Incidental Mutation 'R3777:Rsph14'
| ID |
271852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsph14
|
| Ensembl Gene |
ENSMUSG00000009070 |
| Gene Name |
radial spoke head homolog 14 (Chlamydomonas) |
| Synonyms |
4933431K05Rik, Rtdr1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R3777 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
74793309-74868418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 74793419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 360
(Q360H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009214]
[ENSMUST00000160072]
[ENSMUST00000160450]
[ENSMUST00000166088]
[ENSMUST00000179546]
|
| AlphaFold |
Q9D3W1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009214
AA Change: Q327H
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: Q327H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_2
|
28 |
133 |
9.9e-8 |
PFAM |
|
ARM
|
138 |
178 |
3.18e1 |
SMART |
|
ARM
|
218 |
258 |
1.88e0 |
SMART |
|
ARM
|
259 |
300 |
3.32e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160072
|
| SMART Domains |
Protein: ENSMUSP00000123760
Gene: ENSMUSG00000009070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_2
|
28 |
133 |
1.6e-8 |
PFAM |
|
Blast:ARM
|
138 |
161 |
2e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160450
|
| SMART Domains |
Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_2
|
28 |
133 |
4.1e-8 |
PFAM |
|
Blast:ARM
|
138 |
178 |
3e-19 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166088
AA Change: Q360H
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: Q360H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ARM
|
48 |
88 |
1e-7 |
BLAST |
|
Blast:ARM
|
89 |
129 |
3e-16 |
BLAST |
|
ARM
|
171 |
211 |
3.18e1 |
SMART |
|
ARM
|
251 |
291 |
1.88e0 |
SMART |
|
ARM
|
292 |
333 |
3.32e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179546
AA Change: Q327H
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: Q327H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_2
|
28 |
133 |
9.9e-8 |
PFAM |
|
ARM
|
138 |
178 |
3.18e1 |
SMART |
|
ARM
|
218 |
258 |
1.88e0 |
SMART |
|
ARM
|
259 |
300 |
3.32e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dsg1b |
G |
A |
18: 20,532,644 (GRCm39) |
V563I |
probably damaging |
Het |
| Elovl4 |
ACT |
A |
9: 83,667,201 (GRCm39) |
|
probably null |
Het |
| Erp27 |
A |
T |
6: 136,896,901 (GRCm39) |
N100K |
possibly damaging |
Het |
| Fam171b |
T |
A |
2: 83,708,605 (GRCm39) |
I369K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,195,467 (GRCm39) |
E389G |
unknown |
Het |
| Gm14569 |
T |
A |
X: 35,696,085 (GRCm39) |
M875L |
probably benign |
Het |
| Gm5819 |
A |
G |
18: 8,694,429 (GRCm39) |
E118G |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,821,535 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
C |
A |
13: 12,428,229 (GRCm39) |
L789I |
possibly damaging |
Het |
| Hsd17b1 |
T |
C |
11: 100,969,529 (GRCm39) |
S59P |
probably damaging |
Het |
| Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,768,621 (GRCm39) |
V710D |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,888,238 (GRCm39) |
W92R |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,972,871 (GRCm39) |
N548D |
probably benign |
Het |
| Mfsd4b2 |
A |
G |
10: 39,797,527 (GRCm39) |
I276T |
possibly damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Myl12a |
G |
T |
17: 71,301,631 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,905,462 (GRCm39) |
E2045D |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,983,761 (GRCm39) |
T496A |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,565,752 (GRCm39) |
Y632H |
probably damaging |
Het |
| Or13c3 |
A |
T |
4: 52,855,636 (GRCm39) |
N292K |
probably damaging |
Het |
| Or2d4 |
A |
T |
7: 106,543,519 (GRCm39) |
S230T |
probably benign |
Het |
| Or4b13 |
T |
C |
2: 90,082,969 (GRCm39) |
Y121C |
probably damaging |
Het |
| Or5p52 |
C |
A |
7: 107,501,954 (GRCm39) |
A10E |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,901 (GRCm39) |
S155R |
possibly damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,599,385 (GRCm39) |
Y167F |
probably damaging |
Het |
| Pik3cg |
A |
C |
12: 32,244,708 (GRCm39) |
C915W |
probably damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,328,396 (GRCm39) |
T476A |
probably benign |
Het |
| Rapgef1 |
C |
T |
2: 29,609,701 (GRCm39) |
H675Y |
possibly damaging |
Het |
| Rpn2 |
T |
A |
2: 157,141,477 (GRCm39) |
V263D |
probably damaging |
Het |
| Rps13 |
A |
G |
7: 115,933,160 (GRCm39) |
L16P |
probably damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,942,861 (GRCm39) |
E373G |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,318,812 (GRCm39) |
|
probably null |
Het |
| Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,989,852 (GRCm39) |
|
probably null |
Het |
| Svil |
A |
G |
18: 5,090,855 (GRCm39) |
N915S |
probably damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,180 (GRCm39) |
L215P |
probably damaging |
Het |
| Tle6 |
G |
T |
10: 81,431,987 (GRCm39) |
P86T |
probably benign |
Het |
| Tph2 |
T |
C |
10: 114,915,910 (GRCm39) |
D421G |
probably benign |
Het |
| Trpm2 |
A |
C |
10: 77,771,824 (GRCm39) |
L605R |
probably benign |
Het |
| Vat1l |
T |
C |
8: 114,963,540 (GRCm39) |
|
probably null |
Het |
| Vdac3 |
T |
C |
8: 23,070,525 (GRCm39) |
N128D |
probably benign |
Het |
| Vegfb |
G |
A |
19: 6,964,767 (GRCm39) |
|
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,717 (GRCm39) |
N315K |
probably damaging |
Het |
|
| Other mutations in Rsph14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Rsph14
|
APN |
10 |
74,865,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01735:Rsph14
|
APN |
10 |
74,860,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Rsph14
|
APN |
10 |
74,793,618 (GRCm39) |
splice site |
probably benign |
|
|
IGL02534:Rsph14
|
APN |
10 |
74,793,466 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1215:Rsph14
|
UTSW |
10 |
74,860,898 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2060:Rsph14
|
UTSW |
10 |
74,865,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Rsph14
|
UTSW |
10 |
74,793,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3777:Rsph14
|
UTSW |
10 |
74,793,420 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3778:Rsph14
|
UTSW |
10 |
74,793,420 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3778:Rsph14
|
UTSW |
10 |
74,793,419 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3844:Rsph14
|
UTSW |
10 |
74,867,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5787:Rsph14
|
UTSW |
10 |
74,793,460 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6044:Rsph14
|
UTSW |
10 |
74,867,102 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6232:Rsph14
|
UTSW |
10 |
74,797,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7401:Rsph14
|
UTSW |
10 |
74,865,628 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7701:Rsph14
|
UTSW |
10 |
74,793,608 (GRCm39) |
nonsense |
probably null |
|
|
R8096:Rsph14
|
UTSW |
10 |
74,795,493 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8374:Rsph14
|
UTSW |
10 |
74,797,481 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8725:Rsph14
|
UTSW |
10 |
74,795,516 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9027:Rsph14
|
UTSW |
10 |
74,795,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Rsph14
|
UTSW |
10 |
74,797,553 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGTACTTTTCAGAACCAGG -3'
(R):5'- CTCTGGATGCCAATGCTATCG -3'
Sequencing Primer
(F):5'- GTACTTTTCAGAACCAGGTCCTTCTG -3'
(R):5'- ATCGAACCACTCCTGGAGTTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation