Mutagenetix > Incidental Mutation

Incidental Mutation 'R3790:Syce1l'

272496

Institutional Source

Beutler Lab

Gene Symbol

Syce1l

Ensembl Gene

ENSMUSG00000033409

Gene Name

synaptonemal complex central element protein 1 like

Synonyms

4930481F22Rik, mmrp2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3790 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114369845-114382165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 114369897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 10 (A10E)

Ref Sequence

ENSEMBL: ENSMUSP00000148356 (fasta)

Gene Model

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

AlphaFold

Q5D525

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034219
AA Change: A10E

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034219
Gene: ENSMUSG00000033409
AA Change: A10E

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

possibly damaging
Transcript: ENSMUST00000095173
AA Change: A10E

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092796
Gene: ENSMUSG00000033409
AA Change: A10E

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

possibly damaging
Transcript: ENSMUST00000212269
AA Change: A10E

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213038

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	G	A	17: 13,147,460 (GRCm39)	Q186*	probably null	Het
Alk	A	G	17: 72,910,427 (GRCm39)	L93P	possibly damaging	Het
Ankrd24	C	T	10: 81,478,513 (GRCm39)		probably benign	Het
Anks6	A	T	4: 47,049,212 (GRCm39)	V231E	probably damaging	Het
Ap5z1	C	T	5: 142,456,168 (GRCm39)	S329L	probably benign	Het
Asic4	C	A	1: 75,446,485 (GRCm39)		probably benign	Het
Cemip2	T	G	19: 21,784,816 (GRCm39)	I433S	probably damaging	Het
Cers4	C	A	8: 4,568,285 (GRCm39)	Q113K	possibly damaging	Het
Ces3b	A	T	8: 105,813,520 (GRCm39)	I264F	possibly damaging	Het
Cops3	T	C	11: 59,718,797 (GRCm39)	M166V	probably benign	Het
Corin	T	C	5: 72,592,641 (GRCm39)	Q184R	probably benign	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Drosha	T	A	15: 12,912,623 (GRCm39)	Y1080*	probably null	Het
Gm53	T	C	11: 96,142,477 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,498,745 (GRCm39)	S4045P	probably benign	Het
Kif22	A	G	7: 126,628,668 (GRCm39)	L480P	probably damaging	Het
Lepr	A	T	4: 101,648,111 (GRCm39)		probably benign	Het
Lnpk	A	T	2: 74,352,607 (GRCm39)	S358R	probably benign	Het
Lnx1	A	G	5: 74,789,027 (GRCm39)		probably benign	Het
Lrsam1	T	C	2: 32,848,171 (GRCm39)	E43G	probably null	Het
Mug1	G	A	6: 121,861,587 (GRCm39)	V1350I	probably benign	Het
Nbea	T	A	3: 55,912,450 (GRCm39)	E1112D	probably benign	Het
Nepn	T	A	10: 52,276,626 (GRCm39)	L60I	probably damaging	Het
Oas1e	T	C	5: 120,933,475 (GRCm39)	E30G	probably damaging	Het
Or4c122	A	G	2: 89,079,337 (GRCm39)	F234L	probably benign	Het
Or4k5	A	C	14: 50,386,026 (GRCm39)	F102V	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Prmt8	A	T	6: 127,688,110 (GRCm39)	I236N	probably damaging	Het
Psg23	C	A	7: 18,346,126 (GRCm39)	V190L	probably benign	Het
Psg29	A	G	7: 16,938,950 (GRCm39)	K75E	possibly damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Rgs4	A	G	1: 169,571,991 (GRCm39)	S103P	probably damaging	Het
Sis	T	C	3: 72,828,747 (GRCm39)	Y1144C	probably damaging	Het
Slc16a14	T	C	1: 84,907,001 (GRCm39)		probably benign	Het
Snrnp35	T	A	5: 124,628,248 (GRCm39)	D20E	probably damaging	Het
Tdp1	A	G	12: 99,858,011 (GRCm39)		probably benign	Het
Tmem212	T	C	3: 27,940,594 (GRCm39)		probably null	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	C	A	2: 76,568,471 (GRCm39)	C27474F	probably damaging	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vars1	A	G	17: 35,218,310 (GRCm39)	V48A	probably benign	Het
Vmn2r1	T	C	3: 63,994,185 (GRCm39)		probably null	Het
Washc2	A	G	6: 116,224,933 (GRCm39)		probably benign	Het
Zfp943	A	G	17: 22,211,403 (GRCm39)	D163G	possibly damaging	Het
Zmym5	T	C	14: 57,031,230 (GRCm39)	Y626C	probably damaging	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
R2307:Syce1l	UTSW	8	114,369,937 (GRCm39)	critical splice donor site	probably null
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
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'- TTATAGAGACTCGGCCCTGTGG -3'
(R):5'- AGGTGATGAGTACACGCATG -3'

Sequencing Primer
(F):5'- ACGCAAGCTAGCAGTTGCATTTG -3'
(R):5'- TAATGAGCCGAAGCCTCT -3'

Posted On

2015-03-25