Mutagenetix > Incidental Mutation

Incidental Mutation 'R1634:Susd2'

172998

Institutional Source

Beutler Lab

Gene Symbol

Susd2

Ensembl Gene

ENSMUSG00000006342

Gene Name

sushi domain containing 2

Synonyms

1200011D11Rik

MMRRC Submission

039671-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R1634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75472540-75479842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75473389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 675 (V675A)

Ref Sequence

ENSEMBL: ENSMUSP00000076802 (fasta)

Gene Model

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

AlphaFold

Q9DBX3

PDB Structure

Solution structure of RSGI RUH-041, a SMB-like domain from mouse cDNA [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000077610
AA Change: V675A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000076802
Gene: ENSMUSG00000006342
AA Change: V675A

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: V795A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000093197
Gene: ENSMUSG00000006342
AA Change: V795A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219733

Meta Mutation Damage Score

0.0750

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.4%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,295,180 (GRCm39)	F222I	probably damaging	Het
Adam34	A	T	8: 44,105,127 (GRCm39)	C173S	possibly damaging	Het
Ahi1	T	C	10: 20,841,592 (GRCm39)	V293A	probably damaging	Het
AI182371	A	T	2: 34,976,497 (GRCm39)	Y223N	probably damaging	Het
Asmt	C	A	X: 169,109,564 (GRCm39)	F181L	probably damaging	Het
Axin1	T	A	17: 26,406,965 (GRCm39)	H519Q	probably damaging	Het
Cdc5l	A	T	17: 45,715,632 (GRCm39)	V660E	probably damaging	Het
Cep152	C	T	2: 125,425,809 (GRCm39)	R852H	probably benign	Het
Cpne4	T	C	9: 104,866,778 (GRCm39)	V230A	possibly damaging	Het
Cttnbp2	A	T	6: 18,408,656 (GRCm39)	N988K	probably benign	Het
D430041D05Rik	A	G	2: 104,051,556 (GRCm39)	I767T	probably damaging	Het
Dgki	A	G	6: 36,892,425 (GRCm39)	M851T	probably benign	Het
Dnah8	T	C	17: 30,932,072 (GRCm39)		probably null	Het
Dscaml1	A	G	9: 45,584,047 (GRCm39)	E504G	probably damaging	Het
Dzank1	G	A	2: 144,323,589 (GRCm39)	A618V	probably benign	Het
Entrep3	A	C	3: 89,095,401 (GRCm39)	Y511S	probably damaging	Het
Fat2	T	A	11: 55,158,510 (GRCm39)	S3403C	probably damaging	Het
Fat2	C	T	11: 55,175,545 (GRCm39)	V1723I	probably benign	Het
Flt1	A	T	5: 147,613,240 (GRCm39)	F334I	probably damaging	Het
Galnt12	G	T	4: 47,108,585 (GRCm39)		probably null	Het
Gzmc	T	C	14: 56,469,737 (GRCm39)	I188V	possibly damaging	Het
Herc1	T	C	9: 66,380,820 (GRCm39)	S3566P	possibly damaging	Het
Hoxb4	C	A	11: 96,211,099 (GRCm39)		probably benign	Het
Idh3b	C	T	2: 130,123,665 (GRCm39)	V141I	probably benign	Het
Kif24	A	G	4: 41,393,529 (GRCm39)	S1249P	probably benign	Het
Leo1	T	C	9: 75,373,542 (GRCm39)	Y656H	possibly damaging	Het
Map3k20	G	A	2: 72,240,521 (GRCm39)	W339*	probably null	Het
Map3k5	T	C	10: 20,012,657 (GRCm39)	V1259A	possibly damaging	Het
Masp2	A	G	4: 148,698,812 (GRCm39)	D631G	probably damaging	Het
Mink1	T	C	11: 70,499,706 (GRCm39)	S713P	probably benign	Het
Mpp7	A	T	18: 7,350,984 (GRCm39)	V571E	possibly damaging	Het
Nell1	A	G	7: 50,498,306 (GRCm39)	D574G	possibly damaging	Het
Obscn	T	C	11: 58,967,722 (GRCm39)	Y392C	probably damaging	Het
Odad2	A	G	18: 7,286,688 (GRCm39)	L181P	probably damaging	Het
Olfml2a	A	T	2: 38,850,231 (GRCm39)	Y649F	probably benign	Het
Or1f19	A	G	16: 3,411,073 (GRCm39)	D271G	probably benign	Het
Or4k45	T	C	2: 111,395,691 (GRCm39)	M33V	probably benign	Het
Prkcg	A	G	7: 3,371,986 (GRCm39)	D484G	probably damaging	Het
Rab27a	T	C	9: 72,982,851 (GRCm39)		probably null	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rgl1	C	T	1: 152,400,523 (GRCm39)	R624H	probably damaging	Het
Ric8b	G	A	10: 84,806,612 (GRCm39)	G159D	probably damaging	Het
Sbno2	C	A	10: 79,896,468 (GRCm39)	A880S	possibly damaging	Het
Scn9a	A	G	2: 66,318,361 (GRCm39)	S1477P	probably damaging	Het
Sec22a	T	C	16: 35,139,243 (GRCm39)		probably benign	Het
Snx14	T	C	9: 88,267,792 (GRCm39)	I714M	probably benign	Het
Snx14	T	C	9: 88,289,543 (GRCm39)		probably benign	Het
Sphk2	T	A	7: 45,360,964 (GRCm39)	T347S	probably benign	Het
Spns1	C	T	7: 125,970,343 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,044,390 (GRCm39)	D566V	probably damaging	Het
Tcf25	T	A	8: 124,123,830 (GRCm39)	I464N	possibly damaging	Het
Tex261	A	T	6: 83,752,004 (GRCm39)	I49N	possibly damaging	Het
Tjp1	A	G	7: 64,952,700 (GRCm39)	F1545L	possibly damaging	Het
Tmem176b	A	G	6: 48,811,500 (GRCm39)	S216P	probably damaging	Het
Topaz1	C	T	9: 122,609,740 (GRCm39)		probably benign	Het
Tra2a	C	T	6: 49,227,891 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,553,126 (GRCm39)	F22794S	possibly damaging	Het
Uox	G	A	3: 146,318,138 (GRCm39)	W93*	probably null	Het
Zan	A	T	5: 137,411,052 (GRCm39)		probably benign	Het
Zfp106	G	A	2: 120,364,158 (GRCm39)	R750*	probably null	Het
Zfp638	A	T	6: 83,956,894 (GRCm39)		probably null	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
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
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'- ATGCTGTCAGCCAAGTGTGCTC -3'
(R):5'- TGGAAAGTGGTCTATGCCTACCCC -3'

Sequencing Primer
(F):5'- GGTCCTACAACAGAGATAGGTTTAAC -3'
(R):5'- TATGCCTACCCCAGAGTGTCAG -3'

Posted On

2014-04-24