Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03003:Syce1l'

407462

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03003

Quality Score

Status

Chromosome

Chromosomal Location

114369845-114382165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114380699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 137 (D137G)

Ref Sequence

ENSEMBL: ENSMUSP00000092796 (fasta)

Gene Model

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

AlphaFold

Q5D525

Predicted Effect

silent
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 damaging
Transcript: ENSMUST00000095173
AA Change: D137G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092796
Gene: ENSMUSG00000033409
AA Change: D137G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212017

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212269
AA Change: D116G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,671,509 (GRCm39)	P577L	probably damaging	Het
Aff3	A	T	1: 38,248,651 (GRCm39)	S819T	probably damaging	Het
Aftph	G	T	11: 20,676,982 (GRCm39)	S209*	probably null	Het
Astn1	T	A	1: 158,439,965 (GRCm39)	D844E	probably benign	Het
Cc2d2a	A	G	5: 43,828,608 (GRCm39)	K29E	probably benign	Het
Ccdc93	T	C	1: 121,390,846 (GRCm39)	S273P	possibly damaging	Het
Cd200r3	C	A	16: 44,764,139 (GRCm39)	H2N	probably benign	Het
Cd200r3	G	T	16: 44,764,138 (GRCm39)	M1I	probably null	Het
Col7a1	G	A	9: 108,804,024 (GRCm39)		probably null	Het
Cyp3a41a	T	A	5: 145,642,640 (GRCm39)	M240L	probably benign	Het
Dcstamp	T	C	15: 39,617,906 (GRCm39)	V105A	possibly damaging	Het
Dmbt1	C	A	7: 130,684,409 (GRCm39)	P635Q	probably benign	Het
Dsg1a	T	A	18: 20,469,876 (GRCm39)	M634K	probably benign	Het
Farp2	T	C	1: 93,495,140 (GRCm39)	Y138H	probably damaging	Het
Fga	T	C	3: 82,940,037 (GRCm39)	S564P	probably damaging	Het
Gbf1	T	C	19: 46,244,094 (GRCm39)	L142S	probably damaging	Het
Gm5422	T	C	10: 31,126,840 (GRCm39)		noncoding transcript	Het
Helz2	A	G	2: 180,882,046 (GRCm39)	V249A	probably damaging	Het
Hmcn2	C	A	2: 31,323,498 (GRCm39)	T4204K	probably damaging	Het
Ift81	T	C	5: 122,732,725 (GRCm39)	I270V	probably benign	Het
Katnip	A	T	7: 125,451,132 (GRCm39)	I1088F	probably damaging	Het
Kif6	C	T	17: 50,060,899 (GRCm39)	R411*	probably null	Het
Klhl35	T	A	7: 99,119,550 (GRCm39)	V345D	probably damaging	Het
Mcm3ap	C	A	10: 76,340,531 (GRCm39)	D1531E	probably benign	Het
Muc5b	C	A	7: 141,417,351 (GRCm39)	D3432E	probably benign	Het
Nipbl	A	T	15: 8,379,798 (GRCm39)	V998D	probably damaging	Het
Nlrc3	C	A	16: 3,782,726 (GRCm39)	V228L	probably benign	Het
Nrap	T	C	19: 56,310,384 (GRCm39)	H1456R	probably damaging	Het
Nt5c1b	C	T	12: 10,424,910 (GRCm39)	A210V	possibly damaging	Het
Or13a18	A	G	7: 140,190,283 (GRCm39)	Y60C	probably damaging	Het
Or1l4b	T	C	2: 37,036,464 (GRCm39)	V80A	probably benign	Het
Osbpl7	T	C	11: 96,941,521 (GRCm39)	Y15H	probably benign	Het
Pde8b	T	A	13: 95,178,465 (GRCm39)	N552Y	probably damaging	Het
Pi4kb	T	A	3: 94,892,123 (GRCm39)	S280T	probably benign	Het
Pkd1	T	A	17: 24,812,577 (GRCm39)		probably null	Het
Polh	A	T	17: 46,505,292 (GRCm39)	V108E	possibly damaging	Het
Prob1	A	G	18: 35,786,428 (GRCm39)	S609P	possibly damaging	Het
Ptprz1	T	A	6: 23,002,582 (GRCm39)	N1557K	probably damaging	Het
Rev1	A	C	1: 38,127,154 (GRCm39)	F369V	possibly damaging	Het
Rgma	A	G	7: 73,067,188 (GRCm39)	N148D	probably damaging	Het
Robo3	A	G	9: 37,330,587 (GRCm39)	L1003S	probably damaging	Het
Sdhb	T	C	4: 140,700,311 (GRCm39)	V137A	probably damaging	Het
Sema6c	T	C	3: 95,076,925 (GRCm39)	L337P	probably damaging	Het
Shc4	A	T	2: 125,565,253 (GRCm39)	Y15*	probably null	Het
Slc4a9	T	C	18: 36,669,946 (GRCm39)	S722P	probably damaging	Het
Smarcc1	A	G	9: 110,035,168 (GRCm39)	N864D	probably damaging	Het
Sspo	T	C	6: 48,432,021 (GRCm39)	L745P	probably damaging	Het
Tbc1d1	G	T	5: 64,473,781 (GRCm39)	W768L	probably damaging	Het
Tmbim7	A	G	5: 3,711,887 (GRCm39)	D7G	probably benign	Het
Tmem109	A	C	19: 10,851,695 (GRCm39)	S64A	probably benign	Het
Tnfrsf21	A	G	17: 43,350,834 (GRCm39)	R333G	probably damaging	Het
Ttn	T	G	2: 76,611,955 (GRCm39)	S17316R	probably damaging	Het
Usp10	A	G	8: 120,681,549 (GRCm39)	T668A	possibly damaging	Het
Xirp2	T	A	2: 67,345,906 (GRCm39)	F2716I	possibly 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
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
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

Posted On

2016-08-02