Mutagenetix > Incidental Mutation

Incidental Mutation 'R5874:Sned1'

455357

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

044081-MU

Accession Numbers

Essential gene?

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

Stock #

R5874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93163563-93228787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93193067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 409 (Y409C)

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: Y409C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: Y409C

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

noncoding transcript
Transcript: ENSMUST00000172289

Meta Mutation Damage Score

0.9451

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	A	7: 29,280,610 (GRCm39)		noncoding transcript	Het
Adam17	T	C	12: 21,379,087 (GRCm39)	D654G	possibly damaging	Het
Ankhd1	A	T	18: 36,773,322 (GRCm39)	H1373L	possibly damaging	Het
Ankrd17	T	C	5: 90,416,656 (GRCm39)		probably benign	Het
Calu	A	G	6: 29,372,617 (GRCm39)	D112G	probably damaging	Het
Camk2a	G	C	18: 61,076,272 (GRCm39)		probably benign	Het
Cpn1	C	A	19: 43,944,951 (GRCm39)	R452L	probably benign	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cuedc2	C	T	19: 46,319,824 (GRCm39)	V164M	possibly damaging	Het
Cyp2d34	T	A	15: 82,503,243 (GRCm39)	D74V	probably benign	Het
Ddi2	A	G	4: 141,422,780 (GRCm39)	S311P	probably damaging	Het
Ddx10	A	C	9: 53,140,498 (GRCm39)	I301R	possibly damaging	Het
Dmpk	T	C	7: 18,826,007 (GRCm39)		probably benign	Het
Dnah7b	C	T	1: 46,230,885 (GRCm39)	T1381I	probably damaging	Het
Dst	T	A	1: 34,218,670 (GRCm39)	N1703K	probably damaging	Het
Dtwd1	T	A	2: 126,000,359 (GRCm39)	H98Q	probably damaging	Het
Ecel1	A	C	1: 87,075,731 (GRCm39)	V769G	probably benign	Het
Eno4	T	C	19: 58,935,238 (GRCm39)	V150A	probably benign	Het
Evc2	C	T	5: 37,574,883 (GRCm39)		probably benign	Het
Ext1	T	A	15: 52,965,148 (GRCm39)	Q406L	possibly damaging	Het
Foxf2	A	G	13: 31,810,775 (GRCm39)	H238R	probably benign	Het
Frem2	C	G	3: 53,444,910 (GRCm39)	G2407A	probably benign	Het
Fzd10	A	G	5: 128,678,364 (GRCm39)	E28G	probably benign	Het
Galnt15	T	C	14: 31,774,324 (GRCm39)	F363L	probably damaging	Het
Gm1758	C	T	16: 14,325,037 (GRCm39)		noncoding transcript	Het
Gm5866	C	T	5: 52,739,956 (GRCm39)		noncoding transcript	Het
Heatr9	T	A	11: 83,405,426 (GRCm39)	M345L	probably benign	Het
Il23r	A	T	6: 67,408,629 (GRCm39)	F404Y	possibly damaging	Het
Lrrc8a	T	C	2: 30,147,148 (GRCm39)	I654T	probably damaging	Het
Napg	A	T	18: 63,111,091 (GRCm39)	K18*	probably null	Het
Ndst3	A	T	3: 123,355,556 (GRCm39)	W573R	probably damaging	Het
Nin	T	C	12: 70,077,692 (GRCm39)	S1038G	possibly damaging	Het
Nudt12	T	A	17: 59,317,279 (GRCm39)	R123*	probably null	Het
