Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02567:Sned1'

298877

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sned1

Ensembl Gene

ENSMUSG00000047793

Gene Name

sushi, nidogen and EGF-like domains 1

Synonyms

6720455I24Rik, D430044C15Rik, Snep

Accession Numbers

Is this an essential gene?

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

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

93235841-93301065 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93274347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 619 (K619M)

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: K619M

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: K619M

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

noncoding transcript
Transcript: ENSMUST00000165843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185062

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,372,751	S199R	possibly damaging	Het
Ano1	A	G	7: 144,611,625	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564	V404M	probably damaging	Het
Carmil3	A	G	14: 55,498,882	S635G	possibly damaging	Het
Ccl12	C	A	11: 82,102,621	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr3	T	C	12: 33,038,901	N761D	probably benign	Het
Col14a1	T	C	15: 55,344,961		probably null	Het
Col28a1	T	C	6: 8,014,819	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,186,640		probably benign	Het
D5Ertd615e	T	C	5: 45,163,416		noncoding transcript	Het
Deup1	T	C	9: 15,575,283	E367G	probably damaging	Het
Dpp8	T	G	9: 65,078,776	Y849*	probably null	Het
Efhc1	T	A	1: 20,972,964	V369E	probably damaging	Het
Epg5	A	G	18: 78,033,073	Y2562C	probably damaging	Het
Fam189a1	T	A	7: 64,786,731	M101L	possibly damaging	Het
Fbln5	A	G	12: 101,761,800		probably null	Het
Frem1	A	T	4: 83,000,055	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281	S889G	probably benign	Het
Golph3	C	T	15: 12,349,421	R176*	probably null	Het
Got2	A	T	8: 95,872,201	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,213,048		probably benign	Het
Hist4h4	G	A	6: 136,804,274	R36W	probably damaging	Het
Hivep3	A	G	4: 120,133,956	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,926,248	G227D	probably benign	Het
Ifi202b	C	T	1: 173,963,804	S436N	possibly damaging	Het
Nf1	T	A	11: 79,547,143	V2109D	probably damaging	Het
Opa1	C	A	16: 29,588,286	D29E	probably benign	Het
Papln	C	T	12: 83,778,837	P631S	probably benign	Het
Pde4c	T	A	8: 70,747,921	M352K	probably benign	Het
Pigu	T	C	2: 155,331,192	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,346,040	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,744,274	D642G	probably damaging	Het
Rnf111	T	C	9: 70,459,005	T384A	probably damaging	Het
Scn11a	T	C	9: 119,804,489	T393A	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syt9	A	G	7: 107,436,661	Y295C	probably damaging	Het
Taar7f	T	A	10: 24,050,425	Y306N	probably damaging	Het
Tmem107	T	G	11: 69,071,019	L25V	possibly damaging	Het
Wdr24	T	G	17: 25,824,348	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,849	D231G	probably benign	Het
Zfp142	T	A	1: 74,578,147	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,578,149	K341T	possibly damaging	Het
Zfp142	T	C	1: 74,578,150	K341E	possibly damaging	Het
Zfp804b	T	A	5: 6,769,989	I989L	probably benign	Het
Zfyve9	A	C	4: 108,674,523	V1095G	probably damaging	Het

Other mutations in Sned1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Sned1	APN	1	93274169	splice site	probably benign
IGL00955:Sned1	APN	1	93274403	missense	probably damaging	1.00
IGL01367:Sned1	APN	1	93283214	missense	probably benign	0.32
IGL02116:Sned1	APN	1	93281725	nonsense	probably null
IGL02195:Sned1	APN	1	93274160	missense	probably benign	0.03
IGL02390:Sned1	APN	1	93261664	missense	probably benign
IGL02423:Sned1	APN	1	93283600	missense	probably benign
IGL02451:Sned1	APN	1	93236208	splice site	probably benign
IGL03184:Sned1	APN	1	93274668	missense	probably benign	0.01
IGL03328:Sned1	APN	1	93289367	missense	probably benign
R0257:Sned1	UTSW	1	93265097	missense	possibly damaging	0.75
R0372:Sned1	UTSW	1	93285951	splice site	probably benign
R0525:Sned1	UTSW	1	93271974	splice site	probably null
R0727:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R0759:Sned1	UTSW	1	93272564	missense	probably damaging	1.00
R0965:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R0968:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R0969:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1006:Sned1	UTSW	1	93256392	missense	probably damaging	1.00
R1068:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1069:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1070:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1112:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1113:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1114:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1115:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1118:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1119:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1144:Sned1	UTSW	1	93280576	missense	probably damaging	0.98
R1228:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1230:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1231:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1313:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1313:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1340:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1382:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1383:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1394:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1395:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1397:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1414:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1430:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1432:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1473:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1503:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1563:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1565:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1689:Sned1	UTSW	1	93283372	missense	probably damaging	0.99
R1695:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1734:Sned1	UTSW	1	93259768	missense	probably damaging	1.00
R1764:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1767:Sned1	UTSW	1	93281654	missense	possibly damaging	0.89
R1896:Sned1	UTSW	1	93265047	missense	probably benign	0.16
R1916:Sned1	UTSW	1	93274162	missense	probably null	1.00
R1945:Sned1	UTSW	1	93271238	missense	probably benign	0.01
R1972:Sned1	UTSW	1	93265073	missense	probably damaging	1.00
R1973:Sned1	UTSW	1	93265073	missense	probably damaging	1.00
R2143:Sned1	UTSW	1	93271684	missense	probably damaging	1.00
R2144:Sned1	UTSW	1	93271684	missense	probably damaging	1.00
R2145:Sned1	UTSW	1	93271684	missense	probably damaging	1.00
R2153:Sned1	UTSW	1	93274657	missense	probably benign	0.01
R2273:Sned1	UTSW	1	93281642	splice site	probably null
R2274:Sned1	UTSW	1	93281642	splice site	probably null
R2275:Sned1	UTSW	1	93281642	splice site	probably null
R2340:Sned1	UTSW	1	93256452	missense	probably damaging	0.98
R3237:Sned1	UTSW	1	93259003	missense	probably benign	0.21
R3747:Sned1	UTSW	1	93261751	missense	probably damaging	1.00
R3879:Sned1	UTSW	1	93265030	splice site	probably benign
R4281:Sned1	UTSW	1	93285855	nonsense	probably null
R4282:Sned1	UTSW	1	93285855	nonsense	probably null
R4356:Sned1	UTSW	1	93265391	splice site	probably null
R4358:Sned1	UTSW	1	93274659	missense	probably benign	0.01
R4677:Sned1	UTSW	1	93296297	unclassified	probably benign
R5291:Sned1	UTSW	1	93295724	missense	possibly damaging	0.80
R5340:Sned1	UTSW	1	93282757	missense	probably benign	0.09
R5542:Sned1	UTSW	1	93271602	missense	probably benign
R5582:Sned1	UTSW	1	93282361	missense	probably damaging	1.00
R5874:Sned1	UTSW	1	93265345	missense	probably damaging	1.00
R6159:Sned1	UTSW	1	93282937	missense	probably benign	0.00
R6175:Sned1	UTSW	1	93275474	splice site	probably null
R6445:Sned1	UTSW	1	93283596	missense	possibly damaging	0.89
R6631:Sned1	UTSW	1	93281652	missense	probably damaging	1.00
R7018:Sned1	UTSW	1	93284421	missense	probably damaging	1.00
R7035:Sned1	UTSW	1	93262130	missense	probably damaging	1.00
R7047:Sned1	UTSW	1	93285818	missense	possibly damaging	0.51
R7347:Sned1	UTSW	1	93281736	missense	probably damaging	1.00
R7427:Sned1	UTSW	1	93289358	missense	probably benign	0.11
R7581:Sned1	UTSW	1	93256545	missense	probably benign	0.00
R7679:Sned1	UTSW	1	93236038	missense	unknown
R7899:Sned1	UTSW	1	93274082	missense	probably benign	0.04
R8093:Sned1	UTSW	1	93274665	missense	possibly damaging	0.82
R8124:Sned1	UTSW	1	93282989	critical splice donor site	probably null
R8489:Sned1	UTSW	1	93283256	nonsense	probably null
R9012:Sned1	UTSW	1	93284598	missense	probably damaging	0.99
R9290:Sned1	UTSW	1	93271663	nonsense	probably null
X0025:Sned1	UTSW	1	93261687	missense	probably damaging	1.00
Z1176:Sned1	UTSW	1	93259042	missense	probably damaging	1.00
Z1177:Sned1	UTSW	1	93285820	missense	probably damaging	0.96

Posted On

2015-04-16