1
|
UTSW |
10 |
115,256,638 (GRCm39) |
missense |
probably benign |
0.34 |
R7339:Zfc3h1
|
UTSW |
10 |
115,239,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R7381:Zfc3h1
|
UTSW |
10 |
115,260,535 (GRCm39) |
missense |
probably benign |
|
R7404:Zfc3h1
|
UTSW |
10 |
115,251,153 (GRCm39) |
missense |
probably damaging |
0.96 |
R7667:Zfc3h1
|
UTSW |
10 |
115,246,606 (GRCm39) |
nonsense |
probably null |
|
R7748:Zfc3h1
|
UTSW |
10 |
115,236,720 (GRCm39) |
missense |
probably benign |
0.27 |
R7910:Zfc3h1
|
UTSW |
10 |
115,256,588 (GRCm39) |
nonsense |
probably null |
|
R7914:Zfc3h1
|
UTSW |
10 |
115,239,062 (GRCm39) |
splice site |
probably null |
|
R8023:Zfc3h1
|
UTSW |
10 |
115,256,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R8358:Zfc3h1
|
UTSW |
10 |
115,240,198 (GRCm39) |
missense |
probably benign |
0.13 |
R8746:Zfc3h1
|
UTSW |
10 |
115,243,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R8803:Zfc3h1
|
UTSW |
10 |
115,247,800 (GRCm39) |
missense |
probably benign |
|
R8905:Zfc3h1
|
UTSW |
10 |
115,259,383 (GRCm39) |
missense |
probably benign |
0.05 |
R9045:Zfc3h1
|
UTSW |
10 |
115,263,319 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9164:Zfc3h1
|
UTSW |
10 |
115,259,374 (GRCm39) |
missense |
probably benign |
0.17 |
R9211:Zfc3h1
|
UTSW |
10 |
115,248,328 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9216:Zfc3h1
|
UTSW |
10 |
115,221,528 (GRCm39) |
missense |
unknown |
|
R9305:Zfc3h1
|
UTSW |
10 |
115,255,771 (GRCm39) |
missense |
probably benign |
0.19 |
R9372:Zfc3h1
|
UTSW |
10 |
115,221,223 (GRCm39) |
missense |
unknown |
|
R9394:Zfc3h1
|
UTSW |
10 |
115,254,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R9414:Zfc3h1
|
UTSW |
10 |
115,249,916 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9538:Zfc3h1
|
UTSW |
10 |
115,221,197 (GRCm39) |
missense |
unknown |
|
R9623:Zfc3h1
|
UTSW |
10 |
115,259,362 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9633:Zfc3h1
|
UTSW |
10 |
115,247,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R9747:Zfc3h1
|
UTSW |
10 |
115,244,821 (GRCm39) |
missense |
possibly damaging |
0.58 |
Z1176:Zfc3h1
|
UTSW |
10 |
115,243,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCTGCGGAGATGTTAAGTG -3'
(R):5'- CGCCCCAAGGAATTATGACCATAG -3'
Sequencing Primer
(F):5'- ACTGCTGGTGATTGAACCTG -3'
(R):5'- TAGCATACATCAACCACATGGCTG -3'
|
Posted On |
2020-07-13 |