Incidental Mutation 'R8512:Susd2'
| ID |
655938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Susd2
|
| Ensembl Gene |
ENSMUSG00000006342 |
| Gene Name |
sushi domain containing 2 |
| Synonyms |
1200011D11Rik |
| MMRRC Submission |
067846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R8512 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
75472540-75479842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 75475485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 473
(T473I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077610]
[ENSMUST00000095541]
|
| AlphaFold |
Q9DBX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077610
AA Change: T353I
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000076802
Gene: ENSMUSG00000006342
AA Change: T353I
| 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 benign
Transcript: ENSMUST00000095541
AA Change: T473I
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000093197
Gene: ENSMUSG00000006342
AA Change: T473I
| 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: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,125,760 (GRCm39) |
|
probably null |
Het |
| Akap13 |
T |
C |
7: 75,260,834 (GRCm39) |
S350P |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,154 (GRCm39) |
F553L |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,661 (GRCm39) |
T548S |
probably benign |
Het |
| Chtf8 |
G |
A |
8: 107,612,066 (GRCm39) |
T291I |
probably benign |
Het |
| Ckmt1 |
A |
T |
2: 121,191,689 (GRCm39) |
R286S |
probably damaging |
Het |
| Dnajb2 |
C |
T |
1: 75,218,075 (GRCm39) |
R191W |
|
Het |
| Dtnbp1 |
G |
T |
13: 45,075,867 (GRCm39) |
A292E |
probably benign |
Het |
| Esrrg |
T |
G |
1: 187,775,777 (GRCm39) |
Y101* |
probably null |
Het |
| Etaa1 |
G |
A |
11: 17,897,442 (GRCm39) |
S225L |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,243,121 (GRCm39) |
Y335C |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,891,730 (GRCm39) |
D344G |
possibly damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
C |
T |
15: 63,706,864 (GRCm39) |
V101I |
probably null |
Het |
| Gsdmc4 |
A |
G |
15: 63,763,808 (GRCm39) |
C430R |
probably damaging |
Het |
| Irak4 |
A |
C |
15: 94,464,659 (GRCm39) |
I410L |
probably benign |
Het |
| Kirrel1 |
A |
G |
3: 86,995,534 (GRCm39) |
V436A |
probably benign |
Het |
| Lrrc30 |
T |
A |
17: 67,938,947 (GRCm39) |
Q211L |
probably damaging |
Het |
| Map4k1 |
C |
T |
7: 28,695,583 (GRCm39) |
H512Y |
possibly damaging |
Het |
| Matn3 |
T |
A |
12: 9,011,183 (GRCm39) |
S365T |
probably benign |
Het |
| Msantd2 |
T |
C |
9: 37,434,231 (GRCm39) |
I358T |
possibly damaging |
Het |
| Msantd5 |
T |
A |
11: 51,125,487 (GRCm39) |
S137T |
probably benign |
Het |
| Msx3 |
G |
T |
7: 139,628,884 (GRCm39) |
A10E |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,549,488 (GRCm39) |
T5602A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,081,187 (GRCm39) |
S1268P |
probably benign |
Het |
| Mynn |
C |
T |
3: 30,670,798 (GRCm39) |
P557S |
probably damaging |
Het |
| Naglu |
T |
C |
11: 100,961,168 (GRCm39) |
V73A |
probably benign |
Het |
| Ncor1 |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTG |
11: 62,324,437 (GRCm39) |
|
probably benign |
Het |
| Or10al3 |
T |
A |
17: 38,012,071 (GRCm39) |
F170Y |
probably damaging |
Het |
| Or6c75 |
T |
A |
10: 129,337,496 (GRCm39) |
S240T |
probably damaging |
Het |
| P2rx3 |
C |
T |
2: 84,854,755 (GRCm39) |
E100K |
probably damaging |
Het |
| Pnisr |
C |
T |
4: 21,870,372 (GRCm39) |
Q375* |
probably null |
Het |
| Psmb9 |
C |
T |
17: 34,402,602 (GRCm39) |
C126Y |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,400,783 (GRCm39) |
F1085L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,697,534 (GRCm39) |
Y677C |
probably damaging |
Het |
| Rftn2 |
G |
A |
1: 55,253,324 (GRCm39) |
P93L |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,561,051 (GRCm39) |
M263L |
unknown |
Het |
| Sec24c |
T |
C |
14: 20,740,920 (GRCm39) |
V722A |
possibly damaging |
Het |
| Slc2a7 |
T |
C |
4: 150,247,752 (GRCm39) |
L384P |
probably benign |
Het |
| Slc6a11 |
T |
C |
6: 114,215,402 (GRCm39) |
L434P |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,648,826 (GRCm39) |
E1869G |
possibly damaging |
Het |
| Synpo |
C |
T |
18: 60,735,483 (GRCm39) |
R821H |
probably damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,012,627 (GRCm39) |
V1184I |
probably benign |
Het |
| Tle1 |
T |
G |
4: 72,040,670 (GRCm39) |
K630Q |
possibly damaging |
Het |
| Traf3 |
A |
T |
12: 111,228,426 (GRCm39) |
T546S |
probably benign |
Het |
| Ttc17 |
G |
A |
2: 94,202,108 (GRCm39) |
T398M |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,698,692 (GRCm39) |
N136K |
|
Het |
| Ttn |
T |
C |
2: 76,747,111 (GRCm39) |
E4646G |
probably benign |
Het |
| Xbp1 |
T |
C |
11: 5,474,266 (GRCm39) |
S156P |
probably damaging |
Het |
| Yipf7 |
C |
T |
5: 69,674,387 (GRCm39) |
V253I |
probably benign |
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 |
|
R7905:Susd2
|
UTSW |
10 |
75,475,491 (GRCm39) |
nonsense |
probably null |
|
|
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'- AATTGTCTTCTTGGACGGCCAC -3'
(R):5'- TGACTGCCGCAACTACAGAC -3'
Sequencing Primer
(F):5'- ACTGCAGTCAGCCCTGTG -3'
(R):5'- TAGGTGCTGGCCTGGGTAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation