Incidental Mutation 'R1565:Zc3h7b'
| ID |
175225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7b
|
| Ensembl Gene |
ENSMUSG00000022390 |
| Gene Name |
zinc finger CCCH type containing 7B |
| Synonyms |
Scrg3 |
| MMRRC Submission |
039604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R1565 (G1)
|
| Quality Score |
174 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81745057-81796260 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81777088 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 376
(P376L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109554]
[ENSMUST00000230946]
|
| AlphaFold |
F8VPP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109554
AA Change: P376L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: P376L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230590
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230946
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231108
|
| Meta Mutation Damage Score |
0.0709 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.0%
|
| Validation Efficiency |
96% (82/85) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,880,501 (GRCm38) |
G270S |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,836,554 (GRCm38) |
T401A |
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,270,897 (GRCm38) |
M148K |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,268,957 (GRCm38) |
E508G |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,757,318 (GRCm38) |
L875H |
probably damaging |
Het |
| Cacng3 |
A |
T |
7: 122,768,401 (GRCm38) |
D168V |
probably damaging |
Het |
| Clpb |
G |
A |
7: 101,785,461 (GRCm38) |
R488Q |
probably benign |
Het |
| Cpxm2 |
A |
T |
7: 132,062,145 (GRCm38) |
Y350N |
probably damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,303,160 (GRCm38) |
*406R |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,829,614 (GRCm38) |
D4236E |
probably damaging |
Het |
| Dpf3 |
T |
A |
12: 83,370,617 (GRCm38) |
Y27F |
probably damaging |
Het |
| Esp4 |
T |
C |
17: 40,602,595 (GRCm38) |
*118Q |
probably null |
Het |
| Fam222b |
T |
C |
11: 78,154,662 (GRCm38) |
S222P |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,455,171 (GRCm38) |
V1933A |
probably damaging |
Het |
| Gem |
T |
C |
4: 11,713,709 (GRCm38) |
F282L |
possibly damaging |
Het |
| Gli2 |
T |
C |
1: 118,841,930 (GRCm38) |
T631A |
possibly damaging |
Het |
| Gm13088 |
G |
A |
4: 143,655,617 (GRCm38) |
Q170* |
probably null |
Het |
| Gpld1 |
T |
A |
13: 24,956,068 (GRCm38) |
V116E |
probably damaging |
Het |
| Gpr176 |
A |
G |
2: 118,280,214 (GRCm38) |
M188T |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,089,972 (GRCm38) |
V489A |
probably damaging |
Het |
| H2-Ke6 |
C |
T |
17: 34,027,495 (GRCm38) |
V105I |
possibly damaging |
Het |
| Hpdl |
T |
C |
4: 116,820,883 (GRCm38) |
N127S |
probably damaging |
Het |
| Id4 |
G |
T |
13: 48,262,294 (GRCm38) |
V151L |
possibly damaging |
Het |
| Kcnh8 |
G |
T |
17: 52,956,881 (GRCm38) |
G802V |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,242,743 (GRCm38) |
S894I |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,972,384 (GRCm38) |
N184S |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,519,821 (GRCm38) |
S226T |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 101,887,521 (GRCm38) |
Q472L |
probably damaging |
Het |
| Mog |
G |
C |
17: 37,017,582 (GRCm38) |
N152K |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 138,116,405 (GRCm38) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,252,509 (GRCm38) |
V953A |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,340,280 (GRCm38) |
Y509F |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,315,192 (GRCm38) |
N303S |
possibly damaging |
Het |
| Nek3 |
T |
C |
8: 22,132,201 (GRCm38) |
|
probably null |
Het |
| Nlrc4 |
A |
T |
17: 74,441,931 (GRCm38) |
D771E |
probably benign |
Het |
| Nup160 |
A |
T |
2: 90,722,061 (GRCm38) |
N1127I |
possibly damaging |
Het |
| Oas1h |
A |
T |
5: 120,862,600 (GRCm38) |
N91I |
probably damaging |
Het |
| Olfr1225 |
A |
T |
2: 89,170,627 (GRCm38) |
V195D |
probably benign |
Het |
| Olfr1226 |
G |
T |
2: 89,193,883 (GRCm38) |
S50R |
probably damaging |
Het |
| Olfr1342 |
T |
A |
4: 118,690,192 (GRCm38) |
N87Y |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,589,872 (GRCm38) |
|
probably benign |
Het |
| Pi4ka |
G |
A |
16: 17,281,900 (GRCm38) |
C96Y |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,549 (GRCm38) |
F47Y |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,347,457 (GRCm38) |
G2490V |
probably damaging |
Het |
| Plekhg1 |
C |
T |
10: 3,940,526 (GRCm38) |
T394I |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,091,997 (GRCm38) |
|
probably benign |
Het |
| Rab3ip |
A |
T |
10: 116,939,223 (GRCm38) |
C77S |
probably benign |
Het |
| Reln |
A |
T |
5: 21,925,213 (GRCm38) |
M2700K |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,073,946 (GRCm38) |
T59A |
probably benign |
Het |
| Ric8b |
G |
T |
10: 84,980,099 (GRCm38) |
V405L |
probably benign |
Het |
| Rufy3 |
G |
T |
5: 88,640,632 (GRCm38) |
A479S |
probably damaging |
Het |
| Sardh |
A |
T |
2: 27,242,719 (GRCm38) |
Y166N |
probably damaging |
Het |
| Slamf6 |
T |
G |
1: 171,934,408 (GRCm38) |
V132G |
possibly damaging |
Het |
| Slc12a3 |
T |
G |
8: 94,345,877 (GRCm38) |
H674Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,281,654 (GRCm38) |
V830M |
possibly damaging |
Het |
| Srsf9 |
A |
G |
5: 115,327,370 (GRCm38) |
N21S |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,950,090 (GRCm38) |
T391S |
probably benign |
Het |
| Sumf2 |
C |
A |
5: 129,859,914 (GRCm38) |
N230K |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,235,569 (GRCm38) |
V22A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,596,041 (GRCm38) |
S194T |
possibly damaging |
Het |
| Tmem27 |
A |
G |
X: 164,118,234 (GRCm38) |
D184G |
possibly damaging |
Het |
| Tnn |
T |
A |
1: 160,097,265 (GRCm38) |
Y1173F |
probably damaging |
Het |
| Top2a |
A |
G |
11: 99,001,054 (GRCm38) |
F1122L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 73,025,967 (GRCm38) |
R377W |
probably damaging |
Het |
| Trim39 |
G |
A |
17: 36,268,854 (GRCm38) |
R70W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,794,261 (GRCm38) |
T15289I |
probably damaging |
Het |
| Ugt2b38 |
A |
T |
5: 87,411,914 (GRCm38) |
V373E |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,607,159 (GRCm38) |
S24P |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,231,634 (GRCm38) |
G51S |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,667,594 (GRCm38) |
A579T |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,952,427 (GRCm38) |
S247P |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,853,039 (GRCm38) |
R613K |
possibly damaging |
Het |
| Zfp251 |
T |
A |
15: 76,853,038 (GRCm38) |
R613S |
probably damaging |
Het |
| Zfp91 |
T |
C |
19: 12,779,075 (GRCm38) |
D135G |
probably benign |
Het |
|
| Other mutations in Zc3h7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Zc3h7b
|
APN |
15 |
81,771,799 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01955:Zc3h7b
|
APN |
15 |
81,792,004 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02526:Zc3h7b
|
APN |
15 |
81,793,137 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02582:Zc3h7b
|
APN |
15 |
81,769,140 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02736:Zc3h7b
|
APN |
15 |
81,791,974 (GRCm38) |
missense |
probably benign |
0.02 |
|
F6893:Zc3h7b
|
UTSW |
15 |
81,778,671 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0212:Zc3h7b
|
UTSW |
15 |
81,776,328 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0242:Zc3h7b
|
UTSW |
15 |
81,768,830 (GRCm38) |
splice site |
probably benign |
|
|
R0471:Zc3h7b
|
UTSW |
15 |
81,781,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0590:Zc3h7b
|
UTSW |
15 |
81,776,998 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R1530:Zc3h7b
|
UTSW |
15 |
81,777,088 (GRCm38) |
missense |
probably benign |
|
|
R1563:Zc3h7b
|
UTSW |
15 |
81,777,088 (GRCm38) |
missense |
probably benign |
|
|
R1566:Zc3h7b
|
UTSW |
15 |
81,768,834 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1670:Zc3h7b
|
UTSW |
15 |
81,777,067 (GRCm38) |
missense |
probably benign |
|
|
R1712:Zc3h7b
|
UTSW |
15 |
81,777,088 (GRCm38) |
missense |
probably benign |
|
|
R1727:Zc3h7b
|
UTSW |
15 |
81,768,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2069:Zc3h7b
|
UTSW |
15 |
81,792,328 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2375:Zc3h7b
|
UTSW |
15 |
81,792,502 (GRCm38) |
missense |
probably benign |
0.17 |
|
R2656:Zc3h7b
|
UTSW |
15 |
81,780,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4660:Zc3h7b
|
UTSW |
15 |
81,792,250 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4764:Zc3h7b
|
UTSW |
15 |
81,769,183 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4815:Zc3h7b
|
UTSW |
15 |
81,793,663 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4999:Zc3h7b
|
UTSW |
15 |
81,779,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5086:Zc3h7b
|
UTSW |
15 |
81,793,174 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5169:Zc3h7b
|
UTSW |
15 |
81,773,314 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5395:Zc3h7b
|
UTSW |
15 |
81,772,501 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5407:Zc3h7b
|
UTSW |
15 |
81,785,891 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5587:Zc3h7b
|
UTSW |
15 |
81,771,858 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5721:Zc3h7b
|
UTSW |
15 |
81,773,298 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6001:Zc3h7b
|
UTSW |
15 |
81,792,035 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6151:Zc3h7b
|
UTSW |
15 |
81,778,710 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6248:Zc3h7b
|
UTSW |
15 |
81,783,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6397:Zc3h7b
|
UTSW |
15 |
81,792,854 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6502:Zc3h7b
|
UTSW |
15 |
81,769,051 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7248:Zc3h7b
|
UTSW |
15 |
81,771,787 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7397:Zc3h7b
|
UTSW |
15 |
81,769,153 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R7450:Zc3h7b
|
UTSW |
15 |
81,783,080 (GRCm38) |
missense |
probably benign |
|
|
R7471:Zc3h7b
|
UTSW |
15 |
81,780,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7575:Zc3h7b
|
UTSW |
15 |
81,777,885 (GRCm38) |
nonsense |
probably null |
|
|
R7645:Zc3h7b
|
UTSW |
15 |
81,780,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7650:Zc3h7b
|
UTSW |
15 |
81,793,650 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7881:Zc3h7b
|
UTSW |
15 |
81,780,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7918:Zc3h7b
|
UTSW |
15 |
81,768,988 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8001:Zc3h7b
|
UTSW |
15 |
81,779,260 (GRCm38) |
nonsense |
probably null |
|
|
R8504:Zc3h7b
|
UTSW |
15 |
81,780,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8855:Zc3h7b
|
UTSW |
15 |
81,772,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8856:Zc3h7b
|
UTSW |
15 |
81,772,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8857:Zc3h7b
|
UTSW |
15 |
81,772,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8865:Zc3h7b
|
UTSW |
15 |
81,772,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8866:Zc3h7b
|
UTSW |
15 |
81,772,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8867:Zc3h7b
|
UTSW |
15 |
81,772,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8868:Zc3h7b
|
UTSW |
15 |
81,772,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9071:Zc3h7b
|
UTSW |
15 |
81,793,763 (GRCm38) |
makesense |
probably null |
|
|
R9136:Zc3h7b
|
UTSW |
15 |
81,769,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9169:Zc3h7b
|
UTSW |
15 |
81,776,983 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9701:Zc3h7b
|
UTSW |
15 |
81,792,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9802:Zc3h7b
|
UTSW |
15 |
81,792,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGAATGTCATACCCACACGG -3'
(R):5'- TGATCTAGAGTGAGACATCCAGCCC -3'
Sequencing Primer
(F):5'- GTATGCCTAGTGAGCTGCCTC -3'
(R):5'- CTCAAGCTCAGGAAGTGCTG -3'
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| Posted On |
2014-04-24 |
Incidental Mutation