Incidental Mutation 'R8485:Zc3h11a'
ID |
657659 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h11a
|
Ensembl Gene |
ENSMUSG00000116275 |
Gene Name |
zinc finger CCCH type containing 11A |
Synonyms |
1110003F06Rik, G630041M05Rik, 5730454B08Rik |
MMRRC Submission |
067928-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8485 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133547600-133589137 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 133553633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 504
(S504C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027736]
[ENSMUST00000179598]
[ENSMUST00000186476]
[ENSMUST00000191896]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027736
AA Change: S504C
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000027736 Gene: ENSMUSG00000116275 AA Change: S504C
Domain | Start | End | E-Value | Type |
ZnF_C3H1
|
3 |
28 |
4.26e-1 |
SMART |
ZnF_C3H1
|
31 |
56 |
7.62e0 |
SMART |
ZnF_C3H1
|
60 |
86 |
6.83e1 |
SMART |
low complexity region
|
161 |
176 |
N/A |
INTRINSIC |
low complexity region
|
218 |
241 |
N/A |
INTRINSIC |
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
low complexity region
|
625 |
647 |
N/A |
INTRINSIC |
low complexity region
|
717 |
730 |
N/A |
INTRINSIC |
low complexity region
|
770 |
788 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179598
|
SMART Domains |
Protein: ENSMUSP00000136026 Gene: ENSMUSG00000094410
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
84 |
N/A |
INTRINSIC |
ZnF_BED
|
130 |
183 |
1.42e-8 |
SMART |
low complexity region
|
203 |
215 |
N/A |
INTRINSIC |
ZnF_BED
|
265 |
318 |
5.37e-9 |
SMART |
low complexity region
|
840 |
862 |
N/A |
INTRINSIC |
Pfam:Dimer_Tnp_hAT
|
869 |
950 |
9.3e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186476
|
SMART Domains |
Protein: ENSMUSP00000139417 Gene: ENSMUSG00000094410
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
84 |
N/A |
INTRINSIC |
ZnF_BED
|
130 |
183 |
1.42e-8 |
SMART |
low complexity region
|
203 |
215 |
N/A |
INTRINSIC |
ZnF_BED
|
265 |
318 |
5.37e-9 |
SMART |
low complexity region
|
840 |
862 |
N/A |
INTRINSIC |
Pfam:Dimer_Tnp_hAT
|
869 |
950 |
1.9e-12 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191896
AA Change: S504C
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141255 Gene: ENSMUSG00000102976 AA Change: S504C
Domain | Start | End | E-Value | Type |
ZnF_C3H1
|
3 |
28 |
4.26e-1 |
SMART |
ZnF_C3H1
|
31 |
56 |
7.62e0 |
SMART |
ZnF_C3H1
|
60 |
86 |
6.83e1 |
SMART |
low complexity region
|
161 |
176 |
N/A |
INTRINSIC |
low complexity region
|
218 |
241 |
N/A |
INTRINSIC |
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
low complexity region
|
625 |
647 |
N/A |
INTRINSIC |
low complexity region
|
717 |
730 |
N/A |
INTRINSIC |
low complexity region
|
770 |
788 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195669
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp6 |
A |
G |
3: 97,066,302 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,886,794 (GRCm39) |
T999A |
possibly damaging |
Het |
Adgrb1 |
A |
C |
15: 74,420,153 (GRCm39) |
T829P |
probably damaging |
Het |
Ankrd12 |
C |
T |
17: 66,290,711 (GRCm39) |
S1574N |
probably benign |
Het |
Ankrd2 |
G |
A |
19: 42,030,384 (GRCm39) |
|
probably null |
Het |
Ano3 |
T |
A |
2: 110,498,200 (GRCm39) |
|
probably null |
Het |
Arhgap18 |
T |
C |
10: 26,722,104 (GRCm39) |
I25T |
probably benign |
Het |
Armc3 |
T |
C |
2: 19,297,945 (GRCm39) |
F572S |
probably damaging |
Het |
Aspdh |
G |
T |
7: 44,117,093 (GRCm39) |
G165W |
probably damaging |
Het |
Btnl10 |
G |
T |
11: 58,811,142 (GRCm39) |
R155L |
possibly damaging |
Het |
Cacng7 |
A |
G |
7: 3,414,541 (GRCm39) |
E168G |
probably benign |
Het |
Cadps |
G |
A |
14: 12,439,872 (GRCm38) |
T1215M |
probably damaging |
Het |
