Incidental Mutation 'R8391:Zc3h13'
| ID |
647396 |
| 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 |
067756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R8391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75568625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1306
(L1306Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
| AlphaFold |
E9Q784 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022577
AA Change: L1306Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: L1306Q
| 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: L1306Q
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,368,968 (GRCm39) |
S155P |
possibly damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,626,278 (GRCm39) |
R101W |
probably damaging |
Het |
| Angpt1 |
T |
A |
15: 42,375,794 (GRCm39) |
N154I |
probably damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,909,602 (GRCm39) |
W616R |
probably damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,047,888 (GRCm39) |
I641F |
possibly damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,645,605 (GRCm39) |
V1226A |
possibly damaging |
Het |
| Cacna1b |
G |
A |
2: 24,596,212 (GRCm39) |
A493V |
probably damaging |
Het |
| Cacna1h |
G |
A |
17: 25,596,204 (GRCm39) |
A1939V |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,325,706 (GRCm39) |
I1027V |
probably benign |
Het |
| Cbln3 |
G |
A |
14: 56,120,523 (GRCm39) |
R170C |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,604,517 (GRCm39) |
S842G |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,718,491 (GRCm39) |
Q284L |
unknown |
Het |
| Crybg2 |
T |
C |
4: 133,803,035 (GRCm39) |
F889L |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,595,788 (GRCm39) |
N366D |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,025,127 (GRCm39) |
Y124N |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,309,894 (GRCm39) |
F228S |
probably damaging |
Het |
| Gm5565 |
C |
A |
5: 146,096,962 (GRCm39) |
R59L |
probably benign |
Het |
| Gm8947 |
A |
T |
1: 151,068,737 (GRCm39) |
D190V |
probably benign |
Het |
| Grid2ip |
T |
C |
5: 143,365,951 (GRCm39) |
M543T |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,681,213 (GRCm39) |
L957P |
probably damaging |
Het |
| Hint1 |
T |
C |
11: 54,757,368 (GRCm39) |
I18T |
possibly damaging |
Het |
| Il23r |
T |
C |
6: 67,429,374 (GRCm39) |
S323G |
probably benign |
Het |
| Iqcf3 |
T |
G |
9: 106,438,175 (GRCm39) |
E16A |
unknown |
Het |
| Kcnj1 |
A |
T |
9: 32,308,028 (GRCm39) |
T151S |
probably damaging |
Het |
| Kdm1a |
G |
T |
4: 136,281,154 (GRCm39) |
T685K |
probably benign |
Het |
| Lipo4 |
T |
A |
19: 33,488,965 (GRCm39) |
H206L |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,185 (GRCm39) |
Y1081H |
probably damaging |
Het |
| Masp1 |
A |
T |
16: 23,289,128 (GRCm39) |
H557Q |
possibly damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,400,691 (GRCm39) |
T605I |
possibly damaging |
Het |
| Or1af1 |
T |
A |
2: 37,110,277 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or1j21 |
C |
T |
2: 36,684,096 (GRCm39) |
P283S |
probably damaging |
Het |
| Pkmyt1 |
C |
T |
17: 23,954,013 (GRCm39) |
R307C |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,129,060 (GRCm39) |
I136V |
probably benign |
Het |
| Ppp1r12c |
A |
C |
7: 4,500,431 (GRCm39) |
Y150D |
probably damaging |
Het |
| Qrich2 |
C |
G |
11: 116,356,403 (GRCm39) |
V149L |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,121,215 (GRCm39) |
F176L |
|
Het |
| Ric8a |
T |
A |
7: 140,437,916 (GRCm39) |
S52T |
probably benign |
Het |
| Romo1 |
G |
T |
2: 155,986,340 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
G |
A |
4: 133,591,346 (GRCm39) |
H318Y |
probably damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,768,151 (GRCm39) |
N41S |
probably benign |
Het |
| Srrm4 |
T |
G |
5: 116,582,755 (GRCm39) |
T567P |
unknown |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| St6galnac4 |
G |
T |
2: 32,484,086 (GRCm39) |
D95Y |
probably damaging |
Het |
| Sult2a6 |
T |
C |
7: 13,956,516 (GRCm39) |
|
probably null |
Het |
| Synj2 |
A |
G |
17: 5,991,796 (GRCm39) |
E24G |
probably damaging |
Het |
| Try10 |
T |
G |
6: 41,334,306 (GRCm39) |
L166R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,562,544 (GRCm39) |
V28767A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,604,822 (GRCm39) |
I18371F |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,726,179 (GRCm39) |
T674S |
probably benign |
Het |
| Zscan4-ps3 |
A |
G |
7: 11,346,801 (GRCm39) |
Y279C |
probably benign |
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 |
|
|
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'- ACATCGCAAGCTGGTGGATC -3'
(R):5'- AAGCCTAGGCACTGATACAGC -3'
Sequencing Primer
(F):5'- ACGCTCCCCATCTAATGA -3'
(R):5'- GGCACTGATACAGCTGATTTTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation