Incidental Mutation 'R0408:Zc3h13'
ID |
40126 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h13
|
Ensembl Gene |
ENSMUSG00000022000 |
Gene Name |
zinc finger CCCH type containing 13 |
Synonyms |
3110050K21Rik, C87618, 4930570G11Rik, 2600010B19Rik |
MMRRC Submission |
038610-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R0408 (G1)
|
Quality Score |
148 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 75529626 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 42
(C42*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
AlphaFold |
E9Q784 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022577
AA Change: C42*
|
SMART Domains |
Protein: ENSMUSP00000022577 Gene: ENSMUSG00000022000 AA Change: C42*
Domain | Start | End | E-Value | Type |
ZnF_C3H1
|
36 |
63 |
4.54e-4 |
SMART |
low complexity region
|
136 |
145 |
N/A |
INTRINSIC |
coiled coil region
|
162 |
197 |
N/A |
INTRINSIC |
low complexity region
|
204 |
233 |
N/A |
INTRINSIC |
low complexity region
|
261 |
269 |
N/A |
INTRINSIC |
low complexity region
|
278 |
287 |
N/A |
INTRINSIC |
low complexity region
|
321 |
357 |
N/A |
INTRINSIC |
low complexity region
|
411 |
478 |
N/A |
INTRINSIC |
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
low complexity region
|
496 |
575 |
N/A |
INTRINSIC |
low complexity region
|
684 |
701 |
N/A |
INTRINSIC |
coiled coil region
|
706 |
865 |
N/A |
INTRINSIC |
low complexity region
|
907 |
918 |
N/A |
INTRINSIC |
internal_repeat_1
|
921 |
948 |
1.8e-6 |
PROSPERO |
low complexity region
|
964 |
985 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1052 |
N/A |
INTRINSIC |
low complexity region
|
1071 |
1087 |
N/A |
INTRINSIC |
low complexity region
|
1160 |
1218 |
N/A |
INTRINSIC |
low complexity region
|
1253 |
1265 |
N/A |
INTRINSIC |
internal_repeat_1
|
1273 |
1301 |
1.8e-6 |
PROSPERO |
low complexity region
|
1325 |
1349 |
N/A |
INTRINSIC |
low complexity region
|
1366 |
1391 |
N/A |
INTRINSIC |
low complexity region
|
1400 |
1425 |
N/A |
INTRINSIC |
low complexity region
|
1431 |
1442 |
N/A |
INTRINSIC |
low complexity region
|
1690 |
1697 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226417
|
Predicted Effect |
probably null
Transcript: ENSMUST00000227049
AA Change: C42*
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,903,446 (GRCm39) |
N1032K |
probably damaging |
Het |
Abcc8 |
A |
G |
7: 45,756,457 (GRCm39) |
I1416T |
probably damaging |
Het |
Aco2 |
T |
C |
15: 81,797,319 (GRCm39) |
|
probably null |
Het |
Akap13 |
C |
T |
7: 75,396,544 (GRCm39) |
L2514F |
probably damaging |
Het |
Aldh1a3 |
A |
G |
7: 66,055,798 (GRCm39) |
V331A |
probably damaging |
Het |
Arid3a |
T |
A |
10: 79,786,667 (GRCm39) |
D473E |
probably benign |
Het |
Atg9a |
A |
G |
1: 75,161,939 (GRCm39) |
S536P |
probably damaging |
Het |
Atxn7 |
A |
T |
14: 14,100,317 (GRCm38) |
S668C |
probably damaging |
Het |
Bcar3 |
A |
T |
3: 122,302,033 (GRCm39) |
I243F |
probably damaging |
Het |
Bend6 |
G |
A |
1: 33,901,834 (GRCm39) |
P183S |
probably damaging |
Het |
Bfsp2 |
A |
T |
9: 103,357,299 (GRCm39) |
S43T |
probably benign |
Het |
Camk4 |
G |
A |
18: 33,262,845 (GRCm39) |
D136N |
probably damaging |
Het |
Ceacam3 |
G |
T |
7: 16,885,808 (GRCm39) |
|
probably benign |
Het |
Chrm3 |
T |
C |
13: 9,927,969 (GRCm39) |
I356V |
probably benign |
Het |
Clec9a |
T |
A |
6: 129,396,532 (GRCm39) |
I133N |
possibly damaging |
Het |
Ctnnd2 |
T |
C |
15: 30,634,823 (GRCm39) |
L157P |
probably damaging |
Het |
Ddhd2 |
T |
C |
8: 26,229,614 (GRCm39) |
|
probably null |
Het |
Def8 |
T |
C |
8: 124,186,656 (GRCm39) |
V436A |
probably damaging |
Het |
Dipk1c |
T |
A |
18: 84,738,488 (GRCm39) |
|
probably null |
Het |
Dock10 |
T |
C |
1: 80,518,193 (GRCm39) |
K1293R |
probably benign |
Het |
Dync1h1 |
T |
G |
12: 110,598,126 (GRCm39) |
D1772E |
probably benign |
Het |
Ephx4 |
G |
T |
5: 107,561,387 (GRCm39) |
G72C |
probably damaging |
Het |
Fam136a |
T |
G |
6: 86,343,707 (GRCm39) |
V68G |
possibly damaging |
Het |
Fcgrt |
T |
C |
7: 44,751,363 (GRCm39) |
E195G |
probably damaging |
Het |
Fut9 |
T |
A |
4: 25,620,319 (GRCm39) |
Q165L |
possibly damaging |
Het |
Glb1l |
T |
C |
1: 75,185,479 (GRCm39) |
Y77C |
probably damaging |
Het |
Gpr26 |
T |
C |
7: 131,569,249 (GRCm39) |
V198A |
possibly damaging |
Het |
Gpr26 |
C |
A |
7: 131,576,001 (GRCm39) |
|
probably null |
Het |
Gsdma3 |
A |
C |
11: 98,526,164 (GRCm39) |
E296A |
probably benign |
Het |
Hyou1 |
G |
T |
9: 44,295,989 (GRCm39) |
G385W |
probably damaging |
Het |
Il17rb |
T |
C |
14: 29,718,637 (GRCm39) |
S482G |
probably benign |
Het |
Itgb4 |
A |
T |
11: 115,898,428 (GRCm39) |
R1715W |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,263,717 (GRCm39) |
S411G |
probably benign |
Het |
Kdm3a |
C |
T |
6: 71,588,663 (GRCm39) |
D449N |
probably benign |
Het |
Kifbp |
T |
C |
10: 62,401,832 (GRCm39) |
I23M |
probably benign |
Het |
Klhl26 |
T |
C |
8: 70,905,130 (GRCm39) |
D226G |
probably damaging |
Het |
Klra1 |
T |
A |
6: 130,354,737 (GRCm39) |
I94F |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,589,894 (GRCm39) |
D808G |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,567,603 (GRCm39) |
M272I |
probably damaging |
Het |
Masp2 |
A |
G |
4: 148,690,496 (GRCm39) |
D251G |
probably benign |
Het |
Mob3b |
T |
C |
4: 35,083,991 (GRCm39) |
D66G |
probably damaging |
Het |
Myo7a |
T |
C |
7: 97,705,988 (GRCm39) |
Q1863R |
probably damaging |
Het |
Naa12 |
T |
C |
18: 80,255,029 (GRCm39) |
S108P |
probably damaging |
Het |
Or10al3 |
G |
A |
17: 38,012,190 (GRCm39) |
V210I |
probably benign |
Het |
Or4c103 |
A |
T |
2: 88,513,999 (GRCm39) |
F26I |
probably benign |
Het |
Pdgfd |
T |
A |
9: 6,293,928 (GRCm39) |
Y167* |
probably null |
Het |
Pfas |
A |
G |
11: 68,891,931 (GRCm39) |
|
probably null |
Het |
Plin1 |
T |
A |
7: 79,372,394 (GRCm39) |
T393S |
probably damaging |
Het |
Prdm15 |
A |
T |
16: 97,636,986 (GRCm39) |
N110K |
possibly damaging |
Het |
Prune2 |
T |
A |
19: 17,099,674 (GRCm39) |
V1726D |
probably benign |
Het |
Sestd1 |
T |
A |
2: 77,022,137 (GRCm39) |
D518V |
probably damaging |
Het |
Setd2 |
C |
T |
9: 110,423,310 (GRCm39) |
P344S |
probably damaging |
Het |
Slc22a1 |
A |
T |
17: 12,875,828 (GRCm39) |
I462N |
probably damaging |
Het |
Slc6a1 |
G |
A |
6: 114,279,761 (GRCm39) |
V142I |
probably benign |
Het |
Tbc1d14 |
G |
T |
5: 36,728,643 (GRCm39) |
T241K |
possibly damaging |
Het |
Uaca |
T |
C |
9: 60,779,141 (GRCm39) |
L1176P |
possibly damaging |
Het |
Ube2g1 |
G |
C |
11: 72,563,791 (GRCm39) |
G52A |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,259,934 (GRCm39) |
*957R |
probably null |
Het |
Vmn2r125 |
A |
T |
4: 156,703,153 (GRCm39) |
E177V |
probably damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,282,723 (GRCm39) |
F631S |
probably damaging |
Het |
Zc3h14 |
T |
G |
12: 98,730,082 (GRCm39) |
V13G |
probably damaging |
Het |
Zfat |
A |
T |
15: 68,052,141 (GRCm39) |
V551D |
probably benign |
Het |
Zfp618 |
C |
T |
4: 63,004,809 (GRCm39) |
R70W |
probably damaging |
Het |
|
Other mutations in Zc3h13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00945:Zc3h13
|
APN |
14 |
75,567,587 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01129:Zc3h13
|
APN |
14 |
75,573,439 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01599:Zc3h13
|
APN |
14 |
75,547,163 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01844:Zc3h13
|
APN |
14 |
75,581,209 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02132:Zc3h13
|
APN |
14 |
75,567,787 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03108:Zc3h13
|
APN |
14 |
75,569,206 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL03299:Zc3h13
|
APN |
14 |
75,531,381 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03377:Zc3h13
|
APN |
14 |
75,531,416 (GRCm39) |
missense |
possibly damaging |
0.53 |
B5639:Zc3h13
|
UTSW |
14 |
75,553,479 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Zc3h13
|
UTSW |
14 |
75,561,050 (GRCm39) |
small insertion |
probably benign |
|
FR4304:Zc3h13
|
UTSW |
14 |
75,561,043 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Zc3h13
|
UTSW |
14 |
75,561,032 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Zc3h13
|
UTSW |
14 |
75,561,041 (GRCm39) |
nonsense |
probably null |
|
FR4548:Zc3h13
|
UTSW |
14 |
75,561,039 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Zc3h13
|
UTSW |
14 |
75,561,038 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Zc3h13
|
UTSW |
14 |
75,561,032 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Zc3h13
|
UTSW |
14 |
75,561,037 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Zc3h13
|
UTSW |
14 |
75,561,039 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Zc3h13
|
UTSW |
14 |
75,561,036 (GRCm39) |
small insertion |
probably benign |
|
PIT4696001:Zc3h13
|
UTSW |
14 |
75,569,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R0103:Zc3h13
|
UTSW |
14 |
75,567,908 (GRCm39) |
missense |
probably damaging |
0.98 |
R0103:Zc3h13
|
UTSW |
14 |
75,567,908 (GRCm39) |
missense |
probably damaging |
0.98 |
R0127:Zc3h13
|
UTSW |
14 |
75,560,694 (GRCm39) |
missense |
unknown |
|
R0374:Zc3h13
|
UTSW |
14 |
75,546,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R0396:Zc3h13
|
UTSW |
14 |
75,560,922 (GRCm39) |
missense |
unknown |
|
R0967:Zc3h13
|
UTSW |
14 |
75,581,179 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1006:Zc3h13
|
UTSW |
14 |
75,567,989 (GRCm39) |
missense |
probably damaging |
0.99 |
R1142:Zc3h13
|
UTSW |
14 |
75,553,424 (GRCm39) |
missense |
probably benign |
0.14 |
R1605:Zc3h13
|
UTSW |
14 |
75,574,923 (GRCm39) |
nonsense |
probably null |
|
R2021:Zc3h13
|
UTSW |
14 |
75,567,635 (GRCm39) |
missense |
probably damaging |
0.96 |
R2270:Zc3h13
|
UTSW |
14 |
75,569,587 (GRCm39) |
missense |
probably benign |
0.03 |
R3508:Zc3h13
|
UTSW |
14 |
75,546,380 (GRCm39) |
nonsense |
probably null |
|
R3745:Zc3h13
|
UTSW |
14 |
75,568,101 (GRCm39) |
missense |
probably benign |
0.03 |
R3954:Zc3h13
|
UTSW |
14 |
75,567,178 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4205:Zc3h13
|
UTSW |
14 |
75,565,041 (GRCm39) |
missense |
unknown |
|
R4799:Zc3h13
|
UTSW |
14 |
75,576,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R5042:Zc3h13
|
UTSW |
14 |
75,576,836 (GRCm39) |
missense |
probably damaging |
0.98 |
R5133:Zc3h13
|
UTSW |
14 |
75,573,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R5384:Zc3h13
|
UTSW |
14 |
75,581,059 (GRCm39) |
missense |
probably benign |
0.14 |
R5432:Zc3h13
|
UTSW |
14 |
75,568,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R5611:Zc3h13
|
UTSW |
14 |
75,568,348 (GRCm39) |
missense |
probably benign |
0.10 |
R5687:Zc3h13
|
UTSW |
14 |
75,569,400 (GRCm39) |
nonsense |
probably null |
|
R5726:Zc3h13
|
UTSW |
14 |
75,568,269 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5817:Zc3h13
|
UTSW |
14 |
75,565,572 (GRCm39) |
missense |
probably damaging |
0.96 |
R6087:Zc3h13
|
UTSW |
14 |
75,568,149 (GRCm39) |
missense |
probably damaging |
0.96 |
R6224:Zc3h13
|
UTSW |
14 |
75,574,849 (GRCm39) |
missense |
probably damaging |
0.99 |
R6247:Zc3h13
|
UTSW |
14 |
75,581,176 (GRCm39) |
missense |
probably benign |
0.14 |
R6278:Zc3h13
|
UTSW |
14 |
75,567,863 (GRCm39) |
missense |
probably benign |
0.01 |
R6315:Zc3h13
|
UTSW |
14 |
75,546,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R6490:Zc3h13
|
UTSW |
14 |
75,560,998 (GRCm39) |
small deletion |
probably benign |
|
R6598:Zc3h13
|
UTSW |
14 |
75,569,623 (GRCm39) |
missense |
probably damaging |
0.99 |
R7051:Zc3h13
|
UTSW |
14 |
75,568,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R7054:Zc3h13
|
UTSW |
14 |
75,559,227 (GRCm39) |
missense |
probably benign |
0.19 |
R7135:Zc3h13
|
UTSW |
14 |
75,559,161 (GRCm39) |
missense |
unknown |
|
R7307:Zc3h13
|
UTSW |
14 |
75,567,981 (GRCm39) |
missense |
probably damaging |
0.96 |
R7515:Zc3h13
|
UTSW |
14 |
75,546,349 (GRCm39) |
missense |
unknown |
|
R7680:Zc3h13
|
UTSW |
14 |
75,567,955 (GRCm39) |
missense |
probably damaging |
0.99 |
R8031:Zc3h13
|
UTSW |
14 |
75,568,070 (GRCm39) |
missense |
not run |
|
R8048:Zc3h13
|
UTSW |
14 |
75,561,977 (GRCm39) |
missense |
unknown |
|
R8059:Zc3h13
|
UTSW |
14 |
75,565,250 (GRCm39) |
missense |
unknown |
|
R8362:Zc3h13
|
UTSW |
14 |
75,561,909 (GRCm39) |
missense |
unknown |
|
R8391:Zc3h13
|
UTSW |
14 |
75,568,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R8724:Zc3h13
|
UTSW |
14 |
75,569,512 (GRCm39) |
missense |
probably benign |
0.05 |
R9081:Zc3h13
|
UTSW |
14 |
75,569,381 (GRCm39) |
small deletion |
probably benign |
|
R9082:Zc3h13
|
UTSW |
14 |
75,569,381 (GRCm39) |
small deletion |
probably benign |
|
R9101:Zc3h13
|
UTSW |
14 |
75,561,042 (GRCm39) |
missense |
unknown |
|
R9214:Zc3h13
|
UTSW |
14 |
75,560,991 (GRCm39) |
missense |
unknown |
|
R9308:Zc3h13
|
UTSW |
14 |
75,565,418 (GRCm39) |
missense |
unknown |
|
R9376:Zc3h13
|
UTSW |
14 |
75,561,128 (GRCm39) |
missense |
unknown |
|
R9618:Zc3h13
|
UTSW |
14 |
75,567,542 (GRCm39) |
missense |
|
|
R9665:Zc3h13
|
UTSW |
14 |
75,567,989 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Zc3h13
|
UTSW |
14 |
75,565,505 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCCCATTCCAGGAACTACTCTCTACCTA -3'
(R):5'- GACTCAGTCTCTCCACAGGTGTTCA -3'
Sequencing Primer
(F):5'- GGAACTACTCTCTACCTAAACACAC -3'
(R):5'- CTACCAAAACATGTAAACATGTACAC -3'
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Posted On |
2013-05-23 |