Cbfa2t3 |
C |
A |
8: 123,357,517 (GRCm39) |
G598C |
probably damaging |
Het |
Cdh15 |
T |
C |
8: 123,584,105 (GRCm39) |
S69P |
probably damaging |
Het |
Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
Dlec1 |
T |
G |
9: 118,957,659 (GRCm39) |
V881G |
probably benign |
Het |
Dnah7c |
A |
C |
1: 46,719,952 (GRCm39) |
D2801A |
probably benign |
Het |
Efhc1 |
T |
C |
1: 21,030,460 (GRCm39) |
M131T |
possibly damaging |
Het |
Ercc2 |
G |
A |
7: 19,122,165 (GRCm39) |
V386I |
possibly damaging |
Het |
Exoc4 |
T |
A |
6: 33,898,436 (GRCm39) |
I885N |
probably damaging |
Het |
Fbxl22 |
C |
T |
9: 66,421,849 (GRCm39) |
|
probably null |
Het |
Flii |
G |
T |
11: 60,607,063 (GRCm39) |
A971E |
probably benign |
Het |
Fnip2 |
T |
A |
3: 79,388,844 (GRCm39) |
E599V |
probably benign |
Het |
Glb1l2 |
G |
A |
9: 26,679,036 (GRCm39) |
L453F |
probably benign |
Het |
Gm49368 |
C |
T |
7: 127,711,611 (GRCm39) |
P624L |
probably damaging |
Het |
Gpa33 |
T |
A |
1: 165,992,261 (GRCm39) |
D268E |
probably benign |
Het |
Gpi1 |
A |
T |
7: 33,918,677 (GRCm39) |
|
probably null |
Het |
Iqgap2 |
T |
C |
13: 95,796,659 (GRCm39) |
N1165S |
probably damaging |
Het |
Irag2 |
A |
T |
6: 145,117,400 (GRCm39) |
N379I |
probably damaging |
Het |
Kctd2 |
G |
T |
11: 115,320,434 (GRCm39) |
|
probably benign |
Het |
L1td1 |
C |
T |
4: 98,625,911 (GRCm39) |
A702V |
probably damaging |
Het |
Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
Mycbpap |
A |
G |
11: 94,402,534 (GRCm39) |
L267P |
probably damaging |
Het |
Mycbpap |
T |
C |
11: 94,405,359 (GRCm39) |
R57G |
probably benign |
Het |
Myo1b |
A |
C |
1: 51,818,760 (GRCm39) |
L505R |
probably damaging |
Het |
Nfatc2 |
A |
C |
2: 168,432,012 (GRCm39) |
F34V |
probably damaging |
Het |
Nphs1 |
A |
G |
7: 30,165,598 (GRCm39) |
N655S |
probably damaging |
Het |
Nsd2 |
A |
T |
5: 34,040,189 (GRCm39) |
I909F |
probably damaging |
Het |
Or10ag60 |
A |
T |
2: 87,438,601 (GRCm39) |
M290L |
probably benign |
Het |
Or8b37 |
T |
A |
9: 37,959,253 (GRCm39) |
M245K |
probably benign |
Het |
Pak2 |
G |
A |
16: 31,871,083 (GRCm39) |
A33V |
probably benign |
Het |
Phb1 |
A |
G |
11: 95,566,055 (GRCm39) |
D113G |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,593,257 (GRCm39) |
I1619F |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,423,796 (GRCm39) |
I3113V |
probably damaging |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Prrc2b |
T |
A |
2: 32,102,105 (GRCm39) |
M726K |
possibly damaging |
Het |
Rai14 |
A |
G |
15: 10,575,122 (GRCm39) |
L612P |
probably damaging |
Het |
Rapgef1 |
T |
C |
2: 29,600,186 (GRCm39) |
S598P |
probably damaging |
Het |
Rdm1 |
G |
A |
11: 101,518,816 (GRCm39) |
V8I |
probably benign |
Het |
Rrbp1 |
A |
G |
2: 143,796,933 (GRCm39) |
F1148L |
probably benign |
Het |
Slc12a2 |
T |
C |
18: 58,074,218 (GRCm39) |
|
probably null |
Het |
Slc7a8 |
T |
A |
14: 54,962,264 (GRCm39) |
T457S |
probably benign |
Het |
Stk32a |
T |
A |
18: 43,376,075 (GRCm39) |
M48K |
possibly damaging |
Het |
Svil |
T |
C |
18: 5,064,566 (GRCm39) |
S642P |
probably benign |
Het |
Taok3 |
G |
A |
5: 117,389,142 (GRCm39) |
V516M |
possibly damaging |
Het |
Ugdh |
T |
C |
5: 65,584,902 (GRCm39) |
I7V |
possibly damaging |
Het |
Zfp512 |
C |
T |
5: 31,637,401 (GRCm39) |
R497W |
probably damaging |
Het |
|
Other mutations in Zc3h11a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01329:Zc3h11a
|
APN |
1 |
133,553,600 (GRCm39) |
missense |
probably benign |
|
IGL01961:Zc3h11a
|
APN |
1 |
133,554,805 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02005:Zc3h11a
|
APN |
1 |
133,549,880 (GRCm39) |
missense |
probably benign |
|
IGL02365:Zc3h11a
|
APN |
1 |
133,565,151 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02454:Zc3h11a
|
APN |
1 |
133,552,254 (GRCm39) |
missense |
probably benign |
0.09 |
PIT4449001:Zc3h11a
|
UTSW |
1 |
133,552,349 (GRCm39) |
missense |
probably benign |
0.22 |
R0180:Zc3h11a
|
UTSW |
1 |
133,549,349 (GRCm39) |
missense |
probably benign |
0.11 |
R0965:Zc3h11a
|
UTSW |
1 |
133,573,541 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1389:Zc3h11a
|
UTSW |
1 |
133,561,541 (GRCm39) |
missense |
probably damaging |
0.99 |
R1607:Zc3h11a
|
UTSW |
1 |
133,552,425 (GRCm39) |
missense |
probably benign |
|
R1639:Zc3h11a
|
UTSW |
1 |
133,552,446 (GRCm39) |
missense |
probably benign |
0.03 |
R1720:Zc3h11a
|
UTSW |
1 |
133,549,439 (GRCm39) |
missense |
probably damaging |
0.97 |
R1728:Zc3h11a
|
UTSW |
1 |
133,552,359 (GRCm39) |
missense |
probably benign |
0.20 |
R1728:Zc3h11a
|
UTSW |
1 |
133,549,892 (GRCm39) |
missense |
probably benign |
|
R1729:Zc3h11a
|
UTSW |
1 |
133,549,892 (GRCm39) |
missense |
probably benign |
|
R1730:Zc3h11a
|
UTSW |
1 |
133,552,359 (GRCm39) |
missense |
probably benign |
0.20 |
R1730:Zc3h11a
|
UTSW |
1 |
133,549,892 (GRCm39) |
missense |
probably benign |
|
R1739:Zc3h11a
|
UTSW |
1 |
133,552,359 (GRCm39) |
missense |
probably benign |
0.20 |
R1739:Zc3h11a
|
UTSW |
1 |
133,549,892 (GRCm39) |
missense |
probably benign |
|
R1762:Zc3h11a
|
UTSW |
1 |
133,552,359 (GRCm39) |
missense |
probably benign |
0.20 |
R1762:Zc3h11a
|
UTSW |
1 |
133,549,892 (GRCm39) |
missense |
probably benign |
|
R1783:Zc3h11a
|
UTSW |
1 |
133,552,359 (GRCm39) |
missense |
probably benign |
0.20 |
R1783:Zc3h11a
|
UTSW |
1 |
133,549,892 (GRCm39) |
missense |
probably benign |
|
R1784:Zc3h11a
|
UTSW |
1 |
133,552,359 (GRCm39) |
missense |
probably benign |
0.20 |
R1784:Zc3h11a
|
UTSW |
1 |
133,549,892 (GRCm39) |
missense |
probably benign |
|
R1785:Zc3h11a
|
UTSW |
1 |
133,549,892 (GRCm39) |
missense |
probably benign |
|
R1785:Zc3h11a
|
UTSW |
1 |
133,552,359 (GRCm39) |
missense |
probably benign |
0.20 |
R2508:Zc3h11a
|
UTSW |
1 |
133,552,521 (GRCm39) |
missense |
probably benign |
0.01 |
R4792:Zc3h11a
|
UTSW |
1 |
133,568,436 (GRCm39) |
missense |
probably damaging |
0.98 |
R4901:Zc3h11a
|
UTSW |
1 |
133,552,449 (GRCm39) |
missense |
probably benign |
0.00 |
R4932:Zc3h11a
|
UTSW |
1 |
133,552,350 (GRCm39) |
missense |
probably benign |
0.00 |
R5135:Zc3h11a
|
UTSW |
1 |
133,561,527 (GRCm39) |
missense |
probably benign |
0.00 |
R5186:Zc3h11a
|
UTSW |
1 |
133,549,412 (GRCm39) |
missense |
probably damaging |
0.99 |
R5357:Zc3h11a
|
UTSW |
1 |
133,550,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R5438:Zc3h11a
|
UTSW |
1 |
133,568,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R6149:Zc3h11a
|
UTSW |
1 |
133,566,613 (GRCm39) |
nonsense |
probably null |
|
R6268:Zc3h11a
|
UTSW |
1 |
133,552,295 (GRCm39) |
missense |
probably benign |
0.01 |
R6385:Zc3h11a
|
UTSW |
1 |
133,565,192 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6847:Zc3h11a
|
UTSW |
1 |
133,566,700 (GRCm39) |
splice site |
probably null |
|
R7107:Zc3h11a
|
UTSW |
1 |
133,566,655 (GRCm39) |
missense |
probably damaging |
0.96 |
R7543:Zc3h11a
|
UTSW |
1 |
133,554,768 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7693:Zc3h11a
|
UTSW |
1 |
133,573,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R7742:Zc3h11a
|
UTSW |
1 |
133,565,173 (GRCm39) |
missense |
probably benign |
0.01 |
R8911:Zc3h11a
|
UTSW |
1 |
133,566,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R9539:Zc3h11a
|
UTSW |
1 |
133,554,927 (GRCm39) |
missense |
probably benign |
0.06 |
RF018:Zc3h11a
|
UTSW |
1 |
133,554,853 (GRCm39) |
missense |
possibly damaging |
0.66 |
RF020:Zc3h11a
|
UTSW |
1 |
133,554,735 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCAGGCAGATTGAGATACATAG -3'
(R):5'- GCCAGTCTCTTAGCTATGAAGTTTT -3'
Sequencing Primer
(F):5'- TGTCTCCAAAAATCTCAAAAACAAAC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
Posted On |
2021-01-18 |