Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03184:Sned1'

412395

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sned1

Ensembl Gene

ENSMUSG00000047793

Gene Name

sushi, nidogen and EGF-like domains 1

Synonyms

D430044C15Rik, 6720455I24Rik, Snep

Accession Numbers

Essential gene?

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

Stock #

IGL03184

Quality Score

Status

Chromosome

Chromosomal Location

93163563-93228787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93202390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 678 (D678G)

Ref Sequence

ENSEMBL: ENSMUSP00000050832 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062202
AA Change: D678G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
AA Change: D678G

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,570 (GRCm39)	Y992H	possibly damaging	Het
Actmap	A	G	7: 26,896,432 (GRCm39)		probably benign	Het
Adcy7	T	A	8: 89,035,271 (GRCm39)	D58E	probably benign	Het
Aff2	G	A	X: 68,810,840 (GRCm39)	V404M	possibly damaging	Het
Ankhd1	T	A	18: 36,780,830 (GRCm39)	L1961M	probably damaging	Het
Brms1l	T	C	12: 55,915,062 (GRCm39)	*324Q	probably null	Het
Bub1b	T	C	2: 118,440,258 (GRCm39)		probably benign	Het
Cacna1b	A	G	2: 24,548,501 (GRCm39)		probably null	Het
Clrn1	T	A	3: 58,753,645 (GRCm39)	T239S	probably benign	Het
Clta	T	C	4: 44,025,514 (GRCm39)	Y145H	probably benign	Het
Coro6	T	C	11: 77,354,779 (GRCm39)	V14A	probably damaging	Het
Cyp4a30b	A	G	4: 115,316,216 (GRCm39)	D314G	probably damaging	Het
Fn1	T	C	1: 71,648,656 (GRCm39)	N1418D	probably benign	Het
Fshr	A	C	17: 89,354,068 (GRCm39)	L97V	possibly damaging	Het
Gcm2	T	C	13: 41,258,888 (GRCm39)	Q152R	probably damaging	Het
Gcnt2	A	G	13: 41,041,660 (GRCm39)	N273S	probably benign	Het
Gm11437	A	T	11: 84,047,090 (GRCm39)		probably benign	Het
Gm4559	A	G	7: 141,828,046 (GRCm39)	S19P	unknown	Het
Igsf8	T	G	1: 172,146,199 (GRCm39)	I462R	probably damaging	Het
Kirrel3	T	C	9: 34,919,052 (GRCm39)	F243S	probably damaging	Het
Krt80	C	T	15: 101,250,135 (GRCm39)	V37M	probably damaging	Het
Lama4	T	C	10: 38,954,839 (GRCm39)	Y1131H	probably damaging	Het
Mrpl21	T	C	19: 3,342,529 (GRCm39)		probably benign	Het
Mtcl1	T	C	17: 66,661,209 (GRCm39)	N923S	probably benign	Het
Nectin2	G	A	7: 19,472,231 (GRCm39)	P53S	possibly damaging	Het
Nup98	G	A	7: 101,832,752 (GRCm39)	T335I	probably damaging	Het
Or2y1e	C	A	11: 49,218,568 (GRCm39)	T110K	probably damaging	Het
Or4a74	T	C	2: 89,439,912 (GRCm39)	D178G	probably damaging	Het
Or4e5	A	G	14: 52,728,380 (GRCm39)	S14P	probably benign	Het
Or51a42	T	A	7: 103,708,054 (GRCm39)	I252F	probably damaging	Het
Or6c69c	T	C	10: 129,910,627 (GRCm39)	M116T	possibly damaging	Het
Pcdhb14	A	G	18: 37,582,085 (GRCm39)	E397G	probably benign	Het
Pcgf5	T	G	19: 36,412,076 (GRCm39)		probably benign	Het
Pclo	C	T	5: 14,764,457 (GRCm39)	P1025L	probably damaging	Het
Pdcd1lg2	C	A	19: 29,431,911 (GRCm39)	F226L	probably benign	Het
Pik3ca	T	A	3: 32,494,035 (GRCm39)	S332R	probably benign	Het
Plek	A	T	11: 16,931,887 (GRCm39)	D321E	probably benign	Het
Pm20d2	A	G	4: 33,179,241 (GRCm39)	F333L	probably damaging	Het
Polk	T	C	13: 96,620,491 (GRCm39)	T570A	probably benign	Het
Rpgrip1l	G	A	8: 92,027,437 (GRCm39)	L201F	probably damaging	Het
Serpinb2	T	A	1: 107,452,607 (GRCm39)	L395H	probably damaging	Het
Slc9c1	T	G	16: 45,368,003 (GRCm39)	S197R	probably damaging	Het
Smg1	T	A	7: 117,779,603 (GRCm39)	E1264V	possibly damaging	Het
Sorcs2	A	G	5: 36,188,556 (GRCm39)	S851P	probably benign	Het
Srcap	A	G	7: 127,129,674 (GRCm39)		probably benign	Het
Tbck	T	C	3: 132,441,864 (GRCm39)	Y557H	probably damaging	Het
Tfap2d	T	C	1: 19,189,110 (GRCm39)	S219P	probably damaging	Het
Trim9	T	C	12: 70,297,995 (GRCm39)	D570G	probably damaging	Het
Usp25	A	G	16: 76,878,541 (GRCm39)	Y655C	probably damaging	Het
Utrn	T	A	10: 12,585,910 (GRCm39)	T956S	probably benign	Het
Vmn1r68	T	A	7: 10,261,799 (GRCm39)	I100F	probably benign	Het
Vps13a	A	T	19: 16,631,734 (GRCm39)	S2634T	probably benign	Het
Zfp472	T	A	17: 33,196,390 (GRCm39)	L155*	probably null	Het
Zfp808	A	G	13: 62,317,381 (GRCm39)	I43M	possibly 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
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
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

Posted On

2016-08-02