Incidental Mutation 'R6385:Zc3h11a'
| ID |
515531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h11a
|
| Ensembl Gene |
ENSMUSG00000116275 |
| Gene Name |
zinc finger CCCH type containing 11A |
| Synonyms |
1110003F06Rik, G630041M05Rik, 5730454B08Rik |
| MMRRC Submission |
044534-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6385 (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 T
at 133565192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 236
(S236T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000027736
AA Change: S236T
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027736
Gene: ENSMUSG00000116275
AA Change: S236T
| 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: S236T
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141255
Gene: ENSMUSG00000102976
AA Change: S236T
| 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 |
noncoding transcript
Transcript: ENSMUST00000192107
|
| 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 |
unknown
Transcript: ENSMUST00000195669
AA Change: S112T
|
| 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 |
|
| Meta Mutation Damage Score |
0.0608 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,236 (GRCm39) |
M910L |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,025,080 (GRCm39) |
I988F |
probably damaging |
Het |
| Adgra2 |
A |
T |
8: 27,608,878 (GRCm39) |
S92C |
probably damaging |
Het |
| Apon |
A |
G |
10: 128,090,223 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,130,084 (GRCm39) |
R26* |
probably null |
Het |
| Btnl6 |
T |
G |
17: 34,727,343 (GRCm39) |
I396L |
probably benign |
Het |
| Catsper3 |
G |
T |
13: 55,934,239 (GRCm39) |
Q53H |
probably damaging |
Het |
| Cep164 |
T |
G |
9: 45,691,081 (GRCm39) |
E372A |
probably damaging |
Het |
| Cln3 |
A |
T |
7: 126,174,207 (GRCm39) |
C339S |
probably null |
Het |
| Cntnap2 |
G |
A |
6: 46,833,114 (GRCm39) |
D776N |
probably benign |
Het |
| Cttnbp2nl |
A |
G |
3: 104,912,952 (GRCm39) |
F311L |
probably benign |
Het |
| Daam2 |
C |
T |
17: 49,770,964 (GRCm39) |
A918T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,346,549 (GRCm39) |
V7353A |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,032,606 (GRCm39) |
|
probably null |
Het |
| Filip1 |
G |
T |
9: 79,727,813 (GRCm39) |
Q269K |
possibly damaging |
Het |
| Fut9 |
G |
A |
4: 25,620,328 (GRCm39) |
S162L |
probably damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,433,544 (GRCm39) |
H294Q |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,313 (GRCm39) |
I225T |
probably benign |
Het |
| H2-DMb1 |
T |
A |
17: 34,374,576 (GRCm39) |
N75K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hes1 |
A |
G |
16: 29,884,424 (GRCm39) |
M6V |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,038,856 (GRCm39) |
H198L |
possibly damaging |
Het |
| Iars1 |
T |
C |
13: 49,855,371 (GRCm39) |
L266P |
probably damaging |
Het |
| Ifna11 |
A |
G |
4: 88,738,386 (GRCm39) |
E64G |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,838,326 (GRCm39) |
T850A |
probably damaging |
Het |
| Lgi3 |
A |
G |
14: 70,768,610 (GRCm39) |
T36A |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,326,128 (GRCm39) |
S1810G |
probably benign |
Het |
| Lypd10 |
A |
T |
7: 24,413,535 (GRCm39) |
I184F |
probably damaging |
Het |
| Msln |
T |
A |
17: 25,970,115 (GRCm39) |
D280V |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,146,663 (GRCm39) |
I1513F |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,173 (GRCm39) |
M262L |
probably benign |
Het |
| Neb |
G |
T |
2: 52,075,311 (GRCm39) |
A218D |
probably damaging |
Het |
| Notch4 |
C |
A |
17: 34,792,788 (GRCm39) |
Q640K |
probably null |
Het |
| Or4f7 |
T |
C |
2: 111,644,964 (GRCm39) |
I36V |
probably benign |
Het |
| Or52e19b |
A |
T |
7: 103,033,104 (GRCm39) |
V35D |
possibly damaging |
Het |
| Or6k6 |
A |
T |
1: 173,944,862 (GRCm39) |
F240Y |
probably damaging |
Het |
| Pear1 |
G |
T |
3: 87,661,506 (GRCm39) |
H562N |
probably benign |
Het |
| Poli |
C |
A |
18: 70,663,072 (GRCm39) |
|
probably benign |
Het |
| Ppp3r2 |
A |
G |
4: 49,681,767 (GRCm39) |
I61T |
possibly damaging |
Het |
| Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
| Serhl |
A |
G |
15: 82,985,823 (GRCm39) |
T5A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,405,578 (GRCm39) |
|
probably null |
Het |
| Slc22a28 |
A |
G |
19: 8,078,844 (GRCm39) |
S282P |
probably damaging |
Het |
| Slc2a12 |
C |
T |
10: 22,569,929 (GRCm39) |
T540I |
possibly damaging |
Het |
| Slurp2 |
T |
C |
15: 74,618,524 (GRCm39) |
M1V |
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,185,411 (GRCm39) |
A700T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,748,192 (GRCm39) |
V4286I |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,389,341 (GRCm39) |
K214R |
possibly damaging |
Het |
| Vmn1r46 |
A |
G |
6: 89,953,427 (GRCm39) |
H92R |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,067,504 (GRCm39) |
I1486T |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,721,932 (GRCm39) |
K1312E |
probably damaging |
Het |
| Zfp930 |
A |
G |
8: 69,681,283 (GRCm39) |
Y326C |
probably damaging |
Het |
| Zfp972 |
G |
T |
2: 177,563,588 (GRCm39) |
D8E |
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 |
|
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'- GTTTCAAGTCCTCCTAAAACTCCAAAG -3'
(R):5'- TATTCAAGTGGGAGCACAGG -3'
Sequencing Primer
(F):5'- GTCCTCCTAAAACTCCAAAGTAATC -3'
(R):5'- GCATTGCCAAGGCTGATG -3'
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| Posted On |
2018-05-04 |
Incidental Mutation