Mutagenetix > Incidental Mutations

Incidental Mutation 'R7106:Susd2'

551187

Institutional Source

Beutler Lab

Gene Symbol

Susd2

Ensembl Gene

ENSMUSG00000006342

Gene Name

sushi domain containing 2

Synonyms

1200011D11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75636706-75644008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75638053 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 689 (D689E)

Ref Sequence

ENSEMBL: ENSMUSP00000093197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077610] [ENSMUST00000095541]

Predicted Effect

probably damaging
Transcript: ENSMUST00000077610
AA Change: D569E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076802
Gene: ENSMUSG00000006342
AA Change: D569E

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 damaging
Transcript: ENSMUST00000095541
AA Change: D689E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093197
Gene: ENSMUSG00000006342
AA Change: D689E

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	T	C	4: 49,541,258	Y138C	probably damaging	Het
Ano7	A	C	1: 93,374,983		probably null	Het
Arvcf	T	A	16: 18,399,049	V497E	probably damaging	Het
Atad2	A	G	15: 58,116,766		probably null	Het
Brinp1	C	T	4: 68,829,378	A163T	probably benign	Het
Catsperd	C	A	17: 56,658,070		probably null	Het
Ccm2l	A	G	2: 153,070,651	H70R	possibly damaging	Het
Cgnl1	G	A	9: 71,725,733	T112I	probably benign	Het
Chid1	T	C	7: 141,522,660	H220R	probably benign	Het
Clca1	A	G	3: 145,027,429	V106A	probably damaging	Het
Cldn23	A	C	8: 35,825,915	S140A	probably benign	Het
Dennd2c	T	C	3: 103,131,577	S14P	possibly damaging	Het
Det1	T	C	7: 78,843,464	D264G	probably damaging	Het
Dmwd	T	C	7: 19,080,529	V368A	probably damaging	Het
Dnah11	T	C	12: 117,961,149	K3362E	probably benign	Het
Dnah8	T	C	17: 30,741,178	F2208L	probably damaging	Het
Dnaja3	T	C	16: 4,705,934	I477T	probably benign	Het
Dnmt3a	A	G	12: 3,897,591	K482E	probably damaging	Het
Dock7	A	G	4: 98,967,326	I1493T	unknown	Het
Ehbp1l1	A	G	19: 5,718,737	V846A	probably benign	Het
Fbxl4	T	A	4: 22,427,140		probably null	Het
Fgd2	T	A	17: 29,376,970	L534*	probably null	Het
Fgfr3	T	C	5: 33,731,414	V349A	probably damaging	Het
Gal3st1	A	T	11: 3,998,509	I239F	probably damaging	Het
Gpatch3	C	A	4: 133,578,203	H250N	probably benign	Het
Guca1b	A	T	17: 47,391,311	K230*	probably null	Het
Itga3	G	T	11: 95,055,873	L737I	probably benign	Het
Kmt5c	A	G	7: 4,742,706	K122E	probably damaging	Het
Kpna4	G	A	3: 69,079,464	Q531*	probably null	Het
Lctl	A	G	9: 64,132,837	E410G	probably benign	Het
Lhx1	T	C	11: 84,522,077	N128D	probably benign	Het
Lifr	A	G	15: 7,172,924	N349D	probably benign	Het
Map2	G	A	1: 66,410,744	A209T	possibly damaging	Het
Mif4gd	G	A	11: 115,611,911	A25V	probably damaging	Het
Mug2	T	C	6: 122,082,721	S1353P	probably damaging	Het
Myh9	A	G	15: 77,775,121	C931R	probably benign	Het
Nelfe	T	G	17: 34,852,419		probably null	Het
Nrf1	A	G	6: 30,102,184	S161G	probably benign	Het
Pik3c2a	G	A	7: 116,418,133	Q130*	probably null	Het
Prex2	T	A	1: 11,136,793	M525K	probably benign	Het
Psme2	A	G	14: 55,588,237	S165P	probably benign	Het
Rapgef2	A	G	3: 79,066,608	F1477S	probably benign	Het
Rasef	A	T	4: 73,727,627	C502S	probably damaging	Het
Rpap2	T	A	5: 107,633,122	L565*	probably null	Het
Sav1	A	G	12: 69,984,616	I44T	probably damaging	Het
Selp	T	A	1: 164,126,422	I97N	probably benign	Het
Serpina1d	A	G	12: 103,765,721	F293S	probably benign	Het
Sin3b	T	C	8: 72,724,137	F65L	possibly damaging	Het
Sorcs3	G	C	19: 48,705,963	G559R	probably damaging	Het
Tas1r2	A	T	4: 139,662,049	M448L	probably benign	Het
Tbc1d30	A	T	10: 121,301,992	I181N	possibly damaging	Het
Tcea3	A	G	4: 136,271,368	T318A	probably damaging	Het
Tomm70a	T	C	16: 57,140,758	V358A	probably damaging	Het
Tpp1	A	C	7: 105,749,911	S153A	possibly damaging	Het
Trip13	C	T	13: 73,914,532	V387I	probably benign	Het
Ttn	T	C	2: 76,797,488	I14704V	probably benign	Het
Uimc1	C	A	13: 55,050,815	C516F	possibly damaging	Het
Vit	A	G	17: 78,586,799	N210S	probably benign	Het
Vmn1r22	G	T	6: 57,900,311	T227K	probably damaging	Het
Vmn2r5	A	G	3: 64,491,683	I625T	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,895,021		probably benign	Het
Zfp384	T	C	6: 125,024,259	L98P	probably benign	Het
Zfp809	G	T	9: 22,236,224	K51N	probably benign	Het

Other mutations in Susd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Susd2	APN	10	75638048	missense	probably benign	0.02
IGL00907:Susd2	APN	10	75640931	missense	probably benign	0.04
IGL01155:Susd2	APN	10	75640892	missense	possibly damaging	0.87
IGL01677:Susd2	APN	10	75639431	missense	possibly damaging	0.91
IGL02146:Susd2	APN	10	75638433	missense	possibly damaging	0.79
IGL02273:Susd2	APN	10	75640938	missense	possibly damaging	0.94
IGL02386:Susd2	APN	10	75640095	missense	probably damaging	0.97
IGL02475:Susd2	APN	10	75637499	critical splice donor site	probably null
IGL03218:Susd2	APN	10	75642625	missense	probably benign
PIT4418001:Susd2	UTSW	10	75638349	missense	probably benign	0.24
R0135:Susd2	UTSW	10	75638514	missense	probably damaging	1.00
R0396:Susd2	UTSW	10	75639911	missense	probably damaging	1.00
R0401:Susd2	UTSW	10	75638603	splice site	probably benign
R0608:Susd2	UTSW	10	75638235	missense	probably benign	0.45
R0636:Susd2	UTSW	10	75639350	missense	probably damaging	1.00
R1470:Susd2	UTSW	10	75638054	missense	probably damaging	1.00
R1470:Susd2	UTSW	10	75638054	missense	probably damaging	1.00
R1619:Susd2	UTSW	10	75638044	missense	possibly damaging	0.66
R1634:Susd2	UTSW	10	75637555	missense	probably benign	0.04
R1866:Susd2	UTSW	10	75639732	missense	probably damaging	0.98
R4354:Susd2	UTSW	10	75639728	missense	probably damaging	0.99
R4451:Susd2	UTSW	10	75639398	missense	probably damaging	1.00
R4721:Susd2	UTSW	10	75638130	missense	probably benign	0.00
R5546:Susd2	UTSW	10	75642218	missense	probably benign	0.01
R5768:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R5769:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R5770:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R5771:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R5960:Susd2	UTSW	10	75639936	missense	probably damaging	1.00
R6152:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R6153:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R6259:Susd2	UTSW	10	75638046	missense	probably damaging	1.00
R6291:Susd2	UTSW	10	75637574	missense	possibly damaging	0.61
R7232:Susd2	UTSW	10	75639851	missense	probably damaging	1.00
R7297:Susd2	UTSW	10	75642568	missense	probably benign	0.19
R7326:Susd2	UTSW	10	75642565	missense	probably benign	0.00
R7905:Susd2	UTSW	10	75639657	nonsense	probably null
R8512:Susd2	UTSW	10	75639651	missense	probably benign	0.13
X0025:Susd2	UTSW	10	75640572	nonsense	probably null
Z1177:Susd2	UTSW	10	75640478	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AACTGCTGGCCACTGAATG -3'
(R):5'- AGAGAAACTTGTCTGTGCCCAC -3'

Sequencing Primer
(F):5'- TGCTAGGCGATCTGAGA -3'
(R):5'- AGGGGCTGTTTCCAACAC -3'

Posted On

2019-05-15