Incidental Mutation 'R7905:Susd2'
| ID |
610228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Susd2
|
| Ensembl Gene |
ENSMUSG00000006342 |
| Gene Name |
sushi domain containing 2 |
| Synonyms |
1200011D11Rik |
| MMRRC Submission |
045957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R7905 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75472540-75479842 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 75475491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 471
(L471*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077610]
[ENSMUST00000095541]
|
| AlphaFold |
Q9DBX3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077610
AA Change: L351*
|
| SMART Domains |
Protein: ENSMUSP00000076802
Gene: ENSMUSG00000006342
AA Change: L351*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
AMOP
|
162 |
310 |
4.09e-82 |
SMART |
|
VWD
|
313 |
489 |
1.9e-19 |
SMART |
|
CCP
|
602 |
655 |
3.37e-17 |
SMART |
|
transmembrane domain
|
663 |
685 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000095541
AA Change: L471*
|
| SMART Domains |
Protein: ENSMUSP00000093197
Gene: ENSMUSG00000006342
AA Change: L471*
| Domain | Start | End | E-Value | Type |
|---|
|
SO
|
25 |
64 |
4.77e-2 |
SMART |
|
AMOP
|
282 |
430 |
4.09e-82 |
SMART |
|
VWD
|
433 |
609 |
1.9e-19 |
SMART |
|
CCP
|
722 |
775 |
3.37e-17 |
SMART |
|
transmembrane domain
|
783 |
805 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
T |
C |
17: 33,652,801 (GRCm39) |
V287A |
possibly damaging |
Het |
| Adcy10 |
T |
A |
1: 165,340,737 (GRCm39) |
|
probably null |
Het |
| Aox1 |
G |
A |
1: 58,143,557 (GRCm39) |
S1225N |
possibly damaging |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,988 (GRCm39) |
S96R |
probably benign |
Het |
| Bpifa5 |
T |
C |
2: 154,007,508 (GRCm39) |
I150T |
probably damaging |
Het |
| Ccdc28a |
A |
T |
10: 18,094,076 (GRCm39) |
V181D |
probably benign |
Het |
| Cd40 |
T |
C |
2: 164,904,245 (GRCm39) |
Y31H |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,390,352 (GRCm39) |
T2032A |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 18,907,100 (GRCm39) |
K158R |
possibly damaging |
Het |
| Degs1 |
A |
C |
1: 182,106,601 (GRCm39) |
N255K |
possibly damaging |
Het |
| Dll3 |
T |
G |
7: 28,000,960 (GRCm39) |
I32L |
possibly damaging |
Het |
| Dsg4 |
A |
T |
18: 20,587,726 (GRCm39) |
I278F |
probably damaging |
Het |
| Ets2 |
T |
A |
16: 95,507,304 (GRCm39) |
I6N |
probably damaging |
Het |
| Gbp4 |
A |
G |
5: 105,268,953 (GRCm39) |
F400S |
probably damaging |
Het |
| Golgb1 |
C |
T |
16: 36,734,047 (GRCm39) |
A1139V |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,046,419 (GRCm39) |
L489H |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,831 (GRCm39) |
D99G |
probably benign |
Het |
| Ldhc |
A |
G |
7: 46,524,955 (GRCm39) |
|
probably null |
Het |
| Mief1 |
C |
G |
15: 80,133,599 (GRCm39) |
P219A |
probably damaging |
Het |
| Myh11 |
A |
T |
16: 14,025,545 (GRCm39) |
Y1408* |
probably null |
Het |
| Myo1b |
A |
G |
1: 51,803,043 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
A |
T |
9: 72,584,661 (GRCm39) |
K121* |
probably null |
Het |
| Nek9 |
A |
C |
12: 85,352,370 (GRCm39) |
M831R |
probably damaging |
Het |
| Nf1 |
G |
A |
11: 79,437,938 (GRCm39) |
A83T |
possibly damaging |
Het |
| Or6c203 |
A |
T |
10: 129,010,056 (GRCm39) |
I278N |
probably damaging |
Het |
| Osbpl10 |
T |
C |
9: 114,891,078 (GRCm39) |
|
probably null |
Het |
| Pcdhb6 |
T |
C |
18: 37,467,607 (GRCm39) |
L176P |
probably benign |
Het |
| Plxnb1 |
G |
A |
9: 108,938,300 (GRCm39) |
V1285M |
probably damaging |
Het |
| Psg26 |
T |
A |
7: 18,209,242 (GRCm39) |
M389L |
probably benign |
Het |
| Slc49a4 |
G |
A |
16: 35,589,320 (GRCm39) |
P98S |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,098,495 (GRCm39) |
E543G |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,131,936 (GRCm39) |
I358T |
probably benign |
Het |
| Spink7 |
G |
T |
18: 62,725,487 (GRCm39) |
C85* |
probably null |
Het |
| Stard9 |
T |
C |
2: 120,526,562 (GRCm39) |
W940R |
not run |
Het |
| Taf2 |
A |
T |
15: 54,910,828 (GRCm39) |
D615E |
possibly damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,192,659 (GRCm39) |
S14P |
|
Het |
| Tha1 |
A |
C |
