Incidental Mutation 'R4986:Ccdc34'
| ID |
385866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc34
|
| Ensembl Gene |
ENSMUSG00000027160 |
| Gene Name |
coiled-coil domain containing 34 |
| Synonyms |
2810027O19Rik, 4930522P10Rik |
| MMRRC Submission |
042580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4986 (G1)
|
| Quality Score |
180 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
109848162-110003705 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 109848214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028580]
[ENSMUST00000046548]
[ENSMUST00000111037]
|
| AlphaFold |
Q3UI66 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028580
AA Change: M1T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000028580
Gene: ENSMUSG00000027160
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
|
Pfam:DUF4207
|
62 |
315 |
5.6e-56 |
PFAM |
|
low complexity region
|
338 |
349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046548
|
| SMART Domains |
Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
LRRNT
|
28 |
61 |
6.68e-6 |
SMART |
|
LRR
|
55 |
79 |
1.49e1 |
SMART |
|
LRR
|
80 |
103 |
1.99e0 |
SMART |
|
LRR_TYP
|
104 |
127 |
2.75e-3 |
SMART |
|
LRR_TYP
|
128 |
151 |
2.79e-4 |
SMART |
|
LRR
|
152 |
175 |
2.54e1 |
SMART |
|
LRR
|
176 |
199 |
4.65e-1 |
SMART |
|
LRR_TYP
|
200 |
223 |
1.04e-3 |
SMART |
|
LRR
|
224 |
246 |
6.4e0 |
SMART |
|
LRR_TYP
|
247 |
270 |
5.99e-4 |
SMART |
|
LRR
|
272 |
294 |
9.77e1 |
SMART |
|
LRR
|
318 |
341 |
3e1 |
SMART |
|
LRR
|
343 |
363 |
4.71e1 |
SMART |
|
LRR
|
364 |
387 |
1.49e1 |
SMART |
|
LRR_TYP
|
388 |
411 |
1.15e-5 |
SMART |
|
LRR
|
412 |
435 |
3.98e1 |
SMART |
|
low complexity region
|
500 |
516 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
555 |
801 |
2.7e-10 |
PFAM |
|
low complexity region
|
824 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
924 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111037
|
| SMART Domains |
Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
LRRNT
|
28 |
61 |
6.68e-6 |
SMART |
|
LRR
|
55 |
79 |
9.77e1 |
SMART |
|
LRR_TYP
|
80 |
103 |
2.75e-3 |
SMART |
|
LRR_TYP
|
104 |
127 |
2.79e-4 |
SMART |
|
LRR
|
128 |
151 |
2.54e1 |
SMART |
|
LRR
|
152 |
175 |
4.65e-1 |
SMART |
|
LRR_TYP
|
176 |
199 |
1.04e-3 |
SMART |
|
LRR
|
200 |
222 |
6.4e0 |
SMART |
|
LRR_TYP
|
223 |
246 |
5.99e-4 |
SMART |
|
LRR
|
248 |
270 |
9.77e1 |
SMART |
|
LRR
|
294 |
317 |
3e1 |
SMART |
|
LRR
|
319 |
339 |
4.71e1 |
SMART |
|
LRR
|
340 |
363 |
1.49e1 |
SMART |
|
LRR_TYP
|
364 |
387 |
1.15e-5 |
SMART |
|
LRR
|
388 |
411 |
3.98e1 |
SMART |
|
low complexity region
|
476 |
492 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
531 |
777 |
9.3e-17 |
PFAM |
|
low complexity region
|
800 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
900 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126990
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127630
|
| SMART Domains |
Protein: ENSMUSP00000130554
Gene: ENSMUSG00000027160
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4207
|
25 |
174 |
6.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150183
|
| SMART Domains |
Protein: ENSMUSP00000127363
Gene: ENSMUSG00000027160
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4207
|
31 |
139 |
3.7e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.9659 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.2%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,573,317 (GRCm39) |
C1005S |
probably benign |
Het |
| Armh4 |
A |
T |
14: 49,989,111 (GRCm39) |
D619E |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,491,758 (GRCm39) |
N709K |
possibly damaging |
Het |
| Ces2f |
G |
A |
8: 105,678,657 (GRCm39) |
S298N |
probably benign |
Het |
| Defa30 |
T |
A |
8: 21,625,432 (GRCm39) |
Y65* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,809,182 (GRCm39) |
C1314G |
probably damaging |
Het |
| Emc2 |
A |
G |
15: 43,375,180 (GRCm39) |
M226V |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,636 (GRCm39) |
Y2122C |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,431,037 (GRCm39) |
D560G |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,760 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
A |
T |
14: 45,483,743 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
C |
T |
16: 21,889,056 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,236,027 (GRCm39) |
T1385A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,141,840 (GRCm39) |
N1734I |
probably damaging |
Het |
| Kbtbd6 |
A |
G |
14: 79,690,049 (GRCm39) |
H248R |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,284,914 (GRCm39) |
R5650Q |
probably damaging |
Het |
| Mdh1 |
A |
G |
11: 21,508,545 (GRCm39) |
F266L |
possibly damaging |
Het |
| Mecom |
G |
T |
3: 30,034,848 (GRCm39) |
P466Q |
probably damaging |
Het |
| Muc20 |
A |
G |
16: 32,598,009 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,772 (GRCm39) |
N170Y |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,687,858 (GRCm39) |
L113Q |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,846,061 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,492 (GRCm39) |
Y4179* |
probably null |
Het |
| Septin11 |
T |
C |
5: 93,309,100 (GRCm39) |
V203A |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,248,910 (GRCm39) |
T173S |
probably benign |
Het |
| Slain1 |
A |
T |
14: 103,925,541 (GRCm39) |
R296S |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,037,592 (GRCm39) |
*93C |
probably null |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Srl |
T |
C |
16: 4,314,646 (GRCm39) |
Y332C |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,000 (GRCm39) |
H95Y |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,090,985 (GRCm39) |
D532N |
probably benign |
Het |
| Ybx1 |
C |
T |
4: 119,139,627 (GRCm39) |
V123I |
probably damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,211 (GRCm39) |
H345Q |
probably damaging |
Het |
| Zfp993 |
T |
A |
4: 146,742,014 (GRCm39) |
F113I |
probably benign |
Het |
|
| Other mutations in Ccdc34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
marrowfuel
|
UTSW |
2 |
109,874,572 (GRCm39) |
nonsense |
probably null |
|
|
peek
|
UTSW |
2 |
109,848,352 (GRCm39) |
missense |
probably benign |
0.04 |
|
LCD18:Ccdc34
|
UTSW |
2 |
110,016,318 (GRCm38) |
unclassified |
probably benign |
|
|
R1808:Ccdc34
|
UTSW |
2 |
109,874,601 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2011:Ccdc34
|
UTSW |
2 |
109,874,649 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2025:Ccdc34
|
UTSW |
2 |
109,862,731 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3852:Ccdc34
|
UTSW |
2 |
109,862,773 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4968:Ccdc34
|
UTSW |
2 |
109,871,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6075:Ccdc34
|
UTSW |
2 |
109,874,580 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6103:Ccdc34
|
UTSW |
2 |
109,848,352 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6294:Ccdc34
|
UTSW |
2 |
109,848,496 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7856:Ccdc34
|
UTSW |
2 |
109,874,572 (GRCm39) |
nonsense |
probably null |
|
|
R9191:Ccdc34
|
UTSW |
2 |
109,852,301 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9627:Ccdc34
|
UTSW |
2 |
109,871,010 (GRCm39) |
frame shift |
probably null |
|
|
X0025:Ccdc34
|
UTSW |
2 |
109,874,657 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTGGACTGAGGAAGCCAAG -3'
(R):5'- CAAACGGAAAGCTCTGGTGG -3'
Sequencing Primer
(F):5'- TGAGGAAGCCAAGCTCTTC -3'
(R):5'- AGTTGCTGCAGCTCAGAGAC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation