Mutagenetix > Incidental Mutation

Incidental Mutation 'R1144:Sned1'

102229

Institutional Source

Beutler Lab

Gene Symbol

Sned1

Ensembl Gene

ENSMUSG00000047793

Gene Name

sushi, nidogen and EGF-like domains 1

Synonyms

D430044C15Rik, 6720455I24Rik, Snep

MMRRC Submission

039217-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1144 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93163563-93228787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 93208298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 785 (G785R)

Ref Sequence

ENSEMBL: ENSMUSP00000050832 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000062202
AA Change: G785R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: G785R

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

probably benign
Transcript: ENSMUST00000163688

SMART Domains

Protein: ENSMUSP00000132455
Gene: ENSMUSG00000047793

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

0.9229

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,083 (GRCm39)		probably benign	Het
Abcc5	A	T	16: 20,241,188 (GRCm39)		probably benign	Het
Acsl5	A	C	19: 55,280,275 (GRCm39)	D516A	probably damaging	Het
Adcy1	G	A	11: 7,087,400 (GRCm39)	A425T	probably damaging	Het
Aebp1	A	G	11: 5,818,475 (GRCm39)	T107A	probably benign	Het
Arhgef33	T	C	17: 80,662,473 (GRCm39)	S219P	probably benign	Het
Atm	T	G	9: 53,422,998 (GRCm39)		probably benign	Het
C1ql2	A	C	1: 120,270,266 (GRCm39)	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,527,595 (GRCm39)		probably null	Het
Cmbl	A	G	15: 31,582,020 (GRCm39)	N6D	probably benign	Het
Cntn3	A	G	6: 102,219,087 (GRCm39)	V511A	possibly damaging	Het
Coq9	C	A	8: 95,569,251 (GRCm39)	R28S	probably benign	Het
Creld1	T	C	6: 113,460,922 (GRCm39)	F20S	probably benign	Het
Dcstamp	A	G	15: 39,623,764 (GRCm39)	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,052,131 (GRCm39)	I244K	probably benign	Het
Dnhd1	G	A	7: 105,362,238 (GRCm39)	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 77,887,739 (GRCm39)	C110S	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr1	T	G	8: 26,048,159 (GRCm39)	V172G	probably damaging	Het
Frem3	C	A	8: 81,338,513 (GRCm39)	Q269K	probably benign	Het
Frmd6	C	A	12: 70,923,942 (GRCm39)	H67N	probably damaging	Het
Fry	A	G	5: 150,341,929 (GRCm39)	T1532A	possibly damaging	Het
Git2	G	T	5: 114,891,375 (GRCm39)	S243R	probably benign	Het
Grid1	A	G	14: 35,284,633 (GRCm39)		probably benign	Het
Grp	A	G	18: 66,013,041 (GRCm39)	D69G	probably damaging	Het
Hmbox1	A	T	14: 65,063,132 (GRCm39)	L347Q	probably damaging	Het
Hsh2d	C	T	8: 72,947,436 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,333,897 (GRCm39)	S2018N	probably benign	Het
Kif13b	T	A	14: 64,951,566 (GRCm39)	V69D	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lmcd1	T	A	6: 112,287,712 (GRCm39)		probably benign	Het
Megf9	C	A	4: 70,452,861 (GRCm39)	A67S	probably benign	Het
Myo5b	G	A	18: 74,758,658 (GRCm39)	R213H	probably damaging	Het
Myo5c	T	A	9: 75,193,730 (GRCm39)	Y1162N	probably damaging	Het
Nphs1	A	G	7: 30,181,103 (GRCm39)		probably benign	Het
Ntrk1	G	A	3: 87,688,849 (GRCm39)	T568I	probably damaging	Het
Pcmtd1	A	G	1: 7,190,705 (GRCm39)	H58R	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Plxna4	A	T	6: 32,174,091 (GRCm39)	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,777,183 (GRCm39)	D483G	probably benign	Het
Prdm15	G	A	16: 97,609,908 (GRCm39)	R579C	probably damaging	Het
Prickle1	T	A	15: 93,410,342 (GRCm39)	R41W	probably damaging	Het
Rbm19	A	G	5: 120,261,081 (GRCm39)	D235G	possibly damaging	Het
Smco2	A	G	6: 146,772,638 (GRCm39)		probably benign	Het
Stat4	A	G	1: 52,123,288 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,013,298 (GRCm39)	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,963,200 (GRCm39)	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,026 (GRCm39)		probably benign	Het
Tmem63b	T	A	17: 45,977,353 (GRCm39)	K383N	probably benign	Het
Trp53rka	C	A	2: 165,334,961 (GRCm39)		probably benign	Het
Trub1	G	A	19: 57,473,563 (GRCm39)	V207M	probably benign	Het
Ulk2	A	T	11: 61,690,886 (GRCm39)	C551S	possibly damaging	Het
Urb1	A	T	16: 90,573,206 (GRCm39)		probably null	Het
Vmn1r219	C	A	13: 23,347,383 (GRCm39)	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 63,997,541 (GRCm39)	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,312,098 (GRCm39)		probably benign	Het
Wars1	A	T	12: 108,854,291 (GRCm39)	L41*	probably null	Het
Washc2	G	A	6: 116,201,495 (GRCm39)	E64K	probably damaging	Het
Washc4	G	A	10: 83,416,194 (GRCm39)	R828Q	probably damaging	Het
Wdr59	A	T	8: 112,213,576 (GRCm39)	M313K	probably benign	Het
Wscd2	G	A	5: 113,699,151 (GRCm39)		probably null	Het
Zdhhc20	A	C	14: 58,094,135 (GRCm39)	L176V	probably benign	Het

Other mutations in Sned1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Sned1	APN	1	93,201,891 (GRCm39)	splice site	probably benign
IGL00955:Sned1	APN	1	93,202,125 (GRCm39)	missense	probably damaging	1.00
IGL01367:Sned1	APN	1	93,210,936 (GRCm39)	missense	probably benign	0.32
IGL02116:Sned1	APN	1	93,209,447 (GRCm39)	nonsense	probably null
IGL02195:Sned1	APN	1	93,201,882 (GRCm39)	missense	probably benign	0.03
IGL02390:Sned1	APN	1	93,189,386 (GRCm39)	missense	probably benign
IGL02423:Sned1	APN	1	93,211,322 (GRCm39)	missense	probably benign
IGL02451:Sned1	APN	1	93,163,930 (GRCm39)	splice site	probably benign
IGL02567:Sned1	APN	1	93,202,069 (GRCm39)	missense	probably damaging	0.96
IGL03184:Sned1	APN	1	93,202,390 (GRCm39)	missense	probably benign	0.01
IGL03328:Sned1	APN	1	93,217,089 (GRCm39)	missense	probably benign
Bulger	UTSW	1	93,199,385 (GRCm39)	nonsense	probably null
farina	UTSW	1	93,209,374 (GRCm39)	missense	probably damaging	1.00
Millet	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
triticale	UTSW	1	93,281,654 (GRCm39)	missense
R0257:Sned1	UTSW	1	93,192,819 (GRCm39)	missense	possibly damaging	0.75
R0372:Sned1	UTSW	1	93,213,673 (GRCm39)	splice site	probably benign
R0525:Sned1	UTSW	1	93,199,696 (GRCm39)	splice site	probably null
R0727:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R0759:Sned1	UTSW	1	93,200,286 (GRCm39)	missense	probably damaging	1.00
R0965:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R0968:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R0969:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1006:Sned1	UTSW	1	93,184,114 (GRCm39)	missense	probably damaging	1.00
R1068:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1069:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1070:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1112:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1113:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1114:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1115:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1118:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1119:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1228:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1230:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1231:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1313:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1313:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1340:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1382:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1383:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1394:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1395:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1397:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1414:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1430:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1432:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1473:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1503:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1563:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1565:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1689:Sned1	UTSW	1	93,211,094 (GRCm39)	missense	probably damaging	0.99
R1695:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1734:Sned1	UTSW	1	93,187,490 (GRCm39)	missense	probably damaging	1.00
R1764:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1767:Sned1	UTSW	1	93,209,376 (GRCm39)	missense	possibly damaging	0.89
R1896:Sned1	UTSW	1	93,192,769 (GRCm39)	missense	probably benign	0.16
R1916:Sned1	UTSW	1	93,201,884 (GRCm39)	missense	probably null	1.00
R1945:Sned1	UTSW	1	93,198,960 (GRCm39)	missense	probably benign	0.01
R1972:Sned1	UTSW	1	93,192,795 (GRCm39)	missense	probably damaging	1.00
R1973:Sned1	UTSW	1	93,192,795 (GRCm39)	missense	probably damaging	1.00
R2143:Sned1	UTSW	1	93,199,406 (GRCm39)	missense	probably damaging	1.00
R2144:Sned1	UTSW	1	93,199,406 (GRCm39)	missense	probably damaging	1.00
R2145:Sned1	UTSW	1	93,199,406 (GRCm39)	missense	probably damaging	1.00
R2153:Sned1	UTSW	1	93,202,379 (GRCm39)	missense	probably benign	0.01
R2273:Sned1	UTSW	1	93,209,364 (GRCm39)	splice site	probably null
R2274:Sned1	UTSW	1	93,209,364 (GRCm39)	splice site	probably null
R2275:Sned1	UTSW	1	93,209,364 (GRCm39)	splice site	probably null
R2340:Sned1	UTSW	1	93,184,174 (GRCm39)	missense	probably damaging	0.98
R3237:Sned1	UTSW	1	93,186,725 (GRCm39)	missense	probably benign	0.21
R3747:Sned1	UTSW	1	93,189,473 (GRCm39)	missense	probably damaging	1.00
R3879:Sned1	UTSW	1	93,192,752 (GRCm39)	splice site	probably benign
R4281:Sned1	UTSW	1	93,213,577 (GRCm39)	nonsense	probably null
R4282:Sned1	UTSW	1	93,213,577 (GRCm39)	nonsense	probably null
R4356:Sned1	UTSW	1	93,193,113 (GRCm39)	splice site	probably null
R4358:Sned1	UTSW	1	93,202,381 (GRCm39)	missense	probably benign	0.01
R4677:Sned1	UTSW	1	93,224,019 (GRCm39)	unclassified	probably benign
R5291:Sned1	UTSW	1	93,223,446 (GRCm39)	missense	possibly damaging	0.80
R5340:Sned1	UTSW	1	93,210,479 (GRCm39)	missense	probably benign	0.09
R5542:Sned1	UTSW	1	93,199,324 (GRCm39)	missense	probably benign
R5582:Sned1	UTSW	1	93,210,083 (GRCm39)	missense	probably damaging	1.00
R5874:Sned1	UTSW	1	93,193,067 (GRCm39)	missense	probably damaging	1.00
R6159:Sned1	UTSW	1	93,210,659 (GRCm39)	missense	probably benign	0.00
R6175:Sned1	UTSW	1	93,203,196 (GRCm39)	splice site	probably null
R6445:Sned1	UTSW	1	93,211,318 (GRCm39)	missense	possibly damaging	0.89
R6631:Sned1	UTSW	1	93,209,374 (GRCm39)	missense	probably damaging	1.00
R7018:Sned1	UTSW	1	93,212,143 (GRCm39)	missense	probably damaging	1.00
R7035:Sned1	UTSW	1	93,189,852 (GRCm39)	missense	probably damaging	1.00
R7047:Sned1	UTSW	1	93,213,540 (GRCm39)	missense	possibly damaging	0.51
R7347:Sned1	UTSW	1	93,209,458 (GRCm39)	missense	probably damaging	1.00
R7427:Sned1	UTSW	1	93,217,080 (GRCm39)	missense	probably benign	0.11
R7581:Sned1	UTSW	1	93,184,267 (GRCm39)	missense	probably benign	0.00
R7679:Sned1	UTSW	1	93,163,760 (GRCm39)	missense	unknown
R7899:Sned1	UTSW	1	93,201,804 (GRCm39)	missense	probably benign	0.04
R8093:Sned1	UTSW	1	93,202,387 (GRCm39)	missense	possibly damaging	0.82
R8124:Sned1	UTSW	1	93,210,711 (GRCm39)	critical splice donor site	probably null
R8489:Sned1	UTSW	1	93,210,978 (GRCm39)	nonsense	probably null
R9012:Sned1	UTSW	1	93,212,320 (GRCm39)	missense	probably damaging	0.99
R9290:Sned1	UTSW	1	93,199,385 (GRCm39)	nonsense	probably null
R9560:Sned1	UTSW	1	93,202,110 (GRCm39)	missense	probably damaging	1.00
R9775:Sned1	UTSW	1	93,199,604 (GRCm39)	missense	probably damaging	0.99
X0025:Sned1	UTSW	1	93,189,409 (GRCm39)	missense	probably damaging	1.00
Z1176:Sned1	UTSW	1	93,186,764 (GRCm39)	missense	probably damaging	1.00
Z1177:Sned1	UTSW	1	93,213,542 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

Posted On

2014-01-15