Oas1g	T	A	5: 121,015,081 (GRCm39)	N361Y	probably benign	Het
Or5p51	T	A	7: 107,444,377 (GRCm39)	I188L	probably benign	Het
Or7a35	T	A	10: 78,853,191 (GRCm39)	F12I	possibly damaging	Het
Or8h10	A	T	2: 86,808,786 (GRCm39)	M118K	probably damaging	Het
Osbpl10	T	C	9: 115,055,828 (GRCm39)	F667L	probably damaging	Het
Phldb2	T	C	16: 45,621,988 (GRCm39)	D664G	probably damaging	Het
Piezo2	C	T	18: 63,160,972 (GRCm39)	V2263M	probably damaging	Het
Pkd1l1	A	G	11: 8,858,688 (GRCm39)	L615P	probably damaging	Het
Pnpla7	G	A	2: 24,901,661 (GRCm39)	M562I	probably benign	Het
Pou2af2	A	T	9: 51,201,672 (GRCm39)	L128*	probably null	Het
Ppp1r13b	C	A	12: 111,811,423 (GRCm39)	R155L	probably damaging	Het
Pygb	C	T	2: 150,628,798 (GRCm39)	P4L	probably benign	Het
Rbm44	T	C	1: 91,084,562 (GRCm39)		probably null	Het
Rilpl2	T	C	5: 124,607,876 (GRCm39)	T115A	probably benign	Het
Rin3	A	G	12: 102,356,102 (GRCm39)	Y801C	probably damaging	Het
Rnf112	A	G	11: 61,340,273 (GRCm39)	V619A	probably damaging	Het
Rnf182	A	G	13: 43,821,563 (GRCm39)	E38G	probably benign	Het
Scgb2b24	T	A	7: 33,436,830 (GRCm39)	Y94F	probably damaging	Het
Serac1	C	A	17: 6,094,188 (GRCm39)		probably benign	Het
Shld2	T	C	14: 33,967,215 (GRCm39)	T114A	probably benign	Het
Slc6a19	A	T	13: 73,832,487 (GRCm39)	V402D	probably damaging	Het
Slco1a8	A	T	6: 141,917,961 (GRCm39)	H638Q	probably benign	Het
Slco2b1	T	A	7: 99,316,301 (GRCm39)	M410L	probably benign	Het
Smarca2	T	C	19: 26,753,469 (GRCm39)		probably benign	Het
Sorcs2	A	G	5: 36,386,555 (GRCm39)	V161A	probably damaging	Het
Spring1	T	C	5: 118,397,504 (GRCm39)	V162A	probably damaging	Het
Sptb	T	C	12: 76,645,501 (GRCm39)	E2029G	possibly damaging	Het
Stx7	T	A	10: 24,058,659 (GRCm39)		probably null	Het
Taf4b	T	C	18: 14,937,611 (GRCm39)	V228A	probably benign	Het
Tbc1d1	A	G	5: 64,507,273 (GRCm39)	*1163W	probably null	Het
Tor4a	G	A	2: 25,084,847 (GRCm39)	A352V	probably damaging	Het
Trpm4	A	G	7: 44,977,173 (GRCm39)	F81S	probably damaging	Het
Ttn	T	A	2: 76,780,436 (GRCm39)	D1105V	probably damaging	Het
Vcf1	T	A	11: 113,568,220 (GRCm39)	R78S	probably damaging	Het
Yju2b	T	A	8: 84,985,177 (GRCm39)	D364V	possibly damaging	Het
Zfp551	A	G	7: 12,150,101 (GRCm39)	L436P	probably damaging	Het
Zfp975	G	T	7: 42,312,312 (GRCm39)	D100E	probably benign	Het
Zswim3	A	G	2: 164,662,032 (GRCm39)	I171V	probably benign	Het
Zwint	C	T	10: 72,492,294 (GRCm39)		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
R1144:Sned1	UTSW	1	93,208,298 (GRCm39)	missense	probably damaging	0.98
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
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

PCR Primer
(F):5'- TGTGAGACAGGTGAGTGACC -3'
(R):5'- GCCTACCAGCCTCATATTGC -3'

Sequencing Primer
(F):5'- GTGAGTGACCTATACATGGGG -3'
(R):5'- AGCCTCATATTGCTGAGTTGC -3'

Posted On

2017-02-10