Incidental Mutation 'R6744:C87436'
| ID |
532782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C87436
|
| Ensembl Gene |
ENSMUSG00000046679 |
| Gene Name |
expressed sequence C87436 |
| Synonyms |
|
| MMRRC Submission |
044861-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.319)
|
| Stock # |
R6744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
86415356-86450482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86423046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 207
(S207T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050497]
[ENSMUST00000113698]
[ENSMUST00000113700]
[ENSMUST00000133753]
[ENSMUST00000141972]
[ENSMUST00000203568]
[ENSMUST00000204137]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050497
AA Change: S207T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: S207T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
1.1e-22 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113698
AA Change: S207T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: S207T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
1e-22 |
PFAM |
|
low complexity region
|
278 |
290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113700
AA Change: S207T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: S207T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
16 |
57 |
1.3e-22 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133753
AA Change: S207T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679
AA Change: S207T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
6.2e-23 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141972
AA Change: S207T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679
AA Change: S207T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
6.2e-23 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203568
|
| SMART Domains |
Protein: ENSMUSP00000144724
Gene: ENSMUSG00000046679
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
16 |
57 |
3.3e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204137
|
| Meta Mutation Damage Score |
0.1248 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
A |
10: 20,841,466 (GRCm39) |
L251H |
probably damaging |
Het |
| Alk |
A |
T |
17: 72,910,077 (GRCm39) |
S210T |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,906,281 (GRCm39) |
F246S |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,024,858 (GRCm39) |
N1749K |
probably benign |
Het |
| C8b |
C |
T |
4: 104,631,543 (GRCm39) |
R53W |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,244 (GRCm39) |
V619A |
probably benign |
Het |
| Cdc73 |
G |
A |
1: 143,577,887 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
C |
A |
2: 179,489,180 (GRCm39) |
H297Q |
possibly damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,816,207 (GRCm39) |
N1328S |
probably damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,782,025 (GRCm39) |
V346E |
probably damaging |
Het |
| Ctns |
C |
T |
11: 73,076,111 (GRCm39) |
G308E |
probably damaging |
Het |
| Cxxc4 |
AGGCGGCGGCGGCGGCGGCGGCGGC |
AGGCGGCGGCGGCGGCGGCGGCGGCGGC |
3: 133,945,891 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,014,532 (GRCm39) |
I3685T |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,742,770 (GRCm39) |
H775R |
probably damaging |
Het |
| Eef1ece2 |
A |
T |
16: 20,449,116 (GRCm39) |
K165N |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,730 (GRCm39) |
V239D |
probably damaging |
Het |
| Gh |
T |
A |
11: 106,192,230 (GRCm39) |
K55* |
probably null |
Het |
| Havcr2 |
T |
G |
11: 46,345,887 (GRCm39) |
|
probably null |
Het |
| Kcnq2 |
T |
A |
2: 180,727,099 (GRCm39) |
H576L |
possibly damaging |
Het |
| Kifap3 |
A |
G |
1: 163,676,239 (GRCm39) |
N398S |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Mblac1 |
A |
G |
5: 138,192,682 (GRCm39) |
E8G |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,543,112 (GRCm39) |
T290I |
probably benign |
Het |
| Nceh1 |
T |
C |
3: 27,295,938 (GRCm39) |
Y400H |
probably damaging |
Het |
| Nek9 |
A |
G |
12: 85,376,703 (GRCm39) |
V226A |
probably benign |
Het |
| Or10a3 |
T |
C |
7: 108,480,037 (GRCm39) |
T259A |
probably damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,336 (GRCm39) |
Y258* |
probably null |
Het |
| Or2d4 |
A |
G |
7: 106,543,741 (GRCm39) |
S156P |
probably damaging |
Het |
| Otud4 |
C |
A |
8: 80,400,407 (GRCm39) |
Y1039* |
probably null |
Het |
| Pax4 |
T |
C |
6: 28,442,396 (GRCm39) |
H331R |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,165,960 (GRCm39) |
Y2090* |
probably null |
Het |
| Ppp1r12a |
T |
A |
10: 108,066,395 (GRCm39) |
H195Q |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,140,864 (GRCm39) |
|
probably null |
Het |
| Prodh |
A |
G |
16: 17,897,064 (GRCm39) |
V23A |
probably benign |
Het |
| Psg20 |
G |
A |
7: 18,408,505 (GRCm39) |
T405I |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,093,562 (GRCm39) |
D360G |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,418,324 (GRCm39) |
M164K |
possibly damaging |
Het |
| Rad18 |
A |
T |
6: 112,652,745 (GRCm39) |
M284K |
probably damaging |
Het |
| Rgs17 |
T |
C |
10: 5,792,567 (GRCm39) |
K60E |
possibly damaging |
Het |
| Sec31a |
G |
T |
5: 100,540,358 (GRCm39) |
Q39K |
possibly damaging |
Het |
| Slc22a22 |
G |
T |
15: 57,117,668 (GRCm39) |
T291K |
possibly damaging |
Het |
| Sult2a6 |
C |
T |
7: 13,956,470 (GRCm39) |
E264K |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,121,221 (GRCm39) |
R5896C |
probably damaging |
Het |
| Tctn1 |
A |
T |
5: 122,402,209 (GRCm39) |
V75D |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 31,031,372 (GRCm39) |
K409E |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,853,301 (GRCm39) |
Y553C |
probably damaging |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,184 (GRCm39) |
V273I |
probably benign |
Het |
|
| Other mutations in C87436 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:C87436
|
APN |
6 |
86,434,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01596:C87436
|
APN |
6 |
86,423,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:C87436
|
APN |
6 |
86,430,677 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02798:C87436
|
APN |
6 |
86,423,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0008:C87436
|
UTSW |
6 |
86,423,265 (GRCm39) |
unclassified |
probably benign |
|
|
R0128:C87436
|
UTSW |
6 |
86,446,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0445:C87436
|
UTSW |
6 |
86,426,832 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0970:C87436
|
UTSW |
6 |
86,424,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1125:C87436
|
UTSW |
6 |
86,424,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1310:C87436
|
UTSW |
6 |
86,422,432 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1640:C87436
|
UTSW |
6 |
86,423,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1764:C87436
|
UTSW |
6 |
86,430,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2213:C87436
|
UTSW |
6 |
86,422,455 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2275:C87436
|
UTSW |
6 |
86,422,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3947:C87436
|
UTSW |
6 |
86,423,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:C87436
|
UTSW |
6 |
86,442,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:C87436
|
UTSW |
6 |
86,424,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5982:C87436
|
UTSW |
6 |
86,422,957 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6171:C87436
|
UTSW |
6 |
86,422,449 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7215:C87436
|
UTSW |
6 |
86,439,662 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7253:C87436
|
UTSW |
6 |
86,442,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7876:C87436
|
UTSW |
6 |
86,423,411 (GRCm39) |
splice site |
probably null |
|
|
R8035:C87436
|
UTSW |
6 |
86,424,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8312:C87436
|
UTSW |
6 |
86,434,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8919:C87436
|
UTSW |
6 |
86,422,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:C87436
|
UTSW |
6 |
86,442,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9099:C87436
|
UTSW |
6 |
86,439,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:C87436
|
UTSW |
6 |
86,423,227 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9270:C87436
|
UTSW |
6 |
86,442,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAACACATCAAGCTAGCG -3'
(R):5'- AGAACTCCTGAGCCAATGTCTC -3'
Sequencing Primer
(F):5'- ACATCAAGCTAGCGGTGACCTG -3'
(R):5'- ATGTCTCATCGCTGGCAAAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation