Mutagenetix > Incidental Mutation

Incidental Mutation 'R2307:Syce1l'

244640

Institutional Source

Beutler Lab

Gene Symbol

Syce1l

Ensembl Gene

ENSMUSG00000033409

Gene Name

synaptonemal complex central element protein 1 like

Synonyms

4930481F22Rik, mmrp2

MMRRC Submission

040306-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2307 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114369845-114382165 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 114369937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034219] [ENSMUST00000035777] [ENSMUST00000095173] [ENSMUST00000179926] [ENSMUST00000212269]

AlphaFold

Q5D525

Predicted Effect

probably null
Transcript: ENSMUST00000034219

SMART Domains

Protein: ENSMUSP00000034219
Gene: ENSMUSG00000033409

Domain	Start	End	E-Value	Type
Pfam:SYCE1	45	135	4.4e-39	PFAM
low complexity region	139	154	N/A	INTRINSIC
low complexity region	196	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035777

SMART Domains

Protein: ENSMUSP00000045089
Gene: ENSMUSG00000078908

Domain	Start	End	E-Value	Type
Pfam:Mon1	105	533	5.5e-172	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000095173

SMART Domains

Protein: ENSMUSP00000092796
Gene: ENSMUSG00000033409

Domain	Start	End	E-Value	Type
Pfam:SYCE1	45	172	8.3e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179926

SMART Domains

Protein: ENSMUSP00000137605
Gene: ENSMUSG00000078908

Domain	Start	End	E-Value	Type
Pfam:Mon1	110	532	3.3e-126	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212017

Predicted Effect

probably null
Transcript: ENSMUST00000212269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213038

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	C	12: 84,122,375 (GRCm39)	F320L	possibly damaging	Het
Alox12e	T	C	11: 70,212,087 (GRCm39)	K170R	probably damaging	Het
Ano2	T	C	6: 125,969,849 (GRCm39)	S722P	probably benign	Het
Cep192	A	G	18: 67,946,970 (GRCm39)	Y215C	probably benign	Het
Ces2g	A	G	8: 105,695,044 (GRCm39)	N555S	probably benign	Het
Cfap58	C	T	19: 47,950,925 (GRCm39)	Q429*	probably null	Het
Clcnkb	A	G	4: 141,139,640 (GRCm39)	S121P	probably damaging	Het
Cltb	T	A	13: 54,746,564 (GRCm39)	E67D	probably damaging	Het
Ddhd1	A	T	14: 45,846,447 (GRCm39)	L581Q	probably damaging	Het
Dnajc3	T	C	14: 119,190,633 (GRCm39)		probably null	Het
Fgf14	T	A	14: 124,221,234 (GRCm39)	N190I	probably damaging	Het
Galnt17	T	G	5: 130,929,460 (GRCm39)	Y449S	probably damaging	Het
Grin3a	C	T	4: 49,793,033 (GRCm39)		probably null	Het
Gxylt2	A	G	6: 100,764,173 (GRCm39)	N286S	probably damaging	Het
H2-K2	A	G	17: 34,216,113 (GRCm39)	V120A	probably benign	Het
Inpp5f	T	C	7: 128,296,034 (GRCm39)	V168A	probably damaging	Het
Kif1a	G	T	1: 93,006,491 (GRCm39)	H59N	probably damaging	Het
Krt24	T	C	11: 99,175,456 (GRCm39)	Q193R	possibly damaging	Het
Krtap5-4	C	A	7: 141,857,351 (GRCm39)	S7*	probably null	Het
Ltn1	A	G	16: 87,229,312 (GRCm39)		probably null	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mep1b	A	T	18: 21,221,632 (GRCm39)	D194V	probably damaging	Het
Mettl25b	A	T	3: 87,834,162 (GRCm39)	M171K	possibly damaging	Het
Orc3	C	T	4: 34,586,503 (GRCm39)	V382M	probably damaging	Het
Pclo	T	A	5: 14,728,665 (GRCm39)		probably benign	Het
Pcolce	T	C	5: 137,607,356 (GRCm39)	H45R	probably damaging	Het
Prf1	T	C	10: 61,138,942 (GRCm39)	V300A	possibly damaging	Het
Prorp	T	C	12: 55,351,101 (GRCm39)	F137L	probably damaging	Het
Prss53	T	C	7: 127,490,037 (GRCm39)	I18V	probably benign	Het
Rnase2b	A	G	14: 51,400,188 (GRCm39)	T90A	probably benign	Het
Rpap1	G	A	2: 119,614,247 (GRCm39)	P50L	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec16b	G	A	1: 157,363,062 (GRCm39)	V298I	probably damaging	Het
Smarcd3	C	T	5: 24,800,746 (GRCm39)	R156Q	probably damaging	Het
St6galnac2	C	T	11: 116,572,731 (GRCm39)	A242T	probably damaging	Het
Tcam1	T	C	11: 106,174,940 (GRCm39)	C132R	probably damaging	Het
Trpa1	T	C	1: 14,982,605 (GRCm39)	I84V	probably benign	Het
Ttn	G	A	2: 76,717,342 (GRCm39)	R455*	probably null	Het
Ubl5	T	A	9: 20,557,876 (GRCm39)		probably benign	Het
Ubr2	T	A	17: 47,277,141 (GRCm39)	K779*	probably null	Het
Ugt1a10	A	G	1: 87,983,669 (GRCm39)	I156V	probably benign	Het
Unc13b	A	G	4: 43,239,854 (GRCm39)	T3513A	probably damaging	Het
Vmn1r20	C	T	6: 57,409,121 (GRCm39)	T149I	probably benign	Het
Zfp804a	T	A	2: 82,087,201 (GRCm39)	D343E	probably benign	Het

Other mutations in Syce1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Syce1l	APN	8	114,376,134 (GRCm39)	missense	probably damaging	0.99
IGL00783:Syce1l	APN	8	114,379,494 (GRCm39)	missense	probably benign	0.23
IGL00784:Syce1l	APN	8	114,379,494 (GRCm39)	missense	probably benign	0.23
IGL02748:Syce1l	APN	8	114,382,097 (GRCm39)	utr 3 prime	probably benign
IGL03003:Syce1l	APN	8	114,380,699 (GRCm39)	missense	probably damaging	0.99
R0101:Syce1l	UTSW	8	114,382,061 (GRCm39)	missense	probably benign	0.41
R0486:Syce1l	UTSW	8	114,381,395 (GRCm39)	critical splice acceptor site	probably null
R0492:Syce1l	UTSW	8	114,380,700 (GRCm39)	missense	possibly damaging	0.86
R1709:Syce1l	UTSW	8	114,380,662 (GRCm39)	critical splice acceptor site	probably null
R1783:Syce1l	UTSW	8	114,381,466 (GRCm39)	missense	possibly damaging	0.66
R3110:Syce1l	UTSW	8	114,381,579 (GRCm39)	missense	probably benign
R3111:Syce1l	UTSW	8	114,381,579 (GRCm39)	missense	probably benign
R3112:Syce1l	UTSW	8	114,381,579 (GRCm39)	missense	probably benign
R3790:Syce1l	UTSW	8	114,369,897 (GRCm39)	missense	possibly damaging	0.63
R5112:Syce1l	UTSW	8	114,378,274 (GRCm39)	missense	probably damaging	0.99
R5398:Syce1l	UTSW	8	114,379,145 (GRCm39)	missense	probably damaging	1.00
R6373:Syce1l	UTSW	8	114,376,143 (GRCm39)	missense	probably benign
R7407:Syce1l	UTSW	8	114,381,770 (GRCm39)	nonsense	probably null
R8296:Syce1l	UTSW	8	114,380,721 (GRCm39)	missense	possibly damaging	0.78
R9262:Syce1l	UTSW	8	114,380,738 (GRCm39)	critical splice donor site	probably null
R9475:Syce1l	UTSW	8	114,381,735 (GRCm39)	missense	probably benign
R9600:Syce1l	UTSW	8	114,381,750 (GRCm39)	missense	unknown
Z1176:Syce1l	UTSW	8	114,382,049 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TGTTCTGCGCTTGCTCCAAG -3'
(R):5'- AGTAATGGGTCTTGAACTACTTGC -3'

Sequencing Primer
(F):5'- GCTCCAAGCAGACACCTGTG -3'
(R):5'- ATGGGTCTTGAACTACTTGCTTAAG -3'

Posted On

2014-10-30