Incidental Mutation 'R8724:Zc3h13'
| ID |
662306 |
| 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 |
068573-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R8724 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75569512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1453
(V1453A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
| AlphaFold |
E9Q784 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022577
AA Change: V1453A
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: V1453A
| 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 |
unknown
Transcript: ENSMUST00000227049
AA Change: V1453A
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,737,405 (GRCm39) |
D2826E |
unknown |
Het |
| Asb3 |
A |
T |
11: 31,051,120 (GRCm39) |
I486F |
probably damaging |
Het |
| Atg4b |
A |
T |
1: 93,696,023 (GRCm39) |
Y54F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,106,945 (GRCm39) |
I792F |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 36,945,042 (GRCm39) |
V334I |
probably damaging |
Het |
| Ccser1 |
A |
C |
6: 61,288,199 (GRCm39) |
S121R |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,856,199 (GRCm39) |
V406E |
possibly damaging |
Het |
| Ces2g |
C |
A |
8: 105,692,955 (GRCm39) |
A331D |
probably benign |
Het |
| Csnk1g2 |
G |
A |
10: 80,474,760 (GRCm39) |
R299H |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dock10 |
T |
G |
1: 80,570,344 (GRCm39) |
I371L |
probably benign |
Het |
| Dpp9 |
T |
A |
17: 56,512,867 (GRCm39) |
T114S |
probably benign |
Het |
| Dusp13b |
T |
C |
14: 21,796,475 (GRCm39) |
R160G |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,923,961 (GRCm39) |
D188G |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,651,624 (GRCm39) |
K122R |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,765,886 (GRCm39) |
S1486P |
possibly damaging |
Het |
| Elf3 |
A |
G |
1: 135,182,098 (GRCm39) |
I361T |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,403,818 (GRCm39) |
C761Y |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,368 (GRCm39) |
I237T |
probably damaging |
Het |
| Eya1 |
A |
T |
1: 14,279,206 (GRCm39) |
D346E |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,786 (GRCm39) |
Y2309C |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,202,066 (GRCm39) |
D1269G |
probably damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Fnbp4 |
T |
C |
2: 90,577,097 (GRCm39) |
V143A |
probably damaging |
Het |
| Foxo6 |
A |
G |
4: 120,144,109 (GRCm39) |
I114T |
probably damaging |
Het |
| Gm6741 |
T |
C |
17: 91,544,564 (GRCm39) |
I109T |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Hsf1 |
C |
T |
15: 76,381,999 (GRCm39) |
S199L |
probably damaging |
Het |
| Htr3a |
T |
C |
9: 48,815,981 (GRCm39) |
N152S |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,617,100 (GRCm39) |
E82D |
probably benign |
Het |
| Kank2 |
T |
G |
9: 21,705,917 (GRCm39) |
K367T |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,916,146 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,931,335 (GRCm39) |
V643I |
probably benign |
Het |
| Lipk |
G |
A |
19: 33,996,120 (GRCm39) |
V11M |
probably benign |
Het |
| Med4 |
T |
A |
14: 73,751,249 (GRCm39) |
L66* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,451,500 (GRCm39) |
K379E |
probably damaging |
Het |
| Nat1 |
T |
A |
8: 67,944,443 (GRCm39) |
I276N |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,141,184 (GRCm39) |
V910M |
possibly damaging |
Het |
| Or10ag53 |
T |
A |
2: 87,082,704 (GRCm39) |
I141N |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,373 (GRCm39) |
D266E |
probably damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,124,583 (GRCm39) |
V529A |
probably benign |
Het |
| Pcdhga7 |
C |
T |
18: 37,848,146 (GRCm39) |
T51I |
probably benign |
Het |
| Pdcd1 |
A |
G |
1: 93,968,956 (GRCm39) |
Y121H |
probably damaging |
Het |
| Pdia6 |
A |
G |
12: 17,333,982 (GRCm39) |
D438G |
unknown |
Het |
| Pgm1 |
A |
G |
4: 99,786,964 (GRCm39) |
T68A |
probably benign |
Het |
| Pik3c2g |
G |
A |
6: 139,913,619 (GRCm39) |
V1006I |
unknown |
Het |
| Plk4 |
C |
T |
3: 40,768,022 (GRCm39) |
T855I |
probably damaging |
Het |
| Pnldc1 |
T |
A |
17: 13,111,703 (GRCm39) |
N335Y |
probably damaging |
Het |
| Prkcq |
C |
T |
2: 11,304,784 (GRCm39) |
P658S |
probably benign |
Het |
| Rbl2 |
T |
C |
8: 91,841,837 (GRCm39) |
I1011T |
possibly damaging |
Het |
| Rev1 |
A |
C |
1: 38,127,150 (GRCm39) |
V370G |
probably damaging |
Het |
| Rtn4 |
A |
G |
11: 29,643,316 (GRCm39) |
E43G |
unknown |
Het |
| Rtp2 |
C |
T |
16: 23,746,064 (GRCm39) |
G189D |
possibly damaging |
Het |
| Ryr1 |
G |
A |
7: 28,816,802 (GRCm39) |
A78V |
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,293,165 (GRCm39) |
Y850* |
probably null |
Het |
| Senp3 |
T |
C |
11: 69,564,419 (GRCm39) |
Q547R |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,976 (GRCm39) |
L402P |
probably damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,855,453 (GRCm39) |
I485V |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,012,610 (GRCm39) |
H204Q |
probably benign |
Het |
| Slc9a4 |
T |
G |
1: 40,623,301 (GRCm39) |
I180S |
probably damaging |
Het |
| Smyd1 |
T |
A |
6: 71,193,767 (GRCm39) |
Y420F |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,139,658 (GRCm39) |
I1168T |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,033,861 (GRCm39) |
E7737G |
possibly damaging |
Het |
| Trappc4 |
T |
A |
9: 44,316,560 (GRCm39) |
H145L |
probably benign |
Het |
| Wdr75 |
T |
A |
1: 45,856,560 (GRCm39) |
W528R |
probably damaging |
Het |
| Zfp143 |
T |
C |
7: 109,681,110 (GRCm39) |
I318T |
probably benign |
Het |
| Zfp846 |
G |
A |
9: 20,505,352 (GRCm39) |
R404H |
possibly 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 |
|
|
R0408:Zc3h13
|
UTSW |
14 |
75,529,626 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- AGAGACCGACTTCAAGAACG -3'
(R):5'- TGCACTGTCACAGAGAGCAG -3'
Sequencing Primer
(F):5'- TCCCAGACAGCGGGAATG -3'
(R):5'- TGTCACAGAGAGCAGCCAATTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation