Incidental Mutation 'R8504:Zc3h7b'
| ID |
655496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7b
|
| Ensembl Gene |
ENSMUSG00000022390 |
| Gene Name |
zinc finger CCCH type containing 7B |
| Synonyms |
Scrg3 |
| MMRRC Submission |
067840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R8504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81629299-81680470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 81664719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 526
(L526R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109554]
|
| AlphaFold |
F8VPP8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109554
AA Change: L526R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: L526R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
34 |
113 |
2.3e-12 |
PFAM |
|
Pfam:TPR_1
|
82 |
115 |
2.4e-6 |
PFAM |
|
Pfam:TPR_8
|
82 |
115 |
8.2e-4 |
PFAM |
|
Pfam:TPR_8
|
116 |
143 |
4.8e-3 |
PFAM |
|
low complexity region
|
294 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
482 |
508 |
2.15e1 |
SMART |
|
ZnF_C3H1
|
612 |
638 |
2.03e1 |
SMART |
|
ZnF_C3H1
|
757 |
782 |
8.31e0 |
SMART |
|
ZnF_C2H2
|
843 |
867 |
2.86e-1 |
SMART |
|
ZnF_C3H1
|
889 |
914 |
7.81e-1 |
SMART |
|
low complexity region
|
959 |
981 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(9) : Gene trapped(9) |
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,922,983 (GRCm39) |
S1181P |
probably benign |
Het |
| Acvr1c |
C |
T |
2: 58,173,491 (GRCm39) |
C337Y |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,757,840 (GRCm39) |
E758G |
probably benign |
Het |
| Akap3 |
T |
A |
6: 126,841,493 (GRCm39) |
D37E |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,222,776 (GRCm39) |
H445L |
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,720,116 (GRCm39) |
I121N |
probably damaging |
Het |
| Arhgdia |
T |
C |
11: 120,470,354 (GRCm39) |
K135E |
probably benign |
Het |
| Ass1 |
T |
C |
2: 31,391,544 (GRCm39) |
F273S |
possibly damaging |
Het |
| Atp8a2 |
A |
C |
14: 59,885,366 (GRCm39) |
Y1119* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,959,000 (GRCm39) |
M3839K |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,365,370 (GRCm39) |
H2171R |
probably benign |
Het |
| Ccdc90b |
T |
A |
7: 92,224,545 (GRCm39) |
D183E |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,274,618 (GRCm39) |
T491S |
probably benign |
Het |
| Cercam |
T |
C |
2: 29,771,829 (GRCm39) |
S550P |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,723,472 (GRCm39) |
H1019R |
unknown |
Het |
| Coil |
A |
T |
11: 88,871,980 (GRCm39) |
K114* |
probably null |
Het |
| Csmd2 |
A |
C |
4: 128,440,483 (GRCm39) |
T3183P |
|
Het |
| Cul9 |
T |
C |
17: 46,814,506 (GRCm39) |
Y2219C |
probably damaging |
Het |
| Efhd2 |
G |
A |
4: 141,587,186 (GRCm39) |
Q199* |
probably null |
Het |
| Elp3 |
A |
T |
14: 65,785,360 (GRCm39) |
S499R |
probably benign |
Het |
| Exoc8 |
T |
G |
8: 125,622,709 (GRCm39) |
I553L |
probably benign |
Het |
| Fyco1 |
C |
A |
9: 123,659,142 (GRCm39) |
V345L |
probably benign |
Het |
| Galr3 |
T |
A |
15: 78,927,279 (GRCm39) |
V240E |
probably damaging |
Het |
| Gm21190 |
A |
G |
5: 15,730,862 (GRCm39) |
S165P |
probably benign |
Het |
| Gnal |
T |
A |
18: 67,350,255 (GRCm39) |
Y372* |
probably null |
Het |
| H2-DMa |
A |
G |
17: 34,357,416 (GRCm39) |
N230D |
probably damaging |
Het |
| Hk2 |
T |
C |
6: 82,721,847 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ighv3-4 |
T |
A |
12: 114,217,544 (GRCm39) |
I16F |
possibly damaging |
Het |
| Ivl |
T |
C |
3: 92,480,078 (GRCm39) |
|
probably benign |
Het |
| Klhl8 |
G |
A |
5: 104,015,814 (GRCm39) |
T434M |
probably benign |
Het |
| Lct |
A |
T |
1: 128,215,306 (GRCm39) |
S1757T |
probably damaging |
Het |
| Lmbr1l |
T |
A |
15: 98,810,065 (GRCm39) |
Y132F |
probably damaging |
Het |
| M6pr |
T |
C |
6: 122,293,029 (GRCm39) |
V203A |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,284,476 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
A |
T |
7: 141,360,892 (GRCm39) |
D1401V |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,227,786 (GRCm39) |
S291P |
probably damaging |
Het |
| Nynrin |
G |
C |
14: 56,107,703 (GRCm39) |
V937L |
probably benign |
Het |
| Or5d44 |
C |
T |
2: 88,141,825 (GRCm39) |
G105D |
probably benign |
Het |
| Or5m3 |
T |
G |
2: 85,838,149 (GRCm39) |
F10V |
probably damaging |
Het |
| Pank2 |
A |
G |
2: 131,135,320 (GRCm39) |
N386S |
probably benign |
Het |
| Phkg2 |
G |
T |
7: 127,181,528 (GRCm39) |
R237L |
possibly damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,590,432 (GRCm39) |
V1772I |
probably benign |
Het |
| Plch2 |
G |
T |
4: 155,068,852 (GRCm39) |
P1258Q |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,369,764 (GRCm39) |
I77N |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,176,936 (GRCm39) |
T954A |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 57,015,273 (GRCm39) |
V325A |
probably damaging |
Het |
| Rgs10 |
A |
T |
7: 128,019,793 (GRCm39) |
S16T |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,771,722 (GRCm39) |
V398E |
probably benign |
Het |
| Selenot |
A |
G |
3: 58,492,698 (GRCm39) |
I62V |
probably benign |
Het |
| Serpinb9e |
T |
A |
13: 33,439,092 (GRCm39) |
C173S |
probably benign |
Het |
| Slc13a3 |
G |
T |
2: 165,275,999 (GRCm39) |
T249K |
probably damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,701,171 (GRCm39) |
V741D |
possibly damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,106,592 (GRCm39) |
V258A |
probably damaging |
Het |
| Sycp2l |
T |
G |
13: 41,291,390 (GRCm39) |
L256R |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,585,038 (GRCm39) |
D266G |
probably benign |
Het |
| Tektl1 |
T |
C |
10: 78,586,463 (GRCm39) |
D196G |
probably damaging |
Het |
| Top2a |
C |
T |
11: 98,905,567 (GRCm39) |
V337I |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,388,139 (GRCm39) |
L1160P |
probably damaging |
Het |
| Unc13a |
A |
C |
8: 72,098,405 (GRCm39) |
F1127V |
possibly damaging |
Het |
| Wdr25 |
C |
T |
12: 108,992,393 (GRCm39) |
Q435* |
probably null |
Het |
| Zeb1 |
C |
A |
18: 5,705,127 (GRCm39) |
T48K |
possibly damaging |
Het |
| Zfhx2 |
A |
C |
14: 55,303,243 (GRCm39) |
S1580R |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,583,549 (GRCm39) |
I1139V |
possibly damaging |
Het |
| Zfp536 |
C |
A |
7: 37,179,492 (GRCm39) |
V1038L |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,286,947 (GRCm39) |
V166E |
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,883 (GRCm39) |
K250N |
possibly damaging |
Het |
|
| Other mutations in Zc3h7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Zc3h7b
|
APN |
15 |
81,656,000 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01955:Zc3h7b
|
APN |
15 |
81,676,205 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02526:Zc3h7b
|
APN |
15 |
81,677,338 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02582:Zc3h7b
|
APN |
15 |
81,653,341 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02736:Zc3h7b
|
APN |
15 |
81,676,175 (GRCm39) |
missense |
probably benign |
0.02 |
|
F6893:Zc3h7b
|
UTSW |
15 |
81,662,872 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0212:Zc3h7b
|
UTSW |
15 |
81,660,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Zc3h7b
|
UTSW |
15 |
81,653,031 (GRCm39) |
splice site |
probably benign |
|
|
R0471:Zc3h7b
|
UTSW |
15 |
81,666,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Zc3h7b
|
UTSW |
15 |
81,661,199 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1530:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1563:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1565:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1566:Zc3h7b
|
UTSW |
15 |
81,653,035 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1670:Zc3h7b
|
UTSW |
15 |
81,661,268 (GRCm39) |
missense |
probably benign |
|
|
R1712:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1727:Zc3h7b
|
UTSW |
15 |
81,652,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Zc3h7b
|
UTSW |
15 |
81,676,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2375:Zc3h7b
|
UTSW |
15 |
81,676,703 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2656:Zc3h7b
|
UTSW |
15 |
81,664,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Zc3h7b
|
UTSW |
15 |
81,676,451 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4764:Zc3h7b
|
UTSW |
15 |
81,653,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4815:Zc3h7b
|
UTSW |
15 |
81,677,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Zc3h7b
|
UTSW |
15 |
81,663,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Zc3h7b
|
UTSW |
15 |
81,677,375 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5169:Zc3h7b
|
UTSW |
15 |
81,657,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5395:Zc3h7b
|
UTSW |
15 |
81,656,702 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5407:Zc3h7b
|
UTSW |
15 |
81,670,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5587:Zc3h7b
|
UTSW |
15 |
81,656,059 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5721:Zc3h7b
|
UTSW |
15 |
81,657,499 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6001:Zc3h7b
|
UTSW |
15 |
81,676,236 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6151:Zc3h7b
|
UTSW |
15 |
81,662,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6248:Zc3h7b
|
UTSW |
15 |
81,667,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6397:Zc3h7b
|
UTSW |
15 |
81,677,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6502:Zc3h7b
|
UTSW |
15 |
81,653,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7248:Zc3h7b
|
UTSW |
15 |
81,655,988 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7397:Zc3h7b
|
UTSW |
15 |
81,653,354 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7450:Zc3h7b
|
UTSW |
15 |
81,667,281 (GRCm39) |
missense |
probably benign |
|
|
R7471:Zc3h7b
|
UTSW |
15 |
81,664,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7575:Zc3h7b
|
UTSW |
15 |
81,662,086 (GRCm39) |
nonsense |
probably null |
|
|
R7645:Zc3h7b
|
UTSW |
15 |
81,664,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Zc3h7b
|
UTSW |
15 |
81,677,851 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7881:Zc3h7b
|
UTSW |
15 |
81,664,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7918:Zc3h7b
|
UTSW |
15 |
81,653,189 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8001:Zc3h7b
|
UTSW |
15 |
81,663,461 (GRCm39) |
nonsense |
probably null |
|
|
R8855:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8856:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8857:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8865:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8866:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8867:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8868:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9071:Zc3h7b
|
UTSW |
15 |
81,677,964 (GRCm39) |
makesense |
probably null |
|
|
R9136:Zc3h7b
|
UTSW |
15 |
81,653,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Zc3h7b
|
UTSW |
15 |
81,661,184 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9701:Zc3h7b
|
UTSW |
15 |
81,676,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9802:Zc3h7b
|
UTSW |
15 |
81,676,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGACCACAGTGAGATCAC -3'
(R):5'- CTAACTGGTGATTTTCCGGCC -3'
Sequencing Primer
(F):5'- GTGAGATCACAGGGTGCTG -3'
(R):5'- GGTGATTTTCCGGCCACACC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation