Incidental Mutation 'R2325:Zc3h15'
| ID |
244869 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h15
|
| Ensembl Gene |
ENSMUSG00000027091 |
| Gene Name |
zinc finger CCCH-type containing 15 |
| Synonyms |
1810012H02Rik, FM22, 1700006A17Rik, 2610312B22Rik, Ierepo4 |
| MMRRC Submission |
040316-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.592)
|
| Stock # |
R2325 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
83474922-83494961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83483783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 53
(G53S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081591]
|
| AlphaFold |
Q3TIV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081591
AA Change: G53S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080301
Gene: ENSMUSG00000027091
AA Change: G53S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
coiled coil region
|
60 |
86 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
99 |
125 |
7.84e-8 |
SMART |
|
ZnF_C3H1
|
175 |
211 |
3.81e0 |
SMART |
|
Pfam:DFRP_C
|
229 |
336 |
4.2e-23 |
PFAM |
|
low complexity region
|
410 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130948
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140086
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145099
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
| Atoh7 |
C |
A |
10: 62,935,924 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
C |
T |
10: 98,854,757 (GRCm39) |
Q219* |
probably null |
Het |
| B3galt2 |
A |
G |
1: 143,522,926 (GRCm39) |
D354G |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,778,286 (GRCm39) |
R34G |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,981,576 (GRCm39) |
C126S |
probably benign |
Het |
| Dse |
A |
T |
10: 34,060,043 (GRCm39) |
S21T |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,917,745 (GRCm39) |
H558Q |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,784,622 (GRCm39) |
M457K |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,064,027 (GRCm39) |
|
probably null |
Het |
| Fam170a |
A |
G |
18: 50,414,917 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gin1 |
A |
C |
1: 97,720,286 (GRCm39) |
Y516S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,446,048 (GRCm39) |
E16G |
unknown |
Het |
| Gtf2b |
A |
G |
3: 142,485,851 (GRCm39) |
T176A |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,924,661 (GRCm39) |
S822F |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp8 |
A |
T |
4: 107,721,206 (GRCm39) |
D602V |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,139,875 (GRCm39) |
T817A |
probably damaging |
Het |
| Mroh9 |
A |
C |
1: 162,854,099 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
T |
C |
8: 87,575,088 (GRCm39) |
I736V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,397,827 (GRCm39) |
K490E |
possibly damaging |
Het |
| P2ry1 |
A |
T |
3: 60,910,999 (GRCm39) |
K46M |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,609 (GRCm39) |
L426H |
probably damaging |
Het |
| Prkci |
T |
A |
3: 31,085,217 (GRCm39) |
|
probably null |
Het |
| Prss35 |
G |
A |
9: 86,638,357 (GRCm39) |
G376R |
probably damaging |
Het |
| Scube2 |
C |
G |
7: 109,443,161 (GRCm39) |
C226S |
probably damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,024,692 (GRCm39) |
Y469S |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,889,904 (GRCm39) |
D797E |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,910,551 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
C |
A |
11: 82,325,341 (GRCm39) |
L114M |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,537 (GRCm39) |
C257* |
probably null |
Het |
| Zfp462 |
A |
C |
4: 55,013,712 (GRCm39) |
I1893L |
probably benign |
Het |
|
| Other mutations in Zc3h15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01619:Zc3h15
|
APN |
2 |
83,490,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01688:Zc3h15
|
APN |
2 |
83,492,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01951:Zc3h15
|
APN |
2 |
83,491,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02514:Zc3h15
|
APN |
2 |
83,483,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02852:Zc3h15
|
APN |
2 |
83,475,015 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03075:Zc3h15
|
APN |
2 |
83,492,535 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03055:Zc3h15
|
UTSW |
2 |
83,491,515 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0117:Zc3h15
|
UTSW |
2 |
83,488,427 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0465:Zc3h15
|
UTSW |
2 |
83,494,159 (GRCm39) |
splice site |
probably benign |
|
|
R1711:Zc3h15
|
UTSW |
2 |
83,491,492 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1861:Zc3h15
|
UTSW |
2 |
83,494,334 (GRCm39) |
missense |
unknown |
|
|
R2258:Zc3h15
|
UTSW |
2 |
83,487,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4152:Zc3h15
|
UTSW |
2 |
83,488,913 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4154:Zc3h15
|
UTSW |
2 |
83,488,913 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4420:Zc3h15
|
UTSW |
2 |
83,488,356 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5384:Zc3h15
|
UTSW |
2 |
83,490,574 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6341:Zc3h15
|
UTSW |
2 |
83,491,567 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6544:Zc3h15
|
UTSW |
2 |
83,491,492 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6923:Zc3h15
|
UTSW |
2 |
83,487,400 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7770:Zc3h15
|
UTSW |
2 |
83,488,476 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8782:Zc3h15
|
UTSW |
2 |
83,491,787 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAAGACAGCTACAGTGTACTTTAC -3'
(R):5'- GCTTGGAGAACTGTCTGAGAG -3'
Sequencing Primer
(F):5'- ACTAAGATTTGTGTATGTCGTT -3'
(R):5'- GAACTGTCTGAGAGGTACTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation