Incidental Mutation 'R7496:Syk'
| ID |
581092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syk
|
| Ensembl Gene |
ENSMUSG00000021457 |
| Gene Name |
spleen tyrosine kinase |
| Synonyms |
Sykb |
| MMRRC Submission |
045569-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
52737209-52802828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52766452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 179
(Q179R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055087]
[ENSMUST00000118756]
[ENSMUST00000120135]
|
| AlphaFold |
P48025 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055087
AA Change: Q179R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060828
Gene: ENSMUSG00000021457
AA Change: Q179R
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
12 |
97 |
4.51e-26 |
SMART |
|
SH2
|
165 |
249 |
5.06e-29 |
SMART |
|
TyrKc
|
365 |
620 |
7.61e-120 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118756
AA Change: Q179R
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112914
Gene: ENSMUSG00000021457
AA Change: Q179R
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
12 |
97 |
4.51e-26 |
SMART |
|
SH2
|
165 |
249 |
5.06e-29 |
SMART |
|
TyrKc
|
342 |
582 |
2.68e-106 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120135
AA Change: Q179R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113852
Gene: ENSMUSG00000021457
AA Change: Q179R
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
12 |
97 |
4.51e-26 |
SMART |
|
SH2
|
165 |
249 |
5.06e-29 |
SMART |
|
TyrKc
|
365 |
620 |
7.61e-120 |
SMART |
|
| Meta Mutation Damage Score |
0.2004 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous null mice have high rates of postnatal lethality, exhibit developmental defects of B cells, T cells and osteoclasts, and have defective dendritic cell cross-presentation of antigens from necrotic cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,220 (GRCm39) |
I626V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ago1 |
C |
T |
4: 126,355,545 (GRCm39) |
R88H |
probably benign |
Het |
| Ankrd6 |
C |
T |
4: 32,810,299 (GRCm39) |
D461N |
probably damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,404,417 (GRCm39) |
N202D |
probably benign |
Het |
| Bnip2 |
A |
G |
9: 69,910,686 (GRCm39) |
I245V |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,110,264 (GRCm39) |
D340G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,411,066 (GRCm39) |
E1653G |
probably damaging |
Het |
| Dhdds |
C |
A |
4: 133,698,565 (GRCm39) |
Q256H |
possibly damaging |
Het |
| Dsc2 |
A |
T |
18: 20,168,451 (GRCm39) |
C669* |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,135,015 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,044,460 (GRCm39) |
S276P |
probably benign |
Het |
| Galc |
A |
T |
12: 98,225,497 (GRCm39) |
L31* |
probably null |
Het |
| Gm527 |
C |
T |
12: 64,969,184 (GRCm39) |
R204C |
possibly damaging |
Het |
| Hivep3 |
G |
A |
4: 119,989,599 (GRCm39) |
D2017N |
probably benign |
Het |
| Inf2 |
C |
T |
12: 112,566,752 (GRCm39) |
R106C |
probably damaging |
Het |
| Itgb1 |
A |
G |
8: 129,446,786 (GRCm39) |
K434E |
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,350,020 (GRCm39) |
N700T |
probably benign |
Het |
| Macc1 |
T |
G |
12: 119,410,734 (GRCm39) |
F501V |
possibly damaging |
Het |
| Man2a2 |
G |
A |
7: 80,002,745 (GRCm39) |
H1079Y |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,213,089 (GRCm39) |
V82I |
possibly damaging |
Het |
| Nr2f1 |
T |
C |
13: 78,343,361 (GRCm39) |
E301G |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,405,715 (GRCm39) |
R96G |
probably damaging |
Het |
| Or2ag13 |
A |
G |
7: 106,313,435 (GRCm39) |
L151P |
probably benign |
Het |
| Or4a73 |
T |
C |
2: 89,421,040 (GRCm39) |
I140V |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,212,004 (GRCm39) |
V844I |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,787,333 (GRCm39) |
E570G |
possibly damaging |
Het |
| R3hdm4 |
A |
T |
10: 79,752,708 (GRCm39) |
L4Q |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,415 (GRCm39) |
K639R |
probably null |
Het |
| Robo3 |
A |
T |
9: 37,339,121 (GRCm39) |
C257S |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,673,087 (GRCm39) |
L772Q |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,553,018 (GRCm39) |
D59G |
possibly damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,579 (GRCm39) |
T450A |
probably benign |
Het |
| Sdhd |
T |
C |
9: 50,508,385 (GRCm39) |
*160W |
probably null |
Het |
| Sgca |
T |
C |
11: 94,862,070 (GRCm39) |
E194G |
possibly damaging |
Het |
| Shtn1 |
G |
A |
19: 59,016,616 (GRCm39) |
R228C |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,054,132 (GRCm39) |
S22T |
probably benign |
Het |
| Slc26a8 |
C |
A |
17: 28,863,824 (GRCm39) |
G645V |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,479,988 (GRCm39) |
E411G |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,550 (GRCm39) |
Y217H |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,022,677 (GRCm39) |
I959M |
probably benign |
Het |
| Trim65 |
T |
A |
11: 116,017,142 (GRCm39) |
N440I |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,301,917 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,083,284 (GRCm39) |
S276P |
possibly damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,430 (GRCm39) |
S295P |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,511,481 (GRCm39) |
Q77R |
probably benign |
Het |
| Xylb |
T |
A |
9: 119,220,882 (GRCm39) |
*552R |
probably null |
Het |
| Zfp932 |
C |
T |
5: 110,156,694 (GRCm39) |
P131S |
probably damaging |
Het |
|
| Other mutations in Syk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01478:Syk
|
APN |
13 |
52,778,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01522:Syk
|
APN |
13 |
52,797,097 (GRCm39) |
missense |
probably benign |
|
|
IGL01957:Syk
|
APN |
13 |
52,785,776 (GRCm39) |
missense |
probably benign |
|
|
IGL01962:Syk
|
APN |
13 |
52,764,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02613:Syk
|
APN |
13 |
52,797,076 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02824:Syk
|
APN |
13 |
52,777,319 (GRCm39) |
splice site |
probably benign |
|
|
IGL03130:Syk
|
APN |
13 |
52,776,768 (GRCm39) |
missense |
probably benign |
0.12 |
|
Apricot
|
UTSW |
13 |
52,794,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Poppy
|
UTSW |
13 |
52,794,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Sisyphus
|
UTSW |
13 |
52,794,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Syk
|
UTSW |
13 |
52,794,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Syk
|
UTSW |
13 |
52,794,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Syk
|
UTSW |
13 |
52,794,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Syk
|
UTSW |
13 |
52,794,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Syk
|
UTSW |
13 |
52,794,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Syk
|
UTSW |
13 |
52,776,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Syk
|
UTSW |
13 |
52,765,274 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2919:Syk
|
UTSW |
13 |
52,765,157 (GRCm39) |
missense |
probably benign |
|
|
R3413:Syk
|
UTSW |
13 |
52,785,775 (GRCm39) |
missense |
probably benign |
|
|
R3695:Syk
|
UTSW |
13 |
52,776,801 (GRCm39) |
splice site |
probably null |
|
|
R4363:Syk
|
UTSW |
13 |
52,794,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Syk
|
UTSW |
13 |
52,766,295 (GRCm39) |
intron |
probably benign |
|
|
R4755:Syk
|
UTSW |
13 |
52,796,022 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4806:Syk
|
UTSW |
13 |
52,786,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4817:Syk
|
UTSW |
13 |
52,765,242 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4903:Syk
|
UTSW |
13 |
52,765,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Syk
|
UTSW |
13 |
52,766,484 (GRCm39) |
nonsense |
probably null |
|
|
R5066:Syk
|
UTSW |
13 |
52,796,018 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5114:Syk
|
UTSW |
13 |
52,765,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Syk
|
UTSW |
13 |
52,795,962 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5323:Syk
|
UTSW |
13 |
52,785,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5705:Syk
|
UTSW |
13 |
52,765,083 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6190:Syk
|
UTSW |
13 |
52,765,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6892:Syk
|
UTSW |
13 |
52,786,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6932:Syk
|
UTSW |
13 |
52,766,495 (GRCm39) |
splice site |
probably null |
|
|
R6977:Syk
|
UTSW |
13 |
52,787,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7650:Syk
|
UTSW |
13 |
52,765,131 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8081:Syk
|
UTSW |
13 |
52,792,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8199:Syk
|
UTSW |
13 |
52,778,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8350:Syk
|
UTSW |
13 |
52,774,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8381:Syk
|
UTSW |
13 |
52,787,085 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8420:Syk
|
UTSW |
13 |
52,778,763 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8450:Syk
|
UTSW |
13 |
52,774,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Syk
|
UTSW |
13 |
52,766,480 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9689:Syk
|
UTSW |
13 |
52,778,808 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Syk
|
UTSW |
13 |
52,786,949 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTGATAGGACCTGGGAC -3'
(R):5'- CAATCTTTACGGGCAGGCTAG -3'
Sequencing Primer
(F):5'- ACAGATGGGTCTAATGTCTTTCTACC -3'
(R):5'- TCTTTACGGGCAGGCTAGATAAAAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation