Mutagenetix > Incidental Mutation

Incidental Mutation 'R3112:Sppl3'

263729

Institutional Source

Beutler Lab

Gene Symbol

Sppl3

Ensembl Gene

ENSMUSG00000029550

Gene Name

signal peptide peptidase 3

Synonyms

Usmg3, 4833416I09Rik

MMRRC Submission

040585-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R3112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115011137-115098790 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115074864 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 51 (S51C)

Ref Sequence

ENSEMBL: ENSMUSP00000031530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031530] [ENSMUST00000128590]

AlphaFold

Q9CUS9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031530
AA Change: S51C

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031530
Gene: ENSMUSG00000029550
AA Change: S51C

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
PSN	64	361	1.96e-102	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201970

Meta Mutation Damage Score

0.0699

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap insertion exhibit growth retardation, decreased fertility and behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054 (GRCm38)	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829 (GRCm38)	K1554*	probably null	Het
Acads	T	C	5: 115,117,698 (GRCm38)	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406 (GRCm38)	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457 (GRCm38)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505 (GRCm38)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972 (GRCm38)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694 (GRCm38)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551 (GRCm38)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093 (GRCm38)	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486 (GRCm38)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm38)	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698 (GRCm38)		probably null	Het
Cpb1	C	T	3: 20,265,357 (GRCm38)	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922 (GRCm38)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972 (GRCm38)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666 (GRCm38)	D90E	probably damaging	Het
Fam135b	T	C	15: 71,464,030 (GRCm38)	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231 (GRCm38)	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635 (GRCm38)	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221 (GRCm38)	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146 (GRCm38)	Y32C	probably damaging	Het
Gpat4	G	A	8: 23,180,155 (GRCm38)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273 (GRCm38)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347 (GRCm38)		probably null	Het
Grn	A	G	11: 102,433,243 (GRCm38)	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846 (GRCm38)		probably benign	Het
Hmgxb3	T	C	18: 61,147,382 (GRCm38)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911 (GRCm38)	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669 (GRCm38)	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571 (GRCm38)	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276 (GRCm38)	N661K	probably damaging	Het
Lipe	T	C	7: 25,398,423 (GRCm38)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695 (GRCm38)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263 (GRCm38)	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006 (GRCm38)	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996 (GRCm38)	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488 (GRCm38)		probably benign	Het
Mybl1	T	C	1: 9,681,870 (GRCm38)	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685 (GRCm38)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872 (GRCm38)	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497 (GRCm38)	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224 (GRCm38)	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676 (GRCm38)	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919 (GRCm38)	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918 (GRCm38)	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560 (GRCm38)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129 (GRCm38)	I300F	probably damaging	Het
Pfkfb4	C	T	9: 109,025,042 (GRCm38)		probably benign	Het
Phactr3	T	A	2: 178,279,017 (GRCm38)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm38)	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531 (GRCm38)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147 (GRCm38)		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832 (GRCm38)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856 (GRCm38)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800 (GRCm38)		probably benign	Het
Psg23	T	C	7: 18,610,444 (GRCm38)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131 (GRCm38)	L15P	probably damaging	Het
Scrib	A	T	15: 76,069,374 (GRCm38)	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682 (GRCm38)	Q2005*	probably null	Het
Sspo	A	G	6: 48,457,600 (GRCm38)	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947 (GRCm38)	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484 (GRCm38)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024 (GRCm38)	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768 (GRCm38)	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286 (GRCm38)	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638 (GRCm38)	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834 (GRCm38)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499 (GRCm38)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848 (GRCm38)		probably null	Het
Wee1	T	A	7: 110,130,836 (GRCm38)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564 (GRCm38)	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226 (GRCm38)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162 (GRCm38)	I283L	possibly damaging	Het

Other mutations in Sppl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Sppl3	APN	5	115,074,876 (GRCm38)	missense	probably benign
IGL02302:Sppl3	APN	5	115,082,331 (GRCm38)	missense	probably benign	0.43
IGL02381:Sppl3	APN	5	115,074,910 (GRCm38)	splice site	probably null
IGL02592:Sppl3	APN	5	115,095,911 (GRCm38)	missense	probably damaging	1.00
IGL02963:Sppl3	APN	5	115,061,603 (GRCm38)	missense	probably damaging	1.00
R0119:Sppl3	UTSW	5	115,088,994 (GRCm38)	unclassified	probably benign
R0299:Sppl3	UTSW	5	115,088,994 (GRCm38)	unclassified	probably benign
R0827:Sppl3	UTSW	5	115,082,333 (GRCm38)	nonsense	probably null
R1141:Sppl3	UTSW	5	115,088,293 (GRCm38)	frame shift	probably null
R1321:Sppl3	UTSW	5	115,088,293 (GRCm38)	frame shift	probably null
R1322:Sppl3	UTSW	5	115,088,293 (GRCm38)	frame shift	probably null
R1451:Sppl3	UTSW	5	115,088,365 (GRCm38)	missense	probably damaging	1.00
R3110:Sppl3	UTSW	5	115,074,864 (GRCm38)	missense	possibly damaging	0.78
R4701:Sppl3	UTSW	5	115,103,313 (GRCm38)	splice site	probably null
R4808:Sppl3	UTSW	5	115,083,426 (GRCm38)	splice site	probably benign
R4931:Sppl3	UTSW	5	115,082,314 (GRCm38)	missense	probably damaging	1.00
R6513:Sppl3	UTSW	5	115,095,936 (GRCm38)	missense	probably damaging	1.00
R6993:Sppl3	UTSW	5	115,082,290 (GRCm38)	missense	probably damaging	0.99
R7326:Sppl3	UTSW	5	115,082,335 (GRCm38)	missense	probably damaging	0.99
R7384:Sppl3	UTSW	5	115,061,641 (GRCm38)	critical splice donor site	probably null
R9012:Sppl3	UTSW	5	115,088,928 (GRCm38)	missense	probably benign	0.38
R9257:Sppl3	UTSW	5	115,083,473 (GRCm38)	missense	probably benign	0.41
R9258:Sppl3	UTSW	5	115,095,863 (GRCm38)	missense	probably damaging	1.00
R9306:Sppl3	UTSW	5	115,074,863 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCTCTGGAACTACTGGGG -3'
(R):5'- CGGACTGCATTGTTCTATCAAATG -3'

Sequencing Primer
(F):5'- GGTCGTAGGCTGTGTCAC -3'
(R):5'- TATCAAATGTAAGCCCTGAGCCTGG -3'

Posted On

2015-02-05