Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03338:Sntn'

417098

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sntn

Ensembl Gene

ENSMUSG00000044772

Gene Name

sentan, cilia apical structure protein

Synonyms

A430083B19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.028) question?

Stock #

IGL03338

Quality Score

Status

Chromosome

Chromosomal Location

8786615-8798887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13678991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 55 (D55V)

Ref Sequence

ENSEMBL: ENSMUSP00000062092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061045]

AlphaFold

Q8C9X1

Predicted Effect

probably damaging
Transcript: ENSMUST00000061045
AA Change: D55V

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

SMART Domains

Protein: ENSMUSP00000062092
Gene: ENSMUSG00000044772
AA Change: D55V

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
SCOP:d1psra_	53	133	2e-15	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,744,153 (GRCm39)	V260M	probably damaging	Het
Accsl	T	A	2: 93,686,092 (GRCm39)	H575L	probably benign	Het
Armc3	A	T	2: 19,253,512 (GRCm39)	I218F	possibly damaging	Het
Bora	C	A	14: 99,310,178 (GRCm39)	N502K	probably damaging	Het
Brd4	T	A	17: 32,432,046 (GRCm39)	D606V	probably damaging	Het
Ccdc190	T	A	1: 169,757,544 (GRCm39)	M1K	probably null	Het
Ccl25	T	C	8: 4,399,898 (GRCm39)		probably benign	Het
Cep78	G	T	19: 15,936,987 (GRCm39)	T573K	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cntn4	C	T	6: 106,632,550 (GRCm39)	H525Y	probably damaging	Het
D630039A03Rik	T	C	4: 57,910,509 (GRCm39)	E101G	probably benign	Het
Dnah2	A	G	11: 69,387,403 (GRCm39)	V941A	probably benign	Het
Exoc6b	A	G	6: 84,821,112 (GRCm39)	I559T	probably damaging	Het
Fmr1	T	C	X: 67,731,942 (GRCm39)		probably null	Het
Ghr	A	T	15: 3,377,024 (GRCm39)	C66S	probably damaging	Het
Hook1	C	A	4: 95,886,929 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,876,376 (GRCm39)	T73A	probably benign	Het
Ipo8	T	C	6: 148,701,755 (GRCm39)	K451R	probably benign	Het
Irs1	A	G	1: 82,266,122 (GRCm39)	V698A	probably benign	Het
Kat2a	T	C	11: 100,602,301 (GRCm39)	D151G	probably benign	Het
Lyrm1	A	T	7: 119,513,469 (GRCm39)	Q78L	probably benign	Het
Madd	C	T	2: 90,992,507 (GRCm39)	G1012E	possibly damaging	Het
Mboat1	T	A	13: 30,320,742 (GRCm39)	D31E	probably benign	Het
Myh8	C	A	11: 67,189,172 (GRCm39)	A1116D	probably damaging	Het
Nop2	G	A	6: 125,116,695 (GRCm39)		probably null	Het
Notch1	A	G	2: 26,349,971 (GRCm39)	S2390P	probably benign	Het
Or10ag57	T	G	2: 87,218,470 (GRCm39)	N140K	probably benign	Het
Or52z14	T	A	7: 103,253,615 (GRCm39)	C251*	probably null	Het
Or6c66b	A	G	10: 129,376,925 (GRCm39)	D173G	probably damaging	Het
Pigg	T	C	5: 108,467,816 (GRCm39)	S272P	probably damaging	Het
Plg	A	G	17: 12,637,959 (GRCm39)	Y795C	probably damaging	Het
Polr3e	A	G	7: 120,536,843 (GRCm39)	K335R	probably benign	Het
Pramel13	T	A	4: 144,121,397 (GRCm39)	Y209F	probably benign	Het
Pramel24	T	C	4: 143,453,312 (GRCm39)	I140T	probably benign	Het
Pramel28	T	C	4: 143,692,411 (GRCm39)	I197V	probably benign	Het
Pramel28	T	A	4: 143,692,608 (GRCm39)	Q131L	probably benign	Het
Prdm4	A	T	10: 85,743,685 (GRCm39)	M190K	possibly damaging	Het
Prex2	T	A	1: 11,210,489 (GRCm39)	F597L	probably benign	Het
Ranbp3l	A	G	15: 9,060,940 (GRCm39)	E403G	probably damaging	Het
Rgmb	C	T	17: 16,027,565 (GRCm39)	A385T	possibly damaging	Het
Scn4a	T	A	11: 106,211,671 (GRCm39)	I1449F	probably damaging	Het
Slc17a9	T	C	2: 180,382,311 (GRCm39)		probably benign	Het
Slc26a2	T	C	18: 61,331,974 (GRCm39)	I486V	probably damaging	Het
Snx25	T	A	8: 46,498,247 (GRCm39)	R595S	probably benign	Het
Spag11b	C	T	8: 19,191,426 (GRCm39)	T33I	probably damaging	Het
Sval2	A	G	6: 41,841,181 (GRCm39)	I81M	probably damaging	Het
Tab2	A	G	10: 7,795,039 (GRCm39)	V481A	probably damaging	Het
Zfp867	G	A	11: 59,355,003 (GRCm39)	Q109*	probably null	Het
Zfp935	T	C	13: 62,602,247 (GRCm39)	T318A	probably benign	Het

Other mutations in Sntn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Sntn	APN	14	13,679,086 (GRCm38)	nonsense	probably null
IGL03390:Sntn	APN	14	13,682,205 (GRCm38)	splice site	probably benign
R3902:Sntn	UTSW	14	13,679,084 (GRCm38)	missense	probably damaging	1.00
R4865:Sntn	UTSW	14	13,679,103 (GRCm38)	missense	probably benign
R5494:Sntn	UTSW	14	13,682,214 (GRCm38)	missense	probably benign
R7000:Sntn	UTSW	14	13,679,108 (GRCm38)	missense	probably damaging	0.98
R8185:Sntn	UTSW	14	13,679,014 (GRCm38)	missense	probably benign	0.01
R9443:Sntn	UTSW	14	13,682,364 (GRCm38)	missense

Posted On

2016-08-02