Incidental Mutation 'IGL03377:Zc3h13'
| ID |
420538 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zc3h13
|
| Ensembl Gene |
ENSMUSG00000022000 |
| Gene Name |
zinc finger CCCH type containing 13 |
| Synonyms |
3110050K21Rik, C87618, 4930570G11Rik, 2600010B19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL03377
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75531416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 105
(T105A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
| AlphaFold |
E9Q784 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022577
AA Change: T105A
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: T105A
| 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 |
possibly damaging
Transcript: ENSMUST00000227049
AA Change: T105A
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,096,256 (GRCm39) |
I489L |
probably benign |
Het |
| Acox3 |
T |
C |
5: 35,751,676 (GRCm39) |
L237P |
probably damaging |
Het |
| Ahi1 |
T |
G |
10: 20,893,903 (GRCm39) |
I878S |
possibly damaging |
Het |
| Alox15 |
T |
A |
11: 70,240,488 (GRCm39) |
Y231F |
probably damaging |
Het |
| Asxl1 |
A |
T |
2: 153,238,700 (GRCm39) |
K342M |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,519 (GRCm39) |
I150M |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,363,958 (GRCm39) |
Y822H |
probably damaging |
Het |
| Ccdc171 |
T |
C |
4: 83,581,754 (GRCm39) |
Y628H |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,449,056 (GRCm39) |
Y141N |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,766,116 (GRCm39) |
V166A |
probably damaging |
Het |
| Chrdl2 |
G |
A |
7: 99,671,259 (GRCm39) |
A126T |
probably benign |
Het |
| Cyp2d26 |
T |
C |
15: 82,674,755 (GRCm39) |
E409G |
possibly damaging |
Het |
| Dicer1 |
T |
C |
12: 104,678,456 (GRCm39) |
I621V |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,536,181 (GRCm39) |
|
probably null |
Het |
| Epha2 |
T |
A |
4: 141,049,723 (GRCm39) |
S776R |
probably benign |
Het |
| Fam107b |
A |
T |
2: 3,779,481 (GRCm39) |
E52V |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,228,381 (GRCm39) |
N18S |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 108,968,597 (GRCm39) |
F460I |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,800,247 (GRCm39) |
I329N |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,783,848 (GRCm39) |
S254G |
probably benign |
Het |
| Glis1 |
T |
G |
4: 107,489,478 (GRCm39) |
H688Q |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,890,937 (GRCm39) |
E898G |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,019,021 (GRCm39) |
D368E |
probably benign |
Het |
| Gucy1a1 |
T |
A |
3: 82,013,322 (GRCm39) |
H440L |
probably damaging |
Het |
| H2-M10.5 |
A |
T |
17: 37,084,377 (GRCm39) |
D113V |
probably benign |
Het |
| Hook2 |
G |
T |
8: 85,727,964 (GRCm39) |
E554* |
probably null |
Het |
| Itpr2 |
T |
A |
6: 146,231,256 (GRCm39) |
T1135S |
probably benign |
Het |
| Itpr2 |
A |
C |
6: 146,231,213 (GRCm39) |
V1182G |
probably damaging |
Het |
| Kdm4c |
T |
C |
4: 74,189,492 (GRCm39) |
I69T |
possibly damaging |
Het |
| Klhl31 |
A |
T |
9: 77,558,345 (GRCm39) |
K354* |
probably null |
Het |
| Krt222 |
T |
A |
11: 99,127,339 (GRCm39) |
K159* |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,529,369 (GRCm39) |
E2004G |
possibly damaging |
Het |
| Man2a2 |
A |
T |
7: 80,008,800 (GRCm39) |
|
probably null |
Het |
| Med24 |
A |
G |
11: 98,595,962 (GRCm39) |
F963L |
possibly damaging |
Het |
| Mphosph8 |
A |
G |
14: 56,930,943 (GRCm39) |
E744G |
probably damaging |
Het |
| Mypn |
A |
G |
10: 63,028,644 (GRCm39) |
S140P |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,344,878 (GRCm39) |
F331L |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,890,699 (GRCm39) |
G1798W |
probably damaging |
Het |
| Or5d18 |
A |
T |
2: 87,864,589 (GRCm39) |
V298D |
probably damaging |
Het |
| Patj |
C |
T |
4: 98,353,341 (GRCm39) |
P110L |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,347,747 (GRCm39) |
|
probably null |
Het |
| Prdm5 |
A |
G |
6: 65,836,457 (GRCm39) |
H256R |
possibly damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,062,473 (GRCm39) |
Y267H |
probably damaging |
Het |
| Rfpl4 |
T |
G |
7: 5,113,464 (GRCm39) |
Y239S |
probably damaging |
Het |
| Rnpepl1 |
A |
T |
1: 92,846,953 (GRCm39) |
M592L |
probably benign |
Het |
| Serpinc1 |
A |
T |
1: 160,821,012 (GRCm39) |
H32L |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,620,735 (GRCm39) |
T660S |
unknown |
Het |
| Slc26a2 |
T |
C |
18: 61,331,658 (GRCm39) |
N591S |
probably damaging |
Het |
| Slc9b2 |
C |
T |
3: 135,042,119 (GRCm39) |
A466V |
probably damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,180,492 (GRCm39) |
T637S |
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,533,338 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,259,594 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,817 (GRCm39) |
M207V |
possibly damaging |
Het |
| Wdcp |
T |
G |
12: 4,900,691 (GRCm39) |
Y182* |
probably null |
Het |
| Zfp933 |
T |
C |
4: 147,913,168 (GRCm39) |
K30R |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation