Mutagenetix > Incidental Mutation

Incidental Mutation 'R0372:Sned1'

30509

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

038578-MU

Accession Numbers

Essential gene?

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

Stock #

R0372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93163563-93228787 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 93213673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062202

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793

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: ENSMUST00000168122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172289

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	A	14: 64,210,931 (GRCm39)	Q99L	probably damaging	Het
Abca2	A	G	2: 25,327,365 (GRCm39)	Y641C	probably damaging	Het
Abhd10	A	G	16: 45,557,254 (GRCm39)		probably null	Het
Acan	G	T	7: 78,750,349 (GRCm39)	A1707S	probably benign	Het
Ankrd61	T	A	5: 143,827,993 (GRCm39)	R284S	probably benign	Het
Ap3d1	T	C	10: 80,559,401 (GRCm39)	K258E	probably damaging	Het
Arl6ip6	T	G	2: 53,092,933 (GRCm39)	F153V	probably damaging	Het
Atp2c2	C	A	8: 120,484,180 (GRCm39)	F930L	probably benign	Het
Avl9	T	C	6: 56,703,309 (GRCm39)		probably null	Het
Axin2	A	G	11: 108,814,159 (GRCm39)	S16G	probably damaging	Het
Axin2	T	A	11: 108,814,936 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,656,981 (GRCm39)	D282E	probably benign	Het
Ccny	A	T	18: 9,345,201 (GRCm39)	V191D	probably damaging	Het
Cdk11b	A	G	4: 155,725,957 (GRCm39)		probably benign	Het
Chd1	T	A	17: 17,607,552 (GRCm39)	C367S	probably benign	Het
Cnnm4	G	A	1: 36,537,091 (GRCm39)	V472M	probably damaging	Het
Cpb2	T	A	14: 75,479,817 (GRCm39)	I8N	probably benign	Het
Dusp11	A	G	6: 85,935,712 (GRCm39)		probably benign	Het
Elmo1	T	C	13: 20,756,629 (GRCm39)		probably null	Het
Gbf1	C	T	19: 46,274,143 (GRCm39)	P1726S	probably benign	Het
Hal	A	G	10: 93,343,415 (GRCm39)		probably benign	Het
Hlcs	T	C	16: 93,939,766 (GRCm39)	I671V	possibly damaging	Het
Ifnab	A	G	4: 88,609,071 (GRCm39)	S132P	probably benign	Het
Ing5	T	C	1: 93,740,142 (GRCm39)	I70T	probably damaging	Het
Ints1	T	C	5: 139,758,193 (GRCm39)	N228S	probably damaging	Het
Itgb6	T	A	2: 60,458,185 (GRCm39)	I523F	probably benign	Het
Kat2b	T	C	17: 53,945,565 (GRCm39)	F328S	possibly damaging	Het
Kbtbd3	A	T	9: 4,316,950 (GRCm39)	I34F	possibly damaging	Het
Klhl11	A	T	11: 100,354,348 (GRCm39)	I491N	probably damaging	Het
Lmo7	A	T	14: 102,155,489 (GRCm39)		probably benign	Het
Lrp1	G	T	10: 127,428,005 (GRCm39)	P523T	probably damaging	Het
Lrp1b	T	A	2: 40,620,810 (GRCm39)	D3556V	probably benign	Het
Lrp2	T	A	2: 69,365,387 (GRCm39)	H262L	probably benign	Het
Lrrc27	T	A	7: 138,806,103 (GRCm39)	I256K	probably benign	Het
Lrrc47	G	A	4: 154,104,089 (GRCm39)	R523K	probably benign	Het
Lrrc71	A	T	3: 87,653,084 (GRCm39)	S111T	probably benign	Het
Map3k7cl	T	C	16: 87,378,100 (GRCm39)	V72A	probably damaging	Het
Mphosph10	G	T	7: 64,038,603 (GRCm39)		probably benign	Het
Nlrp4a	T	C	7: 26,148,657 (GRCm39)		probably benign	Het
Nsd2	A	T	5: 34,048,895 (GRCm39)	M1140L	probably damaging	Het
Nt5dc3	T	C	10: 86,661,155 (GRCm39)	M440T	possibly damaging	Het
Oog4	A	T	4: 143,164,259 (GRCm39)	L424Q	probably damaging	Het
Or5h17	T	C	16: 58,820,450 (GRCm39)	V134A	probably benign	Het
Orc5	A	T	5: 22,738,782 (GRCm39)	Y160N	possibly damaging	Het
Papola	T	C	12: 105,785,097 (GRCm39)	F410L	probably benign	Het
Pcdh10	A	G	3: 45,333,932 (GRCm39)	E82G	probably damaging	Het
Pcdh20	T	C	14: 88,706,439 (GRCm39)	Y287C	probably damaging	Het
Pld1	T	A	3: 28,142,787 (GRCm39)		probably null	Het
Plekha8	G	A	6: 54,593,743 (GRCm39)		probably null	Het
Ppbp	C	T	5: 90,917,202 (GRCm39)	T93M	possibly damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Rab3gap2	C	T	1: 184,994,891 (GRCm39)	T810M	possibly damaging	Het
Rassf9	A	G	10: 102,381,872 (GRCm39)	N418S	possibly damaging	Het
Rnf20	C	G	4: 49,650,176 (GRCm39)	R582G	possibly damaging	Het
Serpine2	T	C	1: 79,799,147 (GRCm39)	I36V	probably damaging	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Slc24a2	A	T	4: 87,145,529 (GRCm39)	V175E	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spg11	GCC	G	2: 121,889,928 (GRCm39)		probably null	Het
Tecrl	C	T	5: 83,442,506 (GRCm39)	C189Y	probably damaging	Het
Tert	A	G	13: 73,797,110 (GRCm39)	D1116G	probably damaging	Het
Thnsl2	T	C	6: 71,116,774 (GRCm39)	Y126C	probably damaging	Het
Tll2	T	C	19: 41,171,752 (GRCm39)		probably null	Het
Ubqln4	C	T	3: 88,463,276 (GRCm39)	S147L	probably benign	Het
Ugt2b5	A	T	5: 87,288,117 (GRCm39)	C17S	probably benign	Het
Vps41	A	T	13: 19,026,417 (GRCm39)	Q505L	probably benign	Het
Zfp386	T	C	12: 116,018,436 (GRCm39)	M35T	possibly damaging	Het
Zfp777	T	C	6: 48,021,410 (GRCm39)	M71V	possibly damaging	Het
Zfp938	A	T	10: 82,063,662 (GRCm39)	L34Q	probably damaging	Het
Zfp974	A	T	7: 27,620,120 (GRCm39)		probably null	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
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
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

PCR Primer
(F):5'- GCATAAGTGCATGGCCTCTGCTTAG -3'
(R):5'- CCAGGAAGTTTGCAATACGCACG -3'

Sequencing Primer
(F):5'- CACAGGCTTCTTAGGCAATG -3'
(R):5'- ACGTGATCTCACAGTTACTGC -3'

Posted On

2013-04-24