Mutagenetix > Incidental Mutation

Incidental Mutation 'R7679:Sned1'

592616

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

045707-MU

Accession Numbers

Essential gene?

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

Stock #

R7679 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93163563-93228787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93163760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 17 (L17P)

Ref Sequence

ENSEMBL: ENSMUSP00000050832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062202] [ENSMUST00000138595]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000062202
AA Change: L17P

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: L17P

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: ENSMUST00000138595

SMART Domains

Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989

Domain	Start	End	E-Value	Type
low complexity region	67	82	N/A	INTRINSIC
Pfam:Rootletin	89	260	5.1e-24	PFAM
coiled coil region	281	346	N/A	INTRINSIC
internal_repeat_1	381	424	9.68e-9	PROSPERO
internal_repeat_3	389	414	5.46e-6	PROSPERO
internal_repeat_4	398	425	1.1e-5	PROSPERO
coiled coil region	426	627	N/A	INTRINSIC
coiled coil region	655	1247	N/A	INTRINSIC
internal_repeat_2	1252	1280	6.61e-7	PROSPERO
internal_repeat_4	1341	1374	1.1e-5	PROSPERO
internal_repeat_1	1347	1384	9.68e-9	PROSPERO
coiled coil region	1403	1512	N/A	INTRINSIC
coiled coil region	1539	1582	N/A	INTRINSIC
low complexity region	1590	1604	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	C	14: 78,752,256 (GRCm39)	Y206D		Het
Atm	A	T	9: 53,353,797 (GRCm39)	I2906N	probably damaging	Het
B4galnt4	T	C	7: 140,647,678 (GRCm39)	V422A	probably benign	Het
Bod1l	TTCAGGGATC	TTC	5: 41,977,986 (GRCm39)		probably null	Het
Ccar2	G	A	14: 70,376,684 (GRCm39)	Q887*	probably null	Het
Cdh13	A	G	8: 119,963,658 (GRCm39)	I413V	probably benign	Het
Cfap54	A	G	10: 92,803,374 (GRCm39)	V1556A	probably benign	Het
Chchd7	A	T	4: 3,941,297 (GRCm39)	N14Y	probably damaging	Het
Col24a1	C	A	3: 145,105,110 (GRCm39)	T824N	possibly damaging	Het
Col6a3	A	T	1: 90,739,473 (GRCm39)	Y859N	possibly damaging	Het
Dnaaf5	C	T	5: 139,136,392 (GRCm39)	P131S	unknown	Het
Erh	T	C	12: 80,684,345 (GRCm39)	N44S	probably benign	Het
Esm1	T	A	13: 113,346,646 (GRCm39)	D90E	probably damaging	Het
Fbxo44	A	G	4: 148,238,089 (GRCm39)	F213L	probably benign	Het
Flnc	A	G	6: 29,456,789 (GRCm39)	T2262A	probably benign	Het
Fmo9	T	C	1: 166,495,058 (GRCm39)	Q281R	probably benign	Het
Gdpgp1	G	T	7: 79,888,324 (GRCm39)	E118D	probably benign	Het
Gnas	A	T	2: 174,126,624 (GRCm39)	Q53L	probably damaging	Het
Gpr142	G	A	11: 114,697,533 (GRCm39)	V360M	possibly damaging	Het
Grn	A	G	11: 102,323,895 (GRCm39)	D46G	probably benign	Het
H2-T10	A	G	17: 36,430,216 (GRCm39)	F242L	not run	Het
Hgsnat	T	C	8: 26,444,665 (GRCm39)	T428A	probably damaging	Het
Hoxa9	A	G	6: 52,201,288 (GRCm39)	I251T	probably damaging	Het
Inpp5f	C	T	7: 128,296,247 (GRCm39)	T866I	possibly damaging	Het
Itgb1	T	A	8: 129,446,929 (GRCm39)	N481K	probably damaging	Het
Leng9	C	A	7: 4,152,659 (GRCm39)	D6Y	probably benign	Het
Lox	A	C	18: 52,658,178 (GRCm39)	F332V	possibly damaging	Het
Lrp1	G	T	10: 127,424,297 (GRCm39)	Y796*	probably null	Het
Lrrc32	G	A	7: 98,148,894 (GRCm39)	G558D	possibly damaging	Het
Lrrk2	A	G	15: 91,610,389 (GRCm39)	E707G	possibly damaging	Het
Matn4	A	G	2: 164,231,578 (GRCm39)	*625R	probably null	Het
Mcur1	T	A	13: 43,697,959 (GRCm39)	K314*	probably null	Het
Med1	G	C	11: 98,046,887 (GRCm39)	P1303R	unknown	Het
Mgam	T	C	6: 40,619,980 (GRCm39)	L23P	probably damaging	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Nfatc1	T	C	18: 80,651,205 (GRCm39)	I936V	probably benign	Het
Nol11	T	C	11: 107,064,142 (GRCm39)	S557G	probably benign	Het
Palb2	A	G	7: 121,727,237 (GRCm39)	I211T	probably benign	Het
Pard3	T	C	8: 128,098,327 (GRCm39)	V456A	probably benign	Het
Pax2	G	A	19: 44,749,376 (GRCm39)	V40M	probably damaging	Het
Pik3cb	T	C	9: 98,970,660 (GRCm39)	K344E	probably benign	Het
Pik3r3	T	A	4: 116,113,392 (GRCm39)	M45K	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pot1a	A	G	6: 25,771,633 (GRCm39)	V196A	probably benign	Het
Prkdc	T	A	16: 15,649,183 (GRCm39)	I3719N	probably damaging	Het
Psg16	G	A	7: 16,827,685 (GRCm39)	G123S	probably damaging	Het
Psme4	A	G	11: 30,828,425 (GRCm39)	D1815G	probably damaging	Het
Rpe65	C	T	3: 159,310,030 (GRCm39)	T101I	probably damaging	Het
Rpp25l	A	C	4: 41,712,326 (GRCm39)	C150G	unknown	Het
Saxo4	T	C	19: 10,459,618 (GRCm39)	T30A	probably damaging	Het
Serpina1b	A	T	12: 103,696,774 (GRCm39)	W212R	probably damaging	Het
Slc9a3	G	A	13: 74,308,395 (GRCm39)	R466H	possibly damaging	Het
Speg	C	T	1: 75,382,959 (GRCm39)	T1056I	probably damaging	Het
Tada1	T	C	1: 166,219,540 (GRCm39)	F281L	probably benign	Het
Tbcd	G	A	11: 121,494,534 (GRCm39)	V1032I	probably benign	Het
Tlr3	A	T	8: 45,852,088 (GRCm39)	S270T	probably benign	Het
Txndc15	G	T	13: 55,873,621 (GRCm39)	R327L	probably damaging	Het
Zfp169	G	C	13: 48,651,859 (GRCm39)	L66V	probably damaging	Het
Zfp442	G	T	2: 150,252,917 (GRCm39)	Y45*	probably null	Het
Zzef1	A	G	11: 72,784,104 (GRCm39)	D2003G	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
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
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'- GGCTATTTAAACCCCGGTCC -3'
(R):5'- AAGCGCTGTCCTCATTCCAC -3'

Sequencing Primer
(F):5'- GTGCCTCACGCCTTCCTAAG -3'
(R):5'- GAGCTCGGGGTTACTCACGTAG -3'

Posted On

2019-11-12