Mutagenetix > Incidental Mutation

Incidental Mutation 'R3965:Susd5'

312312

Institutional Source

Beutler Lab

Gene Symbol

Susd5

Ensembl Gene

ENSMUSG00000086596

Gene Name

sushi domain containing 5

Synonyms

LOC382111

MMRRC Submission

040934-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R3965 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113886422-113927801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113925260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 381 (E381G)

Ref Sequence

ENSEMBL: ENSMUSP00000128826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000135338]

AlphaFold

G3UW60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135338
AA Change: E381G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128826
Gene: ENSMUSG00000086596
AA Change: E381G

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LINK	33	130	7.42e-26	SMART
CCP	136	193	9.65e-1	SMART
low complexity region	416	428	N/A	INTRINSIC
low complexity region	485	496	N/A	INTRINSIC
transmembrane domain	566	588	N/A	INTRINSIC

Meta Mutation Damage Score

0.0756

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C1galt1c1	A	T	X: 37,720,453 (GRCm39)	V181E	probably benign	Het
Ccdc121	T	A	5: 31,645,335 (GRCm39)	C363S	probably benign	Het
Cep70	T	A	9: 99,180,587 (GRCm39)	F581I	probably damaging	Het
Cfap74	T	A	4: 155,531,174 (GRCm39)	M809K	probably damaging	Het
Clic6	T	C	16: 92,295,732 (GRCm39)	S131P	probably benign	Het
Ctc1	T	A	11: 68,921,954 (GRCm39)	V800D	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlec1	A	G	9: 118,957,649 (GRCm39)	I878V	probably benign	Het
Elapor1	T	C	3: 108,365,765 (GRCm39)	D998G	probably damaging	Het
Esyt3	T	A	9: 99,202,375 (GRCm39)	D512V	probably damaging	Het
Ewsr1	T	C	11: 5,033,476 (GRCm39)	Y232C	unknown	Het
Exoc2	G	A	13: 31,061,565 (GRCm39)	S492L	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Grin2c	G	A	11: 115,151,820 (GRCm39)	R47W	probably damaging	Het
Igfn1	T	C	1: 135,895,557 (GRCm39)	T1670A	probably benign	Het
Med31	C	T	11: 72,102,755 (GRCm39)	A118T	probably benign	Het
Mia2	T	A	12: 59,223,158 (GRCm39)	S489T	probably damaging	Het
Mov10l1	A	G	15: 88,896,366 (GRCm39)	I737V	probably benign	Het
Muc2	G	A	7: 141,286,233 (GRCm39)	R120H	probably benign	Het
Nckap1l	T	A	15: 103,373,016 (GRCm39)	C276*	probably null	Het
Nrap	T	C	19: 56,330,576 (GRCm39)	S1126G	probably damaging	Het
Oas1c	A	G	5: 120,946,783 (GRCm39)	F16L	probably damaging	Het
Or10g9	A	T	9: 39,911,767 (GRCm39)	V252E	possibly damaging	Het
Or1ab2	G	A	8: 72,864,108 (GRCm39)	G233R	probably damaging	Het
Or5b123	T	C	19: 13,596,565 (GRCm39)	L13P	probably damaging	Het
Or8b51	G	A	9: 38,569,023 (GRCm39)	L222F	probably benign	Het
Pik3c2g	A	G	6: 139,801,018 (GRCm39)	M388V	possibly damaging	Het
Pls1	T	C	9: 95,667,665 (GRCm39)	Q81R	probably benign	Het
Pole	A	G	5: 110,460,648 (GRCm39)	K1143E	probably damaging	Het
Ppp6r2	A	G	15: 89,143,317 (GRCm39)	K155E	probably benign	Het
Rxra	T	A	2: 27,642,318 (GRCm39)		probably benign	Het
Svs5	T	C	2: 164,079,662 (GRCm39)	T82A	possibly damaging	Het
Syt14	A	T	1: 192,584,175 (GRCm39)	H413Q	probably benign	Het
Tg	T	A	15: 66,556,039 (GRCm39)	D910E	probably benign	Het
Timd5	T	A	11: 46,426,340 (GRCm39)	V149D	possibly damaging	Het
Tpcn1	G	T	5: 120,694,640 (GRCm39)	T143K	probably damaging	Het
Trbv5	G	T	6: 41,039,342 (GRCm39)		probably benign	Het
Trhr	T	A	15: 44,061,095 (GRCm39)	I205N	possibly damaging	Het
Trp73	A	G	4: 154,146,493 (GRCm39)	V422A	probably benign	Het
Trpc6	G	A	9: 8,626,622 (GRCm39)	C324Y	probably damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Zfhx4	G	T	3: 5,468,907 (GRCm39)	V3022F	probably damaging	Het
Zswim8	G	A	14: 20,763,141 (GRCm39)	V347I	probably benign	Het

Other mutations in Susd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01514:Susd5	APN	9	113,897,947 (GRCm39)	splice site	probably benign
IGL01720:Susd5	APN	9	113,893,052 (GRCm39)	missense	possibly damaging	0.85
IGL02739:Susd5	APN	9	113,925,101 (GRCm39)	missense	possibly damaging	0.72
H8441:Susd5	UTSW	9	113,925,253 (GRCm39)	nonsense	probably null
R0238:Susd5	UTSW	9	113,925,977 (GRCm39)	makesense	probably null
R0238:Susd5	UTSW	9	113,925,977 (GRCm39)	makesense	probably null
R0650:Susd5	UTSW	9	113,911,603 (GRCm39)	missense	possibly damaging	0.53
R0666:Susd5	UTSW	9	113,924,852 (GRCm39)	missense	possibly damaging	0.53
R1478:Susd5	UTSW	9	113,925,752 (GRCm39)	missense	probably benign
R1672:Susd5	UTSW	9	113,897,890 (GRCm39)	missense	probably damaging	0.99
R3416:Susd5	UTSW	9	113,924,726 (GRCm39)	missense	possibly damaging	0.85
R4182:Susd5	UTSW	9	113,925,053 (GRCm39)	missense	probably benign	0.12
R4514:Susd5	UTSW	9	113,924,992 (GRCm39)	missense	probably benign	0.18
R5373:Susd5	UTSW	9	113,911,653 (GRCm39)	missense	probably damaging	1.00
R5947:Susd5	UTSW	9	113,886,659 (GRCm39)	missense	possibly damaging	0.96
R6189:Susd5	UTSW	9	113,924,726 (GRCm39)	missense	probably damaging	0.98
R6349:Susd5	UTSW	9	113,924,870 (GRCm39)	missense	probably benign	0.33
R7535:Susd5	UTSW	9	113,893,108 (GRCm39)	missense	possibly damaging	0.92
R8973:Susd5	UTSW	9	113,911,572 (GRCm39)	missense	possibly damaging	0.86
R9143:Susd5	UTSW	9	113,924,879 (GRCm39)	missense	possibly damaging	0.86
R9145:Susd5	UTSW	9	113,925,289 (GRCm39)	missense	probably damaging	1.00
Z1176:Susd5	UTSW	9	113,925,208 (GRCm39)	missense	probably damaging	0.98
Z1177:Susd5	UTSW	9	113,893,135 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTCCTGCCAGAGACAATCAC -3'
(R):5'- TCAGTCTCAGACACATTGATGGG -3'

Sequencing Primer
(F):5'- CTGCCAGAGACAATCACAGTGAAG -3'
(R):5'- ACACATTGATGGGTCCTGGAACC -3'

Posted On

2015-04-29