Incidental Mutation 'R7742:Zc3h11a'
| ID |
596582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h11a
|
| Ensembl Gene |
ENSMUSG00000116275 |
| Gene Name |
zinc finger CCCH type containing 11A |
| Synonyms |
1110003F06Rik, G630041M05Rik, 5730454B08Rik |
| MMRRC Submission |
045798-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7742 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133547600-133589137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133565173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 242
(V242A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027736]
[ENSMUST00000179598]
[ENSMUST00000186476]
[ENSMUST00000191896]
[ENSMUST00000193504]
[ENSMUST00000194668]
[ENSMUST00000195424]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027736
AA Change: V242A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000027736
Gene: ENSMUSG00000116275
AA Change: V242A
| 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 |
probably benign
Transcript: ENSMUST00000191896
AA Change: V242A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141255
Gene: ENSMUSG00000102976
AA Change: V242A
| 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: ENSMUST00000193504
|
| SMART Domains |
Protein: ENSMUSP00000141895
Gene: ENSMUSG00000102976
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
3 |
28 |
1.8e-3 |
SMART |
|
ZnF_C3H1
|
31 |
56 |
3.2e-2 |
SMART |
|
Blast:ZnF_C3H1
|
60 |
84 |
2e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194668
|
| SMART Domains |
Protein: ENSMUSP00000141727
Gene: ENSMUSG00000102976
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
3 |
28 |
1.8e-3 |
SMART |
|
ZnF_C3H1
|
31 |
56 |
3.2e-2 |
SMART |
|
ZnF_C3H1
|
60 |
86 |
2.9e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195424
|
| SMART Domains |
Protein: ENSMUSP00000142066
Gene: ENSMUSG00000102976
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
3 |
28 |
1.8e-3 |
SMART |
|
ZnF_C3H1
|
31 |
56 |
3.2e-2 |
SMART |
|
ZnF_C3H1
|
60 |
86 |
2.9e-1 |
SMART |
|
low complexity region
|
161 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,714 (GRCm39) |
K417R |
possibly damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,542,064 (GRCm39) |
I886N |
probably damaging |
Het |
| Angptl2 |
A |
G |
2: 33,133,928 (GRCm39) |
T417A |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,367,538 (GRCm39) |
M1V |
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,384,161 (GRCm39) |
H1155R |
unknown |
Het |
| Csad |
A |
G |
15: 102,095,599 (GRCm39) |
S153P |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
| Dmtf1 |
C |
T |
5: 9,172,457 (GRCm39) |
|
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,809,073 (GRCm39) |
I1055T |
probably benign |
Het |
| Dnai4 |
C |
T |
4: 102,947,630 (GRCm39) |
M215I |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,076,232 (GRCm39) |
D2975G |
probably benign |
Het |
| Eif1ad7 |
A |
T |
12: 88,238,476 (GRCm39) |
Y95N |
probably damaging |
Het |
| F5 |
G |
T |
1: 164,035,453 (GRCm39) |
V1876F |
possibly damaging |
Het |
| Fam81b |
T |
A |
13: 76,399,809 (GRCm39) |
I150F |
probably damaging |
Het |
| Fbl |
T |
A |
7: 27,877,684 (GRCm39) |
V252E |
probably damaging |
Het |
| Fbln1 |
A |
G |
15: 85,124,917 (GRCm39) |
D475G |
probably damaging |
Het |
| Fshr |
T |
A |
17: 89,293,590 (GRCm39) |
I363F |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,568,635 (GRCm39) |
L1328P |
probably damaging |
Het |
| Hcfc2 |
T |
A |
10: 82,547,659 (GRCm39) |
|
probably null |
Het |
| Ifi209 |
C |
A |
1: 173,470,198 (GRCm39) |
T262K |
probably damaging |
Het |
| Kif2b |
T |
A |
11: 91,467,411 (GRCm39) |
I291F |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 40,712,641 (GRCm39) |
D3231V |
|
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,268,754 (GRCm39) |
K209E |
probably benign |
Het |
| Nup98 |
C |
T |
7: 101,802,464 (GRCm39) |
|
probably null |
Het |
| Odad3 |
T |
C |
9: 21,904,193 (GRCm39) |
D361G |
possibly damaging |
Het |
| Or2ag2 |
T |
C |
7: 106,485,829 (GRCm39) |
Q65R |
probably damaging |
Het |
| Or2j6 |
T |
A |
7: 139,980,234 (GRCm39) |
I242F |
probably benign |
Het |
| Pign |
T |
C |
1: 105,480,122 (GRCm39) |
I851V |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,341,204 (GRCm39) |
L19Q |
unknown |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,355,150 (GRCm39) |
L959P |
probably benign |
Het |
| Prkcg |
T |
C |
7: 3,378,459 (GRCm39) |
I627T |
possibly damaging |
Het |
| Prl7b1 |
A |
T |
13: 27,791,031 (GRCm39) |
M18K |
probably benign |
Het |
| Ptpn3 |
T |
A |
4: 57,265,092 (GRCm39) |
|
probably null |
Het |
| Rp1 |
A |
T |
1: 4,240,457 (GRCm39) |
F899I |
unknown |
Het |
| Sis |
T |
A |
3: 72,832,431 (GRCm39) |
Y1026F |
probably benign |
Het |
| Slc4a10 |
T |
G |
2: 62,127,194 (GRCm39) |
V879G |
probably damaging |
Het |
| Specc1l |
T |
C |
10: 75,082,251 (GRCm39) |
I549T |
probably benign |
Het |
| Spmip11 |
T |
A |
15: 98,483,250 (GRCm39) |
V60E |
probably damaging |
Het |
| Sprr2a3 |
G |
A |
3: 92,196,066 (GRCm39) |
V58M |
unknown |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,106,209 (GRCm39) |
H785Y |
probably benign |
Het |
| Tat |
T |
A |
8: 110,718,242 (GRCm39) |
N42K |
probably benign |
Het |
| Tmem184a |
C |
T |
5: 139,792,744 (GRCm39) |
A271T |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,451,493 (GRCm39) |
I411V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,733,872 (GRCm39) |
I4468V |
unknown |
Het |
| Vcam1 |
T |
C |
3: 115,909,734 (GRCm39) |
N531S |
possibly damaging |
Het |
| Vmn1r257 |
C |
T |
7: 22,391,343 (GRCm39) |
V134I |
probably benign |
Het |
| Xcl1 |
T |
C |
1: 164,763,041 (GRCm39) |
T7A |
unknown |
Het |
| Zc3h7a |
A |
T |
16: 10,971,025 (GRCm39) |
Y335N |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,731 (GRCm39) |
I675V |
unknown |
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 |
|
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'- GTTTCAAGTCCTCCTAAAACTCCAAAG -3'
(R):5'- TATTCAAGTGGGAGCACAGGC -3'
Sequencing Primer
(F):5'- GTCCTCCTAAAACTCCAAAGTAATC -3'
(R):5'- GCATTGCCAAGGCTGATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation