Mutagenetix > Incidental Mutation

Incidental Mutation 'R5494:Sntn'

501121

Institutional Source

Beutler Lab

Gene Symbol

Sntn

Ensembl Gene

ENSMUSG00000044772

Gene Name

sentan, cilia apical structure protein

Synonyms

A430083B19Rik

MMRRC Submission

043055-MU

Accession Numbers

Essential gene?

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

Stock #

R5494 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8786615-8798887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13682214 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 96 (R96G)

Ref Sequence

ENSEMBL: ENSMUSP00000062092 (fasta)

Gene Model

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

AlphaFold

Q8C9X1

Predicted Effect

probably benign
Transcript: ENSMUST00000061045
AA Change: R96G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062092
Gene: ENSMUSG00000044772
AA Change: R96G

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

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.3%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	A	G	10: 41,223,165 (GRCm39)	E436G	probably damaging	Het
Aldh18a1	C	T	19: 40,539,734 (GRCm39)	R747Q	probably damaging	Het
Apob	A	G	12: 8,061,762 (GRCm39)	N3415D	probably damaging	Het
Asb18	T	C	1: 89,882,121 (GRCm39)	E139G	probably damaging	Het
Atrn	T	C	2: 130,864,995 (GRCm39)	L1374P	probably damaging	Het
Ccdc81	A	G	7: 89,526,781 (GRCm39)	S410P	probably damaging	Het
Cep112	A	G	11: 108,555,431 (GRCm39)	E809G	probably damaging	Het
Dctn1	G	T	6: 83,159,546 (GRCm39)	R8L	possibly damaging	Het
Ddn	C	A	15: 98,704,884 (GRCm39)	R82L	probably damaging	Het
Dgkz	A	T	2: 91,771,394 (GRCm39)		probably null	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Frem1	T	C	4: 82,858,990 (GRCm39)	*415W	probably null	Het
Fry	A	T	5: 150,314,132 (GRCm39)	D789V	probably damaging	Het
Fzr1	C	T	10: 81,207,178 (GRCm39)		probably null	Het
Gemin5	T	A	11: 58,021,526 (GRCm39)	Y1025F	probably damaging	Het
Gjb5	C	T	4: 127,249,347 (GRCm39)	V266M	probably damaging	Het
Gli3	A	T	13: 15,900,567 (GRCm39)	Q1318L	probably benign	Het
Golgb1	T	A	16: 36,749,045 (GRCm39)	N3056K	possibly damaging	Het
Gucy1b1	T	A	3: 81,947,183 (GRCm39)	D342V	probably damaging	Het
H1f9	T	C	11: 94,858,843 (GRCm39)	L46S	probably benign	Het
Hc	A	T	2: 34,893,551 (GRCm39)		probably null	Het
Heg1	A	G	16: 33,545,804 (GRCm39)	D185G	probably benign	Het
Igf2r	A	T	17: 12,912,032 (GRCm39)	M1865K	possibly damaging	Het
Il27	A	G	7: 126,192,100 (GRCm39)	L12P	probably damaging	Het
Krt1	C	T	15: 101,759,149 (GRCm39)	C5Y	unknown	Het
Med25	C	T	7: 44,535,225 (GRCm39)	V170M	probably damaging	Het
Mgat4a	T	A	1: 37,493,898 (GRCm39)	Y316F	probably damaging	Het
Oas3	A	G	5: 120,899,709 (GRCm39)	V725A	unknown	Het
Or52ac1	C	A	7: 104,245,932 (GRCm39)	G152V	probably damaging	Het
Or5w16	T	C	2: 87,576,950 (GRCm39)	S137P	probably damaging	Het
Pcdhb17	T	C	18: 37,620,300 (GRCm39)	S697P	probably damaging	Het
Plch2	T	C	4: 155,075,579 (GRCm39)	Y751C	probably damaging	Het
Rbms2	G	T	10: 127,973,560 (GRCm39)	T252N	probably damaging	Het
Rbpjl	GCC	GC	2: 164,256,330 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Scfd1	A	G	12: 51,443,522 (GRCm39)		probably null	Het
Shank3	C	T	15: 89,432,441 (GRCm39)	T1062M	probably damaging	Het
Slc28a1	G	A	7: 80,817,787 (GRCm39)	G552E	probably damaging	Het
Tas2r102	T	C	6: 132,740,106 (GRCm39)	V338A	probably benign	Het
Trim62	A	T	4: 128,778,999 (GRCm39)	N145Y	possibly damaging	Het
Tspoap1	C	T	11: 87,666,031 (GRCm39)	T863I	possibly damaging	Het
Ubr5	C	T	15: 38,019,525 (GRCm39)	C739Y	possibly damaging	Het
Vps13c	G	A	9: 67,855,428 (GRCm39)	V2498I	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	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
IGL03338:Sntn	APN	14	13,678,991 (GRCm38)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCACAGCTCAGGTATAATGGAAG -3'
(R):5'- GAGTTGCAGTCCCACACTTATTAC -3'

Sequencing Primer
(F):5'- TGGAAGTACCAGGAAGATCAGTG -3'
(R):5'- GGCACATCATTTGTCCATCACATG -3'

Posted On

2017-12-01