Mutagenetix > Incidental Mutation

Incidental Mutation 'R5960:Susd2'

471418

Institutional Source

Beutler Lab

Gene Symbol

Susd2

Ensembl Gene

ENSMUSG00000006342

Gene Name

sushi domain containing 2

Synonyms

1200011D11Rik

MMRRC Submission

044147-MU

Accession Numbers

Essential gene?

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

Stock #

R5960 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

75472540-75479842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75475770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 410 (V410I)

Ref Sequence

ENSEMBL: ENSMUSP00000093197 (fasta)

Gene Model

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

AlphaFold

Q9DBX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000077610
AA Change: V290I

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

SMART Domains

Protein: ENSMUSP00000076802
Gene: ENSMUSG00000006342
AA Change: V290I

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: V410I

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

SMART Domains

Protein: ENSMUSP00000093197
Gene: ENSMUSG00000006342
AA Change: V410I

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

0.2129

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.9%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,528 (GRCm39)	T30A	possibly damaging	Het
Adat1	T	C	8: 112,709,233 (GRCm39)	M197V	probably benign	Het
Alcam	T	C	16: 52,115,489 (GRCm39)	T210A	probably benign	Het
Ankfy1	T	A	11: 72,648,178 (GRCm39)	S886R	possibly damaging	Het
Aopep	G	A	13: 63,388,087 (GRCm39)	R22Q	probably damaging	Het
Atg2a	T	G	19: 6,304,390 (GRCm39)	F1136V	probably damaging	Het
Birc6	A	T	17: 74,835,760 (GRCm39)	T72S	probably damaging	Het
Caskin1	A	G	17: 24,717,869 (GRCm39)	T219A	probably benign	Het
Catsperg1	A	G	7: 28,884,208 (GRCm39)		probably benign	Het
Cdh12	A	G	15: 21,492,562 (GRCm39)		probably null	Het
Cfap126	A	G	1: 170,952,882 (GRCm39)	D45G	probably damaging	Het
Ciz1	C	A	2: 32,261,228 (GRCm39)	Q356K	possibly damaging	Het
Ckmt1	T	A	2: 121,194,058 (GRCm39)	I407N	probably damaging	Het
Csmd1	C	T	8: 16,121,430 (GRCm39)	E1756K	possibly damaging	Het
Cwf19l2	A	G	9: 3,411,404 (GRCm39)	K94E	probably benign	Het
Cyth1	A	G	11: 118,023,193 (GRCm39)		probably benign	Het
Ddx25	A	G	9: 35,465,807 (GRCm39)		probably null	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock3	C	A	9: 106,788,554 (GRCm39)	G138*	probably null	Het
Fam20a	G	A	11: 109,566,795 (GRCm39)		probably benign	Het
Fanci	A	G	7: 79,093,510 (GRCm39)	T1006A	probably damaging	Het
Fat1	T	C	8: 45,486,405 (GRCm39)	Y3320H	probably damaging	Het
Fndc8	A	G	11: 82,788,398 (GRCm39)	D76G	probably benign	Het
Gm19965	T	C	1: 116,749,201 (GRCm39)	I294T	possibly damaging	Het
Gm9755	T	G	8: 67,967,840 (GRCm39)		noncoding transcript	Het
Iars1	T	C	13: 49,878,113 (GRCm39)	V879A	possibly damaging	Het
Ifi209	A	T	1: 173,466,382 (GRCm39)		probably null	Het
Itgb2l	T	C	16: 96,227,459 (GRCm39)	H528R	probably benign	Het
Marf1	T	C	16: 13,970,281 (GRCm39)	Q146R	probably damaging	Het
Megf11	A	G	9: 64,567,731 (GRCm39)	T407A	probably benign	Het
Mtg1	T	C	7: 139,726,906 (GRCm39)		probably benign	Het
Nhsl1	T	G	10: 18,402,724 (GRCm39)	S1317A	probably benign	Het
Nhsl3	A	G	4: 129,115,865 (GRCm39)	V933A	probably damaging	Het
Nudt16	A	T	9: 105,008,698 (GRCm39)	C63S	possibly damaging	Het
Nup107	T	C	10: 117,625,915 (GRCm39)	I49V	probably null	Het
Or51a24	G	T	7: 103,733,560 (GRCm39)	N242K	probably damaging	Het
Or5m13	T	A	2: 85,749,069 (GRCm39)	S267T	probably benign	Het
Orc1	T	C	4: 108,463,495 (GRCm39)	S671P	possibly damaging	Het
Paox	A	G	7: 139,712,402 (GRCm39)	D211G	probably benign	Het
Pck2	A	G	14: 55,786,004 (GRCm39)	T571A	possibly damaging	Het
Pigg	A	G	5: 108,484,160 (GRCm39)	E469G	probably benign	Het
Pikfyve	C	A	1: 65,292,597 (GRCm39)	Y1349*	probably null	Het
Prickle2	A	G	6: 92,353,286 (GRCm39)	F783L	probably benign	Het
Prpf40b	G	T	15: 99,212,785 (GRCm39)	R627L	probably damaging	Het
Rasgrf1	A	G	9: 89,903,437 (GRCm39)	I1217V	possibly damaging	Het
Rbm26	A	T	14: 105,387,751 (GRCm39)	V457D	probably damaging	Het
Rex1bd	C	A	8: 70,959,156 (GRCm39)	R49L	probably null	Het
Robo2	A	T	16: 73,730,603 (GRCm39)	L1003Q	probably damaging	Het
Sacs	A	G	14: 61,446,144 (GRCm39)	D2730G	probably benign	Het
Setd6	T	A	8: 96,442,827 (GRCm39)	L88H	probably damaging	Het
Smim35	T	C	9: 45,154,288 (GRCm39)	Y50H	probably damaging	Het
Sncb	A	G	13: 54,910,795 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,225 (GRCm39)	H985L	probably benign	Het
Spmap2	T	G	10: 79,421,765 (GRCm39)	K151T	possibly damaging	Het
Stard9	A	G	2: 120,530,442 (GRCm39)	E2233G	probably benign	Het
Synm	A	G	7: 67,385,494 (GRCm39)	S281P	probably damaging	Het
Syvn1	C	T	19: 6,100,598 (GRCm39)	R330C	probably damaging	Het
Tiam2	A	T	17: 3,488,915 (GRCm39)	D741V	probably benign	Het
Tph1	A	G	7: 46,311,429 (GRCm39)		probably null	Het
Trav7-5	T	A	14: 53,768,706 (GRCm39)	H91Q	probably benign	Het
Tymp	A	T	15: 89,260,778 (GRCm39)		probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	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
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'- GAAGCTGGTGCCATCAAAGG -3'
(R):5'- ACATTGAACATGGCAGCGTATG -3'

Sequencing Primer
(F):5'- GCAGAAGATCAGGTAGATTTCTTTG -3'
(R):5'- TGTGCAAGCCAGGTGAGCTAC -3'

Posted On

2017-03-31