Incidental Mutation 'R4901:Zc3h11a'
| ID |
376132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h11a
|
| Ensembl Gene |
ENSMUSG00000116275 |
| Gene Name |
zinc finger CCCH type containing 11A |
| Synonyms |
1110003F06Rik, G630041M05Rik, 5730454B08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4901 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
133547600-133589137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133552449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 553
(S553P)
|
| 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 benign
Transcript: ENSMUST00000027736
AA Change: S553P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000027736
Gene: ENSMUSG00000116275
AA Change: S553P
| 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 benign
Transcript: ENSMUST00000191896
AA Change: S553P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000141255
Gene: ENSMUSG00000102976
AA Change: S553P
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
C |
T |
9: 44,188,954 (GRCm39) |
|
probably null |
Het |
| Arg2 |
T |
C |
12: 79,194,485 (GRCm39) |
V103A |
probably damaging |
Het |
| Bicra |
T |
A |
7: 15,721,526 (GRCm39) |
T664S |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 107,001,686 (GRCm39) |
Y475* |
probably null |
Het |
| Calcrl |
T |
C |
2: 84,163,857 (GRCm39) |
I445V |
probably benign |
Het |
| Ccdc110 |
G |
A |
8: 46,396,437 (GRCm39) |
R776Q |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,727,894 (GRCm39) |
N4S |
probably damaging |
Het |
| Ccni |
G |
A |
5: 93,331,003 (GRCm39) |
R323W |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,314,303 (GRCm39) |
M1241L |
possibly damaging |
Het |
| Cpd |
T |
C |
11: 76,681,707 (GRCm39) |
I1145M |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,367,323 (GRCm39) |
D265V |
probably benign |
Het |
| Dennd2a |
T |
C |
6: 39,499,621 (GRCm39) |
T315A |
probably benign |
Het |
| Dgkz |
T |
A |
2: 91,767,076 (GRCm39) |
Q905L |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,059,688 (GRCm39) |
|
probably null |
Het |
| Elp2 |
A |
G |
18: 24,752,542 (GRCm39) |
H365R |
probably damaging |
Het |
| Gm136 |
G |
A |
4: 34,746,580 (GRCm39) |
Q144* |
probably null |
Het |
| Gon4l |
T |
C |
3: 88,815,458 (GRCm39) |
V2008A |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Isyna1 |
A |
T |
8: 71,049,246 (GRCm39) |
H414L |
probably damaging |
Het |
| Kif20b |
A |
G |
19: 34,911,836 (GRCm39) |
Y233C |
probably benign |
Het |
| Klk1 |
A |
T |
7: 43,878,139 (GRCm39) |
I132F |
probably damaging |
Het |
| Klre1 |
A |
T |
6: 129,561,188 (GRCm39) |
H183L |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,711,657 (GRCm39) |
T3188A |
probably damaging |
Het |
| Mapk12 |
A |
T |
15: 89,018,841 (GRCm39) |
L198* |
probably null |
Het |
| Mt4 |
A |
C |
8: 94,864,912 (GRCm39) |
T29P |
possibly damaging |
Het |
| Myh14 |
C |
T |
7: 44,310,464 (GRCm39) |
V140I |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,314,659 (GRCm39) |
Q269R |
possibly damaging |
Het |
| Or4p23 |
C |
G |
2: 88,577,231 (GRCm39) |
|
probably null |
Het |
| Or51e1 |
A |
G |
7: 102,359,405 (GRCm39) |
H313R |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,435,112 (GRCm39) |
I421V |
probably null |
Het |
| Pde3b |
A |
T |
7: 114,107,425 (GRCm39) |
T519S |
probably damaging |
Het |
| Phf21a |
T |
A |
2: 92,187,346 (GRCm39) |
C178* |
probably null |
Het |
| Phtf2 |
A |
G |
5: 21,010,722 (GRCm39) |
S88P |
possibly damaging |
Het |
| Pik3c3 |
A |
G |
18: 30,435,982 (GRCm39) |
M394V |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,934,027 (GRCm39) |
P752S |
probably benign |
Het |
| Pp2d1 |
C |
A |
17: 53,822,037 (GRCm39) |
G343V |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,143,272 (GRCm39) |
I140V |
possibly damaging |
Het |
| Ppp6r3 |
C |
A |
19: 3,517,229 (GRCm39) |
V75L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,524,275 (GRCm39) |
H486L |
probably benign |
Het |
| Rasgrf1 |
C |
T |
9: 89,877,056 (GRCm39) |
T807M |
probably benign |
Het |
| Rasgrp3 |
C |
A |
17: 75,821,111 (GRCm39) |
Y439* |
probably null |
Het |
| Rbm44 |
A |
G |
1: 91,081,050 (GRCm39) |
T413A |
probably benign |
Het |
| Rnf135 |
T |
C |
11: 80,089,662 (GRCm39) |
C333R |
probably damaging |
Het |
| Scfd2 |
A |
G |
5: 74,680,226 (GRCm39) |
V309A |
probably damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,585,701 (GRCm39) |
S70G |
probably benign |
Het |
| Serpina3m |
A |
T |
12: 104,355,908 (GRCm39) |
K192* |
probably null |
Het |
| Sft2d1rt |
A |
G |
11: 45,942,656 (GRCm39) |
S156P |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,506 (GRCm39) |
I756V |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,702,648 (GRCm39) |
V516A |
probably damaging |
Het |
| Sult2a5 |
T |
A |
7: 13,359,188 (GRCm39) |
C55S |
probably benign |
Het |
| Tars3 |
C |
T |
7: 65,341,042 (GRCm39) |
T783M |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,172,805 (GRCm39) |
I1819N |
possibly damaging |
Het |
| Timeless |
T |
C |
10: 128,086,631 (GRCm39) |
F1057L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,628,418 (GRCm39) |
I12835F |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,617,834 (GRCm39) |
D185E |
probably benign |
Het |
| Vmn2r74 |
G |
T |
7: 85,605,199 (GRCm39) |
S483* |
probably null |
Het |
| Xpo1 |
A |
T |
11: 23,231,327 (GRCm39) |
I304F |
possibly damaging |
Het |
| Zdhhc1 |
A |
G |
8: 106,199,484 (GRCm39) |
S402P |
probably benign |
Het |
| Zwilch |
T |
C |
9: 64,070,028 (GRCm39) |
Y101C |
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 |
|
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 |
|
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'- AGTATTGAGTCCCCGATTCCG -3'
(R):5'- GTGTTAGCAAATAGTGAGCCTCC -3'
Sequencing Primer
(F):5'- CTTTCTGGGATGACTCCA -3'
(R):5'- GCAAATAGTGAGCCTCCTCTTTATG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation