Incidental Mutation 'R2890:Srek1ip1'
| ID |
260075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srek1ip1
|
| Ensembl Gene |
ENSMUSG00000021716 |
| Gene Name |
splicing regulatory glutamine/lysine-rich protein 1interacting protein 1 |
| Synonyms |
Sfrs12ip1, 3110031B13Rik, Srsf12ip1 |
| MMRRC Submission |
040478-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R2890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104953696-104975805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104970758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 70
(I70L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022230]
[ENSMUST00000156105]
|
| AlphaFold |
Q4V9W2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022230
AA Change: I70L
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000022230
Gene: ENSMUSG00000021716
AA Change: I70L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2HC
|
14 |
30 |
4.68e-2 |
SMART |
|
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
141 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147061
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156105
|
| SMART Domains |
Protein: ENSMUSP00000122592
Gene: ENSMUSG00000021716
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2HC
|
14 |
30 |
4.68e-2 |
SMART |
|
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(14) : Targeted, other(4) Gene trapped(10)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
| A1cf |
A |
G |
19: 31,895,417 (GRCm39) |
I167V |
probably benign |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Amdhd1 |
T |
C |
10: 93,363,126 (GRCm39) |
K321E |
probably benign |
Het |
| Baz1a |
T |
C |
12: 54,945,302 (GRCm39) |
H1351R |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,496,026 (GRCm39) |
D127G |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,048 (GRCm39) |
Y356C |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,673,800 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,583,325 (GRCm39) |
L474P |
probably damaging |
Het |
| Fzd7 |
C |
T |
1: 59,523,593 (GRCm39) |
A492V |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,754,479 (GRCm39) |
L876P |
probably damaging |
Het |
| Grik4 |
T |
C |
9: 42,582,515 (GRCm39) |
T144A |
probably damaging |
Het |
| Gusb |
T |
C |
5: 130,029,343 (GRCm39) |
H146R |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,276,885 (GRCm39) |
V2835A |
probably damaging |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Lcn10 |
T |
C |
2: 25,573,642 (GRCm39) |
L73P |
probably damaging |
Het |
| Nostrin |
A |
G |
2: 69,011,249 (GRCm39) |
T347A |
probably benign |
Het |
| Or4k41 |
A |
T |
2: 111,279,634 (GRCm39) |
I50F |
probably benign |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,379 (GRCm39) |
C791Y |
probably benign |
Het |
| Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
| Rbsn |
C |
T |
6: 92,184,104 (GRCm39) |
V70M |
possibly damaging |
Het |
| Slc25a1 |
A |
T |
16: 17,743,963 (GRCm39) |
L251Q |
probably damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,937,849 (GRCm39) |
S278P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,726,498 (GRCm39) |
|
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
| Vmn2r66 |
C |
T |
7: 84,661,027 (GRCm39) |
|
probably null |
Het |
| Ylpm1 |
G |
T |
12: 85,076,587 (GRCm39) |
R646L |
probably damaging |
Het |
| Zfp51 |
C |
G |
17: 21,684,118 (GRCm39) |
C244W |
probably damaging |
Het |
| Zfp619 |
C |
A |
7: 39,184,393 (GRCm39) |
T141K |
probably benign |
Het |
|
| Other mutations in Srek1ip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02617:Srek1ip1
|
APN |
13 |
104,973,984 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
B6584:Srek1ip1
|
UTSW |
13 |
104,953,882 (GRCm39) |
splice site |
probably benign |
|
|
R6019:Srek1ip1
|
UTSW |
13 |
104,970,830 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6438:Srek1ip1
|
UTSW |
13 |
104,973,878 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7916:Srek1ip1
|
UTSW |
13 |
104,973,981 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8332:Srek1ip1
|
UTSW |
13 |
104,970,757 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8369:Srek1ip1
|
UTSW |
13 |
104,970,798 (GRCm39) |
missense |
probably benign |
|
|
R9099:Srek1ip1
|
UTSW |
13 |
104,973,964 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCACTGTGTTTGAGATTTTCAGAG -3'
(R):5'- GAGGACTTTGCTAGTTCACTAAAC -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CATCTCATTCTCATGAAGAAGACATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation