Incidental Mutation 'R4295:4833420G17Rik'
| ID |
323279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4833420G17Rik
|
| Ensembl Gene |
ENSMUSG00000062822 |
| Gene Name |
RIKEN cDNA 4833420G17 gene |
| Synonyms |
|
| MMRRC Submission |
041084-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4295 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
119599304-119622656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119606249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 164
(S164P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026519]
[ENSMUST00000224081]
[ENSMUST00000224312]
[ENSMUST00000225186]
[ENSMUST00000225726]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026519
AA Change: S164P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822
AA Change: S164P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4524
|
9 |
154 |
5e-61 |
PFAM |
|
Pfam:DUF4520
|
451 |
542 |
8.6e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000048965
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224081
AA Change: S164P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224312
AA Change: S164P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225186
AA Change: S164P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225726
AA Change: S164P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D06Rik |
A |
G |
6: 89,084,883 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1l2 |
C |
T |
10: 83,331,784 (GRCm39) |
V674M |
possibly damaging |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,756,479 (GRCm39) |
I870V |
probably benign |
Het |
| Cd200r4 |
T |
C |
16: 44,653,239 (GRCm39) |
V3A |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,875 (GRCm39) |
N302S |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 118,009,598 (GRCm39) |
I363N |
probably damaging |
Het |
| Fam98a |
A |
T |
17: 75,848,342 (GRCm39) |
M124K |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Foxj3 |
G |
T |
4: 119,483,494 (GRCm39) |
G555* |
probably null |
Het |
| Gm4841 |
T |
C |
18: 60,403,262 (GRCm39) |
N277S |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,363,410 (GRCm39) |
D863G |
probably benign |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Lcn11 |
G |
A |
2: 25,668,111 (GRCm39) |
A90T |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Or5m3 |
T |
C |
2: 85,838,614 (GRCm39) |
Y165H |
probably benign |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Or9a4 |
T |
A |
6: 40,549,090 (GRCm39) |
F257I |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Pcgf2 |
A |
T |
11: 97,584,282 (GRCm39) |
Y24* |
probably null |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Pigf |
A |
G |
17: 87,331,184 (GRCm39) |
I46T |
probably benign |
Het |
| Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,590 (GRCm39) |
E65G |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
| Tjp1 |
T |
C |
7: 64,972,898 (GRCm39) |
D514G |
probably damaging |
Het |
| Ttll11 |
TCGCCGCCGCCGCCGCCGCCGC |
TCGCCGCCGCCGCCGCCGC |
2: 35,869,564 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,641,786 (GRCm39) |
S1236P |
probably damaging |
Het |
| Utp20 |
G |
T |
10: 88,590,381 (GRCm39) |
D2364E |
possibly damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn1r76 |
T |
C |
7: 11,665,057 (GRCm39) |
I52M |
probably benign |
Het |
| Xndc1 |
T |
A |
7: 101,730,694 (GRCm39) |
L288M |
possibly damaging |
Het |
| Zfp451 |
A |
T |
1: 33,816,836 (GRCm39) |
F154L |
probably damaging |
Het |
|
| Other mutations in 4833420G17Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:4833420G17Rik
|
APN |
13 |
119,603,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01555:4833420G17Rik
|
APN |
13 |
119,610,443 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02395:4833420G17Rik
|
APN |
13 |
119,617,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02725:4833420G17Rik
|
APN |
13 |
119,611,445 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02904:4833420G17Rik
|
APN |
13 |
119,620,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03126:4833420G17Rik
|
APN |
13 |
119,617,563 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0410:4833420G17Rik
|
UTSW |
13 |
119,606,268 (GRCm39) |
missense |
probably benign |
|
|
R0437:4833420G17Rik
|
UTSW |
13 |
119,606,631 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0513:4833420G17Rik
|
UTSW |
13 |
119,606,195 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0569:4833420G17Rik
|
UTSW |
13 |
119,621,016 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0788:4833420G17Rik
|
UTSW |
13 |
119,610,468 (GRCm39) |
nonsense |
probably null |
|
|
R1495:4833420G17Rik
|
UTSW |
13 |
119,614,356 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1617:4833420G17Rik
|
UTSW |
13 |
119,603,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:4833420G17Rik
|
UTSW |
13 |
119,606,216 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1914:4833420G17Rik
|
UTSW |
13 |
119,622,386 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2169:4833420G17Rik
|
UTSW |
13 |
119,622,349 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4238:4833420G17Rik
|
UTSW |
13 |
119,603,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4240:4833420G17Rik
|
UTSW |
13 |
119,603,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4469:4833420G17Rik
|
UTSW |
13 |
119,606,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4643:4833420G17Rik
|
UTSW |
13 |
119,611,396 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4964:4833420G17Rik
|
UTSW |
13 |
119,610,757 (GRCm39) |
intron |
probably benign |
|
|
R4966:4833420G17Rik
|
UTSW |
13 |
119,610,757 (GRCm39) |
intron |
probably benign |
|
|
R5093:4833420G17Rik
|
UTSW |
13 |
119,610,573 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5384:4833420G17Rik
|
UTSW |
13 |
119,606,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6255:4833420G17Rik
|
UTSW |
13 |
119,602,659 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6491:4833420G17Rik
|
UTSW |
13 |
119,612,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6564:4833420G17Rik
|
UTSW |
13 |
119,622,613 (GRCm39) |
splice site |
probably null |
|
|
R7023:4833420G17Rik
|
UTSW |
13 |
119,610,443 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7574:4833420G17Rik
|
UTSW |
13 |
119,606,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9218:4833420G17Rik
|
UTSW |
13 |
119,610,460 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9508:4833420G17Rik
|
UTSW |
13 |
119,617,484 (GRCm39) |
missense |
|
|
|
R9521:4833420G17Rik
|
UTSW |
13 |
119,608,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9567:4833420G17Rik
|
UTSW |
13 |
119,602,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:4833420G17Rik
|
UTSW |
13 |
119,615,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:4833420G17Rik
|
UTSW |
13 |
119,614,344 (GRCm39) |
missense |
not run |
|
|
Z1177:4833420G17Rik
|
UTSW |
13 |
119,614,344 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCTCGGAAGTAGAATGGCC -3'
(R):5'- CATCTGTGATTTGTGCCCAG -3'
Sequencing Primer
(F):5'- CCAGCCTTGACAGAGATGACTG -3'
(R):5'- ATTTGTGCCCAGGGAAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation