Mutagenetix > Incidental Mutation

Incidental Mutation 'R1069:Sned1'

86114

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

039155-MU

Accession Numbers

Essential gene?

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

Stock #

R1069 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

93163563-93228787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93209376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 830 (V830M)

Ref Sequence

ENSEMBL: ENSMUSP00000050832 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062202
AA Change: V830M

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: V830M

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: V39M

SMART Domains

Protein: ENSMUSP00000132455
Gene: ENSMUSG00000047793
AA Change: V39M

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

0.1152

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	G	18: 6,624,037 (GRCm39)	N106S	probably benign	Het
Akr1c21	C	A	13: 4,625,333 (GRCm39)		probably benign	Het
Alpk2	G	A	18: 65,438,085 (GRCm39)	R1570C	probably benign	Het
Atp8b3	G	A	10: 80,366,852 (GRCm39)	R249C	probably damaging	Het
Cacnb4	C	A	2: 52,345,623 (GRCm39)	R252I	probably damaging	Het
Cars1	T	C	7: 143,123,844 (GRCm39)	T480A	probably benign	Het
Ccnf	A	T	17: 24,442,971 (GRCm39)	C745*	probably null	Het
Ccr8	A	G	9: 119,923,283 (GRCm39)	I133V	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Dgkq	T	C	5: 108,803,903 (GRCm39)		probably benign	Het
Ecd	A	G	14: 20,383,504 (GRCm39)	C312R	probably damaging	Het
Eddm13	A	T	7: 6,258,921 (GRCm39)		probably null	Het
Gstm1	T	C	3: 107,920,064 (GRCm39)	S226G	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hacd4	T	A	4: 88,355,739 (GRCm39)	I49L	probably damaging	Het
Hid1	T	C	11: 115,247,591 (GRCm39)	N269S	probably damaging	Het
Ifitm3	A	T	7: 140,589,813 (GRCm39)		probably benign	Het
Kctd9	C	T	14: 67,966,869 (GRCm39)		probably benign	Het
Kif20b	T	C	19: 34,928,251 (GRCm39)	L1131P	probably damaging	Het
Kif2c	T	C	4: 117,035,350 (GRCm39)	T33A	probably damaging	Het
Lipc	T	C	9: 70,730,819 (GRCm39)	T38A	probably benign	Het
Lrguk	A	C	6: 34,025,818 (GRCm39)	I205L	possibly damaging	Het
Mir100hg	G	A	9: 41,501,594 (GRCm39)	R151H	possibly damaging	Het
Ncapg	T	A	5: 45,833,272 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 75,916,724 (GRCm39)		probably benign	Het
Ptprd	T	A	4: 76,018,870 (GRCm39)	K635*	probably null	Het
Sap130	G	A	18: 31,844,682 (GRCm39)	V898I	probably damaging	Het
Svep1	C	T	4: 58,070,239 (GRCm39)	G2516R	probably damaging	Het
Tas2r131	C	T	6: 132,934,788 (GRCm39)	R7K	probably benign	Het
Tfpi	A	G	2: 84,284,136 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,338,909 (GRCm39)	C580R	probably damaging	Het
Ttn	T	A	2: 76,800,273 (GRCm39)	I312F	unknown	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
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'- CCATCCTCTTGCTGGACAAGCTAC -3'
(R):5'- TCCTGAAAAGCCTGACCAAGTGTG -3'

Sequencing Primer
(F):5'- TTGCTGGACAAGCTACTCAGAG -3'
(R):5'- GCCTATCCAGGGACAACAGAG -3'

Posted On

2013-11-18