Mutagenetix > Incidental Mutation

Incidental Mutation 'R4282:Sned1'

322920

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

041650-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4282 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93163563-93228787 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 93213577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 426 (R426*)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000062202
AA Change: R1217*

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: R1217*

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 null
Transcript: ENSMUST00000163688
AA Change: R426*

SMART Domains

Protein: ENSMUSP00000132455
Gene: ENSMUSG00000047793
AA Change: R426*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092K14Rik	A	C	11: 114,089,970 (GRCm39)		noncoding transcript	Het
Abca17	G	T	17: 24,518,034 (GRCm39)	D758E	possibly damaging	Het
Adam28	A	G	14: 68,885,155 (GRCm39)	V65A	possibly damaging	Het
Adgra2	T	A	8: 27,609,272 (GRCm39)	M616K	possibly damaging	Het
Aldh3b2	A	G	19: 4,027,636 (GRCm39)	D59G	probably benign	Het
Ankrd28	A	G	14: 31,467,182 (GRCm39)	V260A	possibly damaging	Het
Bbs7	A	G	3: 36,627,720 (GRCm39)	V689A	probably damaging	Het
Cacna1e	A	G	1: 154,302,296 (GRCm39)	F1653S	probably benign	Het
Cd55b	T	C	1: 130,344,596 (GRCm39)	D213G	probably damaging	Het
Colgalt2	G	A	1: 152,344,282 (GRCm39)	V115M	probably damaging	Het
Ddx60	T	C	8: 62,447,427 (GRCm39)	V1138A	probably damaging	Het
Defa27	A	G	8: 21,805,632 (GRCm39)	N24S	probably benign	Het
Defb40	A	G	8: 19,028,093 (GRCm39)	S14P	probably damaging	Het
Dnmt3a	G	A	12: 3,951,665 (GRCm39)	G681R	probably damaging	Het
Dus2	C	T	8: 106,775,286 (GRCm39)	A271V	probably benign	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Fancg	T	C	4: 43,003,830 (GRCm39)	D533G	probably damaging	Het
Frem3	T	C	8: 81,340,770 (GRCm39)	V1021A	probably benign	Het
Gmip	T	A	8: 70,266,251 (GRCm39)		probably benign	Het
Hspb6	T	C	7: 30,252,889 (GRCm39)	S44P	possibly damaging	Het
Jsrp1	T	C	10: 80,646,190 (GRCm39)	I50V	probably benign	Het
Kansl1	T	C	11: 104,269,515 (GRCm39)	N476S	probably benign	Het
Kcnq2	T	C	2: 180,722,946 (GRCm39)	D810G	probably damaging	Het
Magea14	T	C	X: 51,057,867 (GRCm39)	Y273C	probably damaging	Het
Maml2	C	A	9: 13,531,406 (GRCm39)	L207I	possibly damaging	Het
Myo3a	A	T	2: 22,345,089 (GRCm39)	E508D	probably benign	Het
Nav1	T	A	1: 135,385,651 (GRCm39)		probably benign	Het
Ndrg3	A	T	2: 156,790,214 (GRCm39)	C90S	possibly damaging	Het
Orc1	A	G	4: 108,463,471 (GRCm39)	S663G	probably benign	Het
Pcdhb14	T	A	18: 37,583,195 (GRCm39)	L767H	probably damaging	Het
Pcgf1	T	A	6: 83,056,714 (GRCm39)	L90Q	probably damaging	Het
Pnma5	T	C	X: 72,079,036 (GRCm39)	M549V	probably benign	Het
Por	C	A	5: 135,744,815 (GRCm39)	T26K	possibly damaging	Het
Ppp4r3c1	A	T	X: 88,976,105 (GRCm39)	W31R	probably damaging	Het
Qsox1	T	A	1: 155,662,671 (GRCm39)		probably null	Het
Rad51ap2	T	A	12: 11,506,465 (GRCm39)	V129D	probably benign	Het
Rec8	A	G	14: 55,856,091 (GRCm39)	H11R	probably damaging	Het
Rxfp2	T	G	5: 149,993,735 (GRCm39)	V585G	possibly damaging	Het
Sftpd	G	A	14: 40,894,537 (GRCm39)	T294I	probably benign	Het
Sh3gl1	A	G	17: 56,343,456 (GRCm39)	S2P	probably damaging	Het
Slc38a10	A	T	11: 120,020,090 (GRCm39)	F321I	probably damaging	Het
Slc4a10	T	A	2: 62,074,687 (GRCm39)		probably null	Het
Slco6b1	A	G	1: 96,925,115 (GRCm39)		noncoding transcript	Het
Slit1	T	C	19: 41,602,856 (GRCm39)	E985G	probably benign	Het
Smurf1	C	T	5: 144,819,403 (GRCm39)	E575K	probably damaging	Het
Tas2r123	G	A	6: 132,825,008 (GRCm39)	V302I	possibly damaging	Het
Tmem182	T	C	1: 40,877,530 (GRCm39)	I135T	probably damaging	Het
Tmem67	T	C	4: 12,073,922 (GRCm39)	Y298C	probably damaging	Het
Trappc9	A	G	15: 72,462,641 (GRCm39)	C1026R	probably damaging	Het
Troap	A	G	15: 98,976,713 (GRCm39)	D279G	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r23	T	C	6: 57,903,452 (GRCm39)	T109A	probably benign	Het
Vmn2r25	A	T	6: 123,800,606 (GRCm39)	C579S	probably damaging	Het
Zbtb18	A	G	1: 177,275,045 (GRCm39)	D126G	probably damaging	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
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'- TGGCCTCTGCTTAGAAAGGTG -3'
(R):5'- CAAGCTCTGAGAACCTGCAG -3'

Sequencing Primer
(F):5'- TGACACAGGCTTCTTAGGC -3'
(R):5'- CAGACAGGGCAGGAGGGTC -3'

Posted On

2015-06-20