Incidental Mutation 'R5357:Zc3h11a'
ID |
434523 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h11a
|
Ensembl Gene |
ENSMUSG00000116275 |
Gene Name |
zinc finger CCCH type containing 11A |
Synonyms |
1110003F06Rik, G630041M05Rik, 5730454B08Rik |
MMRRC Submission |
042936-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5357 (G1)
|
Quality Score |
200 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
133547600-133589137 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 133550780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 665
(V665E)
|
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 |
probably damaging
Transcript: ENSMUST00000027736
AA Change: V665E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027736 Gene: ENSMUSG00000116275 AA Change: V665E
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 |
noncoding transcript
Transcript: ENSMUST00000191828
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191896
AA Change: V665E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141255 Gene: ENSMUSG00000102976 AA Change: V665E
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: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
T |
C |
4: 137,182,463 (GRCm39) |
V206A |
possibly damaging |
Het |
5730522E02Rik |
A |
T |
11: 25,598,148 (GRCm39) |
C102* |
probably null |
Het |
Brsk2 |
C |
A |
7: 141,538,248 (GRCm39) |
D131E |
possibly damaging |
Het |
Cacng7 |
T |
C |
7: 3,387,452 (GRCm39) |
F112L |
probably benign |
Het |
Ceacam12 |
T |
A |
7: 17,811,384 (GRCm39) |
C282* |
probably null |
Het |
Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
Dyrk1b |
T |
C |
7: 27,884,743 (GRCm39) |
V326A |
possibly damaging |
Het |
Eloa |
T |
C |
4: 135,736,559 (GRCm39) |
D563G |
probably benign |
Het |
Evi5l |
A |
G |
8: 4,253,623 (GRCm39) |
K489R |
possibly damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Galntl6 |
T |
C |
8: 58,337,497 (GRCm39) |
E326G |
probably damaging |
Het |
Gm1758 |
G |
A |
16: 14,320,218 (GRCm39) |
|
noncoding transcript |
Het |
Grm8 |
A |
T |
6: 27,762,418 (GRCm39) |
L269Q |
probably damaging |
Het |
Hsd17b12 |
A |
G |
2: 93,863,990 (GRCm39) |
I284T |
possibly damaging |
Het |
Hyal6 |
T |
A |
6: 24,734,517 (GRCm39) |
M150K |
probably benign |
Het |
Ift80 |
T |
A |
3: 68,898,113 (GRCm39) |
Q74L |
possibly damaging |
Het |
Krt76 |
T |
C |
15: 101,795,820 (GRCm39) |
K450R |
probably benign |
Het |
Larp1b |
A |
G |
3: 40,978,950 (GRCm39) |
E2G |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Map2k7 |
A |
T |
8: 4,294,461 (GRCm39) |
H253L |
probably damaging |
Het |
Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
Mmp2 |
A |
G |
8: 93,559,780 (GRCm39) |
T248A |
possibly damaging |
Het |
Mt1 |
T |
A |
8: 94,906,732 (GRCm39) |
C33S |
probably damaging |
Het |
Obox5 |
T |
A |
7: 15,491,463 (GRCm39) |
M1K |
probably null |
Het |
Pak4 |
A |
G |
7: 28,263,831 (GRCm39) |
S302P |
probably damaging |
Het |
Pcsk2 |
T |
C |
2: 143,415,384 (GRCm39) |
Y66H |
probably benign |
Het |
Pgm3 |
G |
A |
9: 86,438,310 (GRCm39) |
R451* |
probably null |
Het |
Phf10 |
A |
T |
17: 15,174,275 (GRCm39) |
|
probably null |
Het |
Pkd1 |
T |
G |
17: 24,784,764 (GRCm39) |
V402G |
probably damaging |
Het |
Plekha4 |
G |
T |
7: 45,184,195 (GRCm39) |
V61F |
probably damaging |
Het |
Ppfia2 |
G |
A |
10: 106,740,708 (GRCm39) |
|
probably null |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Skil |
A |
G |
3: 31,167,700 (GRCm39) |
H444R |
probably benign |
Het |
Tcn2 |
T |
G |
11: 3,876,017 (GRCm39) |
D137A |
possibly damaging |
Het |
Tnks2 |
G |
A |
19: 36,826,690 (GRCm39) |
|
silent |
Het |
Trh |
T |
A |
6: 92,219,815 (GRCm39) |
D167V |
probably benign |
Het |
Tshz1 |
C |
T |
18: 84,033,205 (GRCm39) |
G401D |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubqlnl |
T |
A |
7: 103,798,138 (GRCm39) |
Q453L |
probably damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,767,083 (GRCm39) |
K805* |
probably null |
Het |
Wnt16 |
T |
G |
6: 22,291,231 (GRCm39) |
|
probably benign |
Het |
Zfp456 |
A |
T |
13: 67,520,328 (GRCm39) |
M63K |
possibly damaging |
Het |
Zzef1 |
C |
T |
11: 72,734,159 (GRCm39) |
Q584* |
probably null |
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 |
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 |
R8485:Zc3h11a
|
UTSW |
1 |
133,553,633 (GRCm39) |
missense |
possibly damaging |
0.75 |
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'- TAAGTAAGTAAAGGGGCTTCAGATC -3'
(R):5'- GGCATTGAATCTTATTCTGAGCTGC -3'
Sequencing Primer
(F):5'- AGGGGCTTCAGATCTTCAAC -3'
(R):5'- CTTATTCTGAGCTGCTCAATATGTG -3'
|
Posted On |
2016-10-06 |