Mutagenetix > Incidental Mutations

Incidental Mutation 'R1119:Sned1'

97665

Institutional Source

Beutler Lab

Gene Symbol

Sned1

Ensembl Gene

ENSMUSG00000047793

Gene Name

sushi, nidogen and EGF-like domains 1

Synonyms

6720455I24Rik, D430044C15Rik, Snep

MMRRC Submission

039192-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93235841-93301065 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93281654 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 830 (V830M)

Ref Sequence

ENSEMBL: ENSMUSP00000050832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062202]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062202
AA Change: V830M

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: V830M

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
NIDO	103	260	2.98e-54	SMART
EGF	271	309	3.79e-6	SMART
EGF_CA	311	347	2.42e-13	SMART
EGF	352	385	1.02e-6	SMART
EGF_CA	387	423	1.91e-11	SMART
EGF	432	465	2.96e-8	SMART
EGF	471	500	6.02e0	SMART
EGF	544	577	3.54e-6	SMART
EGF	583	616	6.06e-5	SMART
EGF_CA	619	655	2.33e-6	SMART
EGF	660	693	1.77e-6	SMART
CCP	698	751	2.5e-11	SMART
EGF_CA	753	789	1.66e-11	SMART
EGF_CA	791	827	1.38e-8	SMART
EGF_CA	829	865	1.92e-7	SMART
EGF	870	903	2.35e-2	SMART
FN3	906	991	1.7e-4	SMART
FN3	1005	1084	1.38e-4	SMART
FN3	1104	1185	1.6e-9	SMART
EGF	1309	1342	6.16e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000163688
AA Change: V39M

SMART Domains

Protein: ENSMUSP00000132455
Gene: ENSMUSG00000047793
AA Change: V39M

Domain	Start	End	E-Value	Type
EGF_CA	1	37	6.7e-7	SMART
EGF_CA	39	75	1.92e-7	SMART
EGF	80	113	2.35e-2	SMART
FN3	116	201	1.7e-4	SMART
FN3	215	294	1.38e-4	SMART
FN3	314	395	1.6e-9	SMART
EGF	487	520	6.16e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172289

Meta Mutation Damage Score

0.1152

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	G	3: 36,987,045	V2524G	probably damaging	Het
Adamtsl3	A	C	7: 82,540,317	E583A	probably damaging	Het
Aoah	T	A	13: 20,914,938		probably benign	Het
Atf7ip2	A	G	16: 10,240,612	K305R	possibly damaging	Het
Ccdc129	T	C	6: 55,889,170	F183L	probably damaging	Het
Cd200r2	A	G	16: 44,909,606	N171S	probably damaging	Het
Cfap57	G	A	4: 118,606,676	Q327*	probably null	Het
Ckap2l	A	T	2: 129,272,572		probably benign	Het
Cul2	A	G	18: 3,419,335		probably benign	Het
Ddx60	G	A	8: 61,942,544	V172M	probably damaging	Het
Drp2	T	C	X: 134,441,322	L545P	probably damaging	Het
Ezh1	A	G	11: 101,210,535		probably benign	Het
Gipc2	A	G	3: 152,094,196	F299S	probably damaging	Het
Gsk3b	T	C	16: 38,207,984		probably benign	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hikeshi	A	G	7: 89,935,730	S89P	probably benign	Het
Hmcn1	C	T	1: 150,618,928	A4137T	possibly damaging	Het
Larp1b	C	A	3: 41,033,528	R62S	possibly damaging	Het
Lgr5	A	T	10: 115,460,811		probably null	Het
Lpin1	C	A	12: 16,563,721	D449Y	probably damaging	Het
Macrod2	A	T	2: 140,400,906	I31L	probably benign	Het
Meig1	T	C	2: 3,409,274	D63G	probably damaging	Het
Ndufa9	A	T	6: 126,822,068	L362Q	probably damaging	Het
Nlrp9c	A	T	7: 26,384,437	D572E	probably benign	Het
Nxpe5	G	A	5: 138,239,396	D61N	probably benign	Het
Ogdh	T	A	11: 6,340,544	H376Q	probably damaging	Het
P4ha3	T	C	7: 100,313,328	I431T	probably damaging	Het
Pcdhb14	G	A	18: 37,448,587	V249M	probably damaging	Het
Pcnp	A	G	16: 56,024,391	S49P	probably damaging	Het
Pik3r6	C	T	11: 68,545,872	T654I	probably benign	Het
Rptn	A	G	3: 93,396,245	Y295C	possibly damaging	Het
Sec16b	A	G	1: 157,564,834	D924G	possibly damaging	Het
Setd1b	C	A	5: 123,147,716	T275K	unknown	Het
Sgcb	T	A	5: 73,644,414	K36I	probably damaging	Het
Smg7	A	T	1: 152,866,575		probably benign	Het
Stab2	T	C	10: 86,859,755	D599G	possibly damaging	Het
Stk36	A	G	1: 74,632,766	E875G	probably benign	Het
Tagln3	C	A	16: 45,724,272	R12L	probably damaging	Het
Tax1bp1	C	A	6: 52,741,948		probably benign	Het
Thnsl1	A	G	2: 21,213,046	N16S	probably damaging	Het
Ticrr	C	T	7: 79,693,953	P1189S	probably benign	Het
Tnxb	G	A	17: 34,685,043	V1053M	probably damaging	Het
Tpp2	T	C	1: 43,992,396		probably null	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Vmn2r60	A	T	7: 42,194,941	Q576L	possibly damaging	Het
Zfp62	G	T	11: 49,216,690	R536L	probably damaging	Het
Zfp958	A	T	8: 4,626,169	N46Y	possibly damaging	Het

Other mutations in Sned1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Sned1	APN	1	93274169	splice site	probably benign
IGL00955:Sned1	APN	1	93274403	missense	probably damaging	1.00
IGL01367:Sned1	APN	1	93283214	missense	probably benign	0.32
IGL02116:Sned1	APN	1	93281725	nonsense	probably null
IGL02195:Sned1	APN	1	93274160	missense	probably benign	0.03
IGL02390:Sned1	APN	1	93261664	missense	probably benign
IGL02423:Sned1	APN	1	93283600	missense	probably benign
IGL02451:Sned1	APN	1	93236208	splice site	probably benign
IGL02567:Sned1	APN	1	93274347	missense	probably damaging	0.96
IGL03184:Sned1	APN	1	93274668	missense	probably benign	0.01
IGL03328:Sned1	APN	1	93289367	missense	probably benign
R0257:Sned1	UTSW	1	93265097	missense	possibly damaging	0.75
R0372:Sned1	UTSW	1	93285951	splice site	probably benign
R0525:Sned1	UTSW	1	93271974	splice site	probably null
R0727:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R0759:Sned1	UTSW	1	93272564	missense	probably damaging	1.00
R0965:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R0968:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R0969:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1006:Sned1	UTSW	1	93256392	missense	probably damaging	1.00
R1068:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1069:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1070:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1112:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1113:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1114:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1115:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1118:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1144:Sned1	UTSW	1	93280576	missense	probably damaging	0.98
R1228:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1230:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1231:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1313:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1313:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1340:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1382:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1383:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1394:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1395:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1397:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1414:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1430:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1432:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1473:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1503:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1563:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1565:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1689:Sned1	UTSW	1	93283372	missense	probably damaging	0.99
R1695:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1734:Sned1	UTSW	1	93259768	missense	probably damaging	1.00
R1764:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1767:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1896:Sned1	UTSW	1	93265047	missense	probably benign	0.16
R1916:Sned1	UTSW	1	93274162	missense	probably null	1.00
R1945:Sned1	UTSW	1	93271238	missense	probably benign	0.01
R1972:Sned1	UTSW	1	93265073	missense	probably damaging	1.00
R1973:Sned1	UTSW	1	93265073	missense	probably damaging	1.00
R2143:Sned1	UTSW	1	93271684	missense	probably damaging	1.00
R2144:Sned1	UTSW	1	93271684	missense	probably damaging	1.00
R2145:Sned1	UTSW	1	93271684	missense	probably damaging	1.00
R2153:Sned1	UTSW	1	93274657	missense	probably benign	0.01
R2273:Sned1	UTSW	1	93281642	splice site	probably null
R2274:Sned1	UTSW	1	93281642	splice site	probably null
R2275:Sned1	UTSW	1	93281642	splice site	probably null
R2340:Sned1	UTSW	1	93256452	missense	probably damaging	0.98
R3237:Sned1	UTSW	1	93259003	missense	probably benign	0.21
R3747:Sned1	UTSW	1	93261751	missense	probably damaging	1.00
R3879:Sned1	UTSW	1	93265030	splice site	probably benign
R4281:Sned1	UTSW	1	93285855	nonsense	probably null
R4282:Sned1	UTSW	1	93285855	nonsense	probably null
R4356:Sned1	UTSW	1	93265391	splice site	probably null
R4358:Sned1	UTSW	1	93274659	missense	probably benign	0.01
R4677:Sned1	UTSW	1	93296297	unclassified	probably benign
R5291:Sned1	UTSW	1	93295724	missense	possibly damaging	0.80
R5340:Sned1	UTSW	1	93282757	missense	probably benign	0.09
R5542:Sned1	UTSW	1	93271602	missense	probably benign
R5582:Sned1	UTSW	1	93282361	missense	probably damaging	1.00
R5874:Sned1	UTSW	1	93265345	missense	probably damaging	1.00
R6159:Sned1	UTSW	1	93282937	missense	probably benign	0.00
R6175:Sned1	UTSW	1	93275474	splice site	probably null
R6445:Sned1	UTSW	1	93283596	missense	possibly damaging	0.89
R6631:Sned1	UTSW	1	93281652	missense	probably damaging	1.00
R7018:Sned1	UTSW	1	93284421	missense	probably damaging	1.00
R7035:Sned1	UTSW	1	93262130	missense	probably damaging	1.00
R7047:Sned1	UTSW	1	93285818	missense	possibly damaging	0.51
R7347:Sned1	UTSW	1	93281736	missense	probably damaging	1.00
R7427:Sned1	UTSW	1	93289358	missense	probably benign	0.11
R7581:Sned1	UTSW	1	93256545	missense	probably benign	0.00
R7679:Sned1	UTSW	1	93236038	missense	unknown
X0025:Sned1	UTSW	1	93261687	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACTCCCAAGGCTGTGGTGAC -3'
(R):5'- TCCTGAAAAGCCTGACCAAGTGTG -3'

Sequencing Primer
(F):5'- GCTGTGGTGACCCGGAG -3'
(R):5'- GCCTATCCAGGGACAACAGAG -3'

Posted On

2014-01-05