Incidental Mutation 'R4115:Ankrd34c'
| ID |
314595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd34c
|
| Ensembl Gene |
ENSMUSG00000047606 |
| Gene Name |
ankyrin repeat domain 34C |
| Synonyms |
B230218L05Rik, LOC330998 |
| MMRRC Submission |
041630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4115 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
89607298-89620528 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89611927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 138
(L138P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060700]
[ENSMUST00000185470]
|
| AlphaFold |
Q8BLB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060700
AA Change: L138P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056787
Gene: ENSMUSG00000047606
AA Change: L138P
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
10 |
39 |
1.16e3 |
SMART |
|
ANK
|
43 |
80 |
1.46e-2 |
SMART |
|
ANK
|
84 |
114 |
1.52e0 |
SMART |
|
ANK
|
118 |
147 |
1.33e2 |
SMART |
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
474 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185470
AA Change: L138P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140919
Gene: ENSMUSG00000047606
AA Change: L138P
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
10 |
39 |
1.16e3 |
SMART |
|
ANK
|
43 |
80 |
1.46e-2 |
SMART |
|
ANK
|
84 |
114 |
1.52e0 |
SMART |
|
ANK
|
118 |
147 |
1.33e2 |
SMART |
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
474 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5936 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aplp2 |
C |
T |
9: 31,069,122 (GRCm39) |
R569Q |
probably benign |
Het |
| BC035044 |
C |
T |
6: 128,867,813 (GRCm39) |
|
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,567,300 (GRCm39) |
M626V |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 110,066,039 (GRCm39) |
R771Q |
probably benign |
Het |
| Chd3 |
T |
G |
11: 69,248,343 (GRCm39) |
I850L |
possibly damaging |
Het |
| Cspg4 |
T |
A |
9: 56,805,678 (GRCm39) |
L2163Q |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
| Dcun1d3 |
T |
C |
7: 119,458,957 (GRCm39) |
N26S |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,354,272 (GRCm39) |
Y391* |
probably null |
Het |
| Gnl3 |
T |
G |
14: 30,738,813 (GRCm39) |
K79Q |
probably damaging |
Het |
| Hat1 |
A |
G |
2: 71,271,566 (GRCm39) |
T380A |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
| Ighv11-1 |
A |
G |
12: 113,945,685 (GRCm39) |
V56A |
probably benign |
Het |
| Ism2 |
A |
G |
12: 87,333,805 (GRCm39) |
I80T |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,980,260 (GRCm39) |
E823V |
probably damaging |
Het |
| Letm2 |
T |
A |
8: 26,070,343 (GRCm39) |
K432* |
probably null |
Het |
| LTO1 |
G |
A |
7: 144,473,383 (GRCm39) |
V142M |
possibly damaging |
Het |
| Mc4r |
T |
A |
18: 66,993,050 (GRCm39) |
Y21F |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mycbpap |
C |
A |
11: 94,403,051 (GRCm39) |
|
probably null |
Het |
| Nfkbil1 |
A |
G |
17: 35,440,286 (GRCm39) |
M129T |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,377,407 (GRCm39) |
C223F |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,613,109 (GRCm39) |
V606A |
possibly damaging |
Het |
| Nudcd2 |
T |
C |
11: 40,627,434 (GRCm39) |
M118T |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,797 (GRCm39) |
L115Q |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,410,783 (GRCm39) |
D1870N |
unknown |
Het |
| Pde3b |
T |
C |
7: 114,120,962 (GRCm39) |
F696L |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
| Pgm1 |
C |
T |
4: 99,819,348 (GRCm39) |
Q191* |
probably null |
Het |
| Pramel21 |
A |
G |
4: 143,344,026 (GRCm39) |
D442G |
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,419,905 (GRCm39) |
S5P |
probably damaging |
Het |
| Reps1 |
C |
T |
10: 17,979,955 (GRCm39) |
P397S |
possibly damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Spata13 |
G |
T |
14: 60,929,927 (GRCm39) |
G168V |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,067,923 (GRCm39) |
W2117R |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,299 (GRCm39) |
L607S |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,809,921 (GRCm39) |
W1106R |
probably damaging |
Het |
| Tssk3 |
T |
C |
4: 129,383,300 (GRCm39) |
Y124C |
probably damaging |
Het |
| Ugt2b1 |
A |
G |
5: 87,074,273 (GRCm39) |
W29R |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,148,332 (GRCm39) |
F76L |
probably benign |
Het |
|
| Other mutations in Ankrd34c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00910:Ankrd34c
|
APN |
9 |
89,611,079 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01630:Ankrd34c
|
APN |
9 |
89,611,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01683:Ankrd34c
|
APN |
9 |
89,611,850 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01886:Ankrd34c
|
APN |
9 |
89,612,318 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02323:Ankrd34c
|
APN |
9 |
89,612,033 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02679:Ankrd34c
|
APN |
9 |
89,612,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Ankrd34c
|
APN |
9 |
89,611,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03008:Ankrd34c
|
APN |
9 |
89,612,337 (GRCm39) |
start codon destroyed |
probably null |
0.05 |
|
R0024:Ankrd34c
|
UTSW |
9 |
89,611,580 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0107:Ankrd34c
|
UTSW |
9 |
89,611,537 (GRCm39) |
missense |
probably benign |
|
|
R1602:Ankrd34c
|
UTSW |
9 |
89,611,058 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1879:Ankrd34c
|
UTSW |
9 |
89,612,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4114:Ankrd34c
|
UTSW |
9 |
89,611,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Ankrd34c
|
UTSW |
9 |
89,611,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Ankrd34c
|
UTSW |
9 |
89,611,817 (GRCm39) |
nonsense |
probably null |
|
|
R5012:Ankrd34c
|
UTSW |
9 |
89,611,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5020:Ankrd34c
|
UTSW |
9 |
89,611,759 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5747:Ankrd34c
|
UTSW |
9 |
89,611,814 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6766:Ankrd34c
|
UTSW |
9 |
89,611,381 (GRCm39) |
missense |
probably benign |
|
|
R7011:Ankrd34c
|
UTSW |
9 |
89,611,001 (GRCm39) |
nonsense |
probably null |
|
|
R7614:Ankrd34c
|
UTSW |
9 |
89,610,914 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7651:Ankrd34c
|
UTSW |
9 |
89,611,463 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8006:Ankrd34c
|
UTSW |
9 |
89,611,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8082:Ankrd34c
|
UTSW |
9 |
89,610,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Ankrd34c
|
UTSW |
9 |
89,611,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8891:Ankrd34c
|
UTSW |
9 |
89,612,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Ankrd34c
|
UTSW |
9 |
89,610,940 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9361:Ankrd34c
|
UTSW |
9 |
89,612,183 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9392:Ankrd34c
|
UTSW |
9 |
89,611,787 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0022:Ankrd34c
|
UTSW |
9 |
89,611,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCACTGGGTGGAGAAGC -3'
(R):5'- TGTTGGACAACAGGGCAGAC -3'
Sequencing Primer
(F):5'- CAGGCCAGAAGTCTTCAGTTC -3'
(R):5'- CCCAATATCCAGGATAAGTCTGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation