Mutagenetix > Incidental Mutation

Incidental Mutation 'R6631:Sned1'

525091

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

044753-MU

Accession Numbers

Essential gene?

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

Stock #

R6631 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93163563-93228787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93209374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 829 (E829G)

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: E829G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: E829G

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: E38G

SMART Domains

Protein: ENSMUSP00000132455
Gene: ENSMUSG00000047793
AA Change: E38G

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

0.1190

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,203,326 (GRCm39)	N159K	probably damaging	Het
Arhgef10l	T	C	4: 140,245,058 (GRCm39)		probably benign	Het
Atosa	A	G	9: 74,861,107 (GRCm39)	D4G	possibly damaging	Het
Avil	A	G	10: 126,843,618 (GRCm39)	S153G	possibly damaging	Het
C2cd3	G	A	7: 100,067,747 (GRCm39)	D877N	probably damaging	Het
Clca3a2	G	A	3: 144,519,405 (GRCm39)	A257V	probably benign	Het
Cramp1	T	A	17: 25,202,931 (GRCm39)	H366L	probably benign	Het
Cyp2c37	C	T	19: 39,998,287 (GRCm39)	S393L	probably damaging	Het
Defb8	T	A	8: 19,495,950 (GRCm39)	I37L	probably benign	Het
Dennd4b	C	A	3: 90,185,039 (GRCm39)		probably null	Het
Eps8l2	G	A	7: 140,936,115 (GRCm39)	R223H	probably damaging	Het
Erbin	A	G	13: 103,961,400 (GRCm39)	L1302P	probably benign	Het
Exoc3l	A	G	8: 106,021,993 (GRCm39)	W37R	probably damaging	Het
Fap	T	C	2: 62,333,725 (GRCm39)	N668S	probably damaging	Het
Gas7	A	G	11: 67,565,107 (GRCm39)	N250S	probably damaging	Het
H2bc12	T	A	13: 22,220,391 (GRCm39)	V112E	probably damaging	Het
Hivep1	C	A	13: 42,309,956 (GRCm39)	P732Q	probably damaging	Het
Irx4	G	T	13: 73,416,545 (GRCm39)	A314S	probably benign	Het
Itgb8	A	T	12: 119,144,712 (GRCm39)	L332*	probably null	Het
Kctd19	A	G	8: 106,111,960 (GRCm39)		probably null	Het
Kif14	G	A	1: 136,443,697 (GRCm39)	S1290N	probably benign	Het
Klk1b3	C	T	7: 43,850,888 (GRCm39)	T140I	probably benign	Het
Lama1	A	G	17: 68,081,477 (GRCm39)	N1305D	probably benign	Het
Lrp1	A	T	10: 127,410,201 (GRCm39)	V1515E	probably damaging	Het
Man2b1	A	G	8: 85,813,440 (GRCm39)		probably null	Het
Mocos	A	G	18: 24,832,988 (GRCm39)	T818A	probably benign	Het
Mpc2	G	T	1: 165,307,081 (GRCm39)	W94L	probably benign	Het
Mrc1	G	A	2: 14,243,296 (GRCm39)	V141I	probably benign	Het
Nalcn	T	C	14: 123,697,663 (GRCm39)	T538A	probably benign	Het
Ndufs3	G	A	2: 90,732,744 (GRCm39)	T114M	probably damaging	Het
Noct	T	C	3: 51,157,621 (GRCm39)	C320R	probably damaging	Het
Or5b117	T	A	19: 13,431,185 (GRCm39)	Q232L	probably benign	Het
Pcdha11	G	T	18: 37,138,844 (GRCm39)	A158S	probably damaging	Het
Pcdhga8	T	A	18: 37,860,109 (GRCm39)	D388E	probably benign	Het
Peg3	T	C	7: 6,712,069 (GRCm39)	E1051G	possibly damaging	Het
Phlda2	T	A	7: 143,055,918 (GRCm39)	I104F	probably damaging	Het
Polr2a	A	G	11: 69,626,339 (GRCm39)	S1604P	possibly damaging	Het
Pomt2	C	T	12: 87,186,417 (GRCm39)		probably null	Het
Ppp6r2	G	A	15: 89,137,458 (GRCm39)		probably null	Het
Prdm2	T	G	4: 142,861,454 (GRCm39)	Q612P	probably benign	Het
Prr5	C	A	15: 84,586,978 (GRCm39)	R243S	probably damaging	Het
Ptgdr2	T	C	19: 10,918,233 (GRCm39)	I250T	probably benign	Het
Rad54l2	A	T	9: 106,590,739 (GRCm39)	C462*	probably null	Het
Sec16a	T	A	2: 26,329,969 (GRCm39)	E682V	probably damaging	Het
Serpina3i	A	G	12: 104,232,725 (GRCm39)	D210G	probably damaging	Het
Slain2	T	A	5: 73,114,748 (GRCm39)	D326E	probably benign	Het
Steap4	G	A	5: 8,026,995 (GRCm39)	W319*	probably null	Het
Taar8c	A	G	10: 23,977,701 (GRCm39)	V37A	probably benign	Het
Tdrd12	T	A	7: 35,184,654 (GRCm39)	Y753F	probably damaging	Het
Tnxb	A	G	17: 34,937,222 (GRCm39)	S3770G	probably damaging	Het
Trrap	A	G	5: 144,708,460 (GRCm39)	N48S	possibly damaging	Het
Zfp558	C	A	9: 18,368,219 (GRCm39)	G190*	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
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
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
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'- AAACTCCCAAGGCTGTGGTG -3'
(R):5'- TGAGCATGTGTTCCTGGAAG -3'

Sequencing Primer
(F):5'- AAGGCTGTGGTGACCCG -3'
(R):5'- CATGTGTTCCTGGAAGTGGAAG -3'

Posted On

2018-06-22