Incidental Mutation 'R5438:Zc3h11a'
ID |
428458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h11a
|
Ensembl Gene |
ENSMUSG00000116275 |
Gene Name |
zinc finger CCCH type containing 11A |
Synonyms |
1110003F06Rik, G630041M05Rik, 5730454B08Rik |
MMRRC Submission |
043003-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5438 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
133547600-133589137 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 133568385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 88
(R88H)
|
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 damaging
Transcript: ENSMUST00000027736
AA Change: R88H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027736 Gene: ENSMUSG00000116275 AA Change: R88H
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 damaging
Transcript: ENSMUST00000191896
AA Change: R88H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141255 Gene: ENSMUSG00000102976 AA Change: R88H
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 damaging
Transcript: ENSMUST00000194668
AA Change: R88H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141727 Gene: ENSMUSG00000102976 AA Change: R88H
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 damaging
Transcript: ENSMUST00000195424
AA Change: R88H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000142066 Gene: ENSMUSG00000102976 AA Change: R88H
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 |
probably benign
Transcript: ENSMUST00000195669
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
C |
A |
7: 66,538,165 (GRCm39) |
Q244K |
probably benign |
Het |
Arpc2 |
T |
A |
1: 74,275,995 (GRCm39) |
L4Q |
probably null |
Het |
Atp7b |
C |
T |
8: 22,504,570 (GRCm39) |
V581I |
probably benign |
Het |
Bpifb9b |
T |
A |
2: 154,151,288 (GRCm39) |
V3D |
possibly damaging |
Het |
Capn13 |
A |
G |
17: 73,633,479 (GRCm39) |
F525L |
probably benign |
Het |
Cimip4 |
T |
C |
15: 78,263,040 (GRCm39) |
T180A |
possibly damaging |
Het |
Cmya5 |
G |
T |
13: 93,231,707 (GRCm39) |
T1127K |
possibly damaging |
Het |
Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
Cpd |
T |
A |
11: 76,682,792 (GRCm39) |
I1076F |
possibly damaging |
Het |
Elp4 |
A |
G |
2: 105,734,748 (GRCm39) |
F29S |
probably damaging |
Het |
Exosc10 |
T |
A |
4: 148,650,799 (GRCm39) |
Y448* |
probably null |
Het |
Fam219a |
A |
G |
4: 41,520,302 (GRCm39) |
S149P |
probably damaging |
Het |
Gdap2 |
A |
T |
3: 100,085,629 (GRCm39) |
I184F |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
Hvcn1 |
A |
G |
5: 122,376,527 (GRCm39) |
K153R |
probably damaging |
Het |
Ighv3-1 |
T |
A |
12: 113,928,089 (GRCm39) |
H90L |
probably benign |
Het |
Kcnn3 |
T |
A |
3: 89,428,605 (GRCm39) |
L277Q |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,107,769 (GRCm39) |
S2128T |
possibly damaging |
Het |
Ltbp1 |
T |
A |
17: 75,598,321 (GRCm39) |
S919T |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,661,455 (GRCm39) |
N1163S |
probably damaging |
Het |
Mypn |
G |
T |
10: 62,971,618 (GRCm39) |
C807* |
probably null |
Het |
Or52n5 |
G |
A |
7: 104,588,344 (GRCm39) |
V204I |
probably benign |
Het |
Or5m8 |
T |
C |
2: 85,822,925 (GRCm39) |
F255L |
probably damaging |
Het |
Otud7a |
A |
G |
7: 63,407,207 (GRCm39) |
N62S |
unknown |
Het |
Pcdh18 |
A |
T |
3: 49,710,465 (GRCm39) |
Y283* |
probably null |
Het |
Ptger2 |
A |
T |
14: 45,227,101 (GRCm39) |
H227L |
possibly damaging |
Het |
Slc24a5 |
A |
G |
2: 124,910,785 (GRCm39) |
Y72C |
probably damaging |
Het |
Slc35f2 |
T |
A |
9: 53,708,302 (GRCm39) |
D98E |
probably benign |
Het |
Smad1 |
A |
T |
8: 80,082,949 (GRCm39) |
F184I |
probably benign |
Het |
Sncg |
C |
T |
14: 34,095,637 (GRCm39) |
V52I |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Zfp141 |
A |
G |
7: 42,138,894 (GRCm39) |
V46A |
probably damaging |
Het |
Zfp472 |
T |
A |
17: 33,197,193 (GRCm39) |
C423S |
probably damaging |
Het |
Zfp729a |
A |
T |
13: 67,767,705 (GRCm39) |
H841Q |
possibly 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 |
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'- GACAAACATTTGGTCCTCTCTGTG -3'
(R):5'- AACATGACCTCCTGTGTCAG -3'
Sequencing Primer
(F):5'- AAACATTTGGTCCTCTCTGTGCATAC -3'
(R):5'- GACCTCCTGTGTCAGAGTTTAGAAC -3'
|
Posted On |
2016-09-01 |