11: 117,761,893 (GRCm39) |
V116G |
possibly damaging |
Het |
| Trim46 |
T |
C |
3: 89,151,633 (GRCm39) |
H50R |
probably damaging |
Het |
| Trit1 |
A |
G |
4: 122,910,508 (GRCm39) |
K36E |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,415,335 (GRCm39) |
M268K |
probably benign |
Het |
| Ufc1 |
T |
A |
1: 171,117,508 (GRCm39) |
K68N |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 74,992,820 (GRCm39) |
T225A |
probably benign |
Het |
| Zfp768 |
T |
C |
7: 126,943,831 (GRCm39) |
E102G |
probably damaging |
Het |
|
| Other mutations in Susd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Susd2
|
APN |
10 |
75,473,882 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00907:Susd2
|
APN |
10 |
75,476,765 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01155:Susd2
|
APN |
10 |
75,476,726 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01677:Susd2
|
APN |
10 |
75,475,265 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02146:Susd2
|
APN |
10 |
75,474,267 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02273:Susd2
|
APN |
10 |
75,476,772 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02386:Susd2
|
APN |
10 |
75,475,929 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02475:Susd2
|
APN |
10 |
75,473,333 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03218:Susd2
|
APN |
10 |
75,478,459 (GRCm39) |
missense |
probably benign |
|
|
PIT4418001:Susd2
|
UTSW |
10 |
75,474,183 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0135:Susd2
|
UTSW |
10 |
75,474,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Susd2
|
UTSW |
10 |
75,475,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Susd2
|
UTSW |
10 |
75,474,437 (GRCm39) |
splice site |
probably benign |
|
|
R0608:Susd2
|
UTSW |
10 |
75,474,069 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0636:Susd2
|
UTSW |
10 |
75,475,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Susd2
|
UTSW |
10 |
75,473,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Susd2
|
UTSW |
10 |
75,473,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Susd2
|
UTSW |
10 |
75,473,878 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1634:Susd2
|
UTSW |
10 |
75,473,389 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1866:Susd2
|
UTSW |
10 |
75,475,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4354:Susd2
|
UTSW |
10 |
75,475,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4451:Susd2
|
UTSW |
10 |
75,475,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Susd2
|
UTSW |
10 |
75,473,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5546:Susd2
|
UTSW |
10 |
75,478,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5768:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5769:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5770:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5771:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5960:Susd2
|
UTSW |
10 |
75,475,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6152:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6153:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6259:Susd2
|
UTSW |
10 |
75,473,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Susd2
|
UTSW |
10 |
75,473,408 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7106:Susd2
|
UTSW |
10 |
75,473,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Susd2
|
UTSW |
10 |
75,475,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Susd2
|
UTSW |
10 |
75,478,402 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7326:Susd2
|
UTSW |
10 |
75,478,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8512:Susd2
|
UTSW |
10 |
75,475,485 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8888:Susd2
|
UTSW |
10 |
75,475,452 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8895:Susd2
|
UTSW |
10 |
75,475,452 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
X0025:Susd2
|
UTSW |
10 |
75,476,406 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Susd2
|
UTSW |
10 |
75,476,312 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATTGTCTTCTTGGACGGCC -3'
(R):5'- TGACTGCCGCAACTACAGAC -3'
Sequencing Primer
(F):5'- TTCTTGGACGGCCACTGC -3'
(R):5'- CGCCTGGGTAGGTGCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation