Mutagenetix > Incidental Mutation

Incidental Mutation 'R7035:Sycp2l'

546627

Institutional Source

Beutler Lab

Gene Symbol

Sycp2l

Ensembl Gene

ENSMUSG00000038651

Gene Name

synaptonemal complex protein 2-like

Synonyms

Gm40956, LOC218175, EG621792

MMRRC Submission

045136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R7035 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41267895-41327827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41310973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 645 (T645I)

Ref Sequence

ENSEMBL: ENSMUSP00000115127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124093]

AlphaFold

A0A0M3U1B0

Predicted Effect

unknown
Transcript: ENSMUST00000124093
AA Change: T645I

Predicted Effect

probably benign
Transcript: ENSMUST00000141292

SMART Domains

Protein: ENSMUSP00000121296
Gene: ENSMUSG00000038651

Domain	Start	End	E-Value	Type
low complexity region	69	83	N/A	INTRINSIC
low complexity region	171	182	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

PHENOTYPE: Female mice homozygous for a knock-out allele exhibit early reproductive senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,777,272 (GRCm39)	F78I	probably benign	Het
1700102P08Rik	A	T	9: 108,272,510 (GRCm39)	D140V	possibly damaging	Het
6430548M08Rik	A	T	8: 120,879,225 (GRCm39)	S208C	probably damaging	Het
Abcd4	G	T	12: 84,662,123 (GRCm39)	T41K	probably damaging	Het
Acaca	C	T	11: 84,129,769 (GRCm39)	R375C	probably damaging	Het
Acad11	T	A	9: 103,990,694 (GRCm39)	V433D	probably damaging	Het
Adal	T	A	2: 120,985,942 (GRCm39)	C226S	probably benign	Het
Aldh3b2	A	T	19: 4,028,142 (GRCm39)	M95L	probably benign	Het
Ano4	A	G	10: 88,790,573 (GRCm39)	F842S	probably damaging	Het
Ap5s1	T	C	2: 131,054,732 (GRCm39)	F181S	probably damaging	Het
Apba1	G	A	19: 23,894,931 (GRCm39)	D456N	possibly damaging	Het
Armh4	T	A	14: 50,010,507 (GRCm39)	H400L	possibly damaging	Het
Atp6v0a1	A	C	11: 100,918,183 (GRCm39)	Q199H	probably damaging	Het
Atp8a1	C	G	5: 67,938,373 (GRCm39)	G161A	probably benign	Het
Atxn2	C	T	5: 121,949,530 (GRCm39)	Q61*	probably null	Het
Cacna2d1	T	A	5: 16,451,670 (GRCm39)	I178K	probably damaging	Het
Catsperb	A	C	12: 101,381,593 (GRCm39)	T92P	probably damaging	Het
Ccdc175	A	G	12: 72,202,419 (GRCm39)	I292T	probably benign	Het
Cep290	T	A	10: 100,334,933 (GRCm39)	S318T	probably benign	Het
Cfb	T	A	17: 35,079,007 (GRCm39)	Y826F	possibly damaging	Het
Cntn1	C	A	15: 92,212,392 (GRCm39)	D851E	probably benign	Het
Coq6	A	G	12: 84,415,415 (GRCm39)	D146G	probably damaging	Het
Crem	G	A	18: 3,327,503 (GRCm39)	T12I	probably damaging	Het
Dennd4c	G	A	4: 86,730,574 (GRCm39)	V824I	probably damaging	Het
Dnase2b	C	T	3: 146,288,096 (GRCm39)	C333Y	probably damaging	Het
Dop1a	T	A	9: 86,406,355 (GRCm39)	F365I	possibly damaging	Het
Dysf	A	T	6: 84,163,374 (GRCm39)	I1570F	probably benign	Het
Eml1	T	A	12: 108,475,493 (GRCm39)	C275S	probably damaging	Het
Fam135b	A	C	15: 71,334,102 (GRCm39)	S1031A	possibly damaging	Het
Gga2	T	C	7: 121,588,939 (GRCm39)	D596G	probably damaging	Het
Gin1	A	C	1: 97,720,100 (GRCm39)	Y365S	possibly damaging	Het
Gipr	T	A	7: 18,896,809 (GRCm39)	I154F	probably damaging	Het
Gm5478	A	T	15: 101,553,632 (GRCm39)	I284N	possibly damaging	Het
Gnat1	A	T	9: 107,553,827 (GRCm39)		probably benign	Het
Gsdmc	A	T	15: 63,650,569 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,088,044 (GRCm39)	I1554N		Het
Mycbp2	T	A	14: 103,412,417 (GRCm39)	T2519S	probably benign	Het
Mylk	G	A	16: 34,797,352 (GRCm39)	V1604M	possibly damaging	Het
Mypop	C	T	7: 18,725,922 (GRCm39)		probably benign	Het
Nol6	A	T	4: 41,118,479 (GRCm39)	V774E	probably benign	Het
Nol8	T	C	13: 49,814,678 (GRCm39)	V262A	probably benign	Het
Npepps	A	T	11: 97,113,965 (GRCm39)	V637D	probably damaging	Het
Or1e16	T	C	11: 73,286,544 (GRCm39)	I101M	probably benign	Het
Or4f52	A	G	2: 111,061,784 (GRCm39)	M118T	probably damaging	Het
Or5p52	T	C	7: 107,502,140 (GRCm39)	V72A	probably benign	Het
Pcdhgb8	A	T	18: 37,896,201 (GRCm39)	I424F	possibly damaging	Het
Phf7	A	C	14: 30,961,183 (GRCm39)	W231G	probably damaging	Het
Plagl1	A	G	10: 13,003,977 (GRCm39)		probably benign	Het
Plat	A	T	8: 23,262,327 (GRCm39)	D117V	probably benign	Het
Prkag2	T	C	5: 25,152,564 (GRCm39)	Y180C	probably damaging	Het
Prpf8	T	C	11: 75,395,654 (GRCm39)	I1927T	possibly damaging	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Rad17	T	A	13: 100,764,133 (GRCm39)	D446V	possibly damaging	Het
Ralgapa2	G	T	2: 146,353,777 (GRCm39)	Q15K	probably damaging	Het
Ret	A	G	6: 118,140,247 (GRCm39)	Y982H	probably damaging	Het
Rnf145	T	A	11: 44,452,583 (GRCm39)	S521T	probably damaging	Het
Samd4	G	A	14: 47,326,620 (GRCm39)		silent	Het
Sardh	T	C	2: 27,120,854 (GRCm39)	D390G	probably damaging	Het
Saxo1	T	C	4: 86,363,359 (GRCm39)	T375A	probably damaging	Het
Scly	A	G	1: 91,236,125 (GRCm39)	T126A	probably damaging	Het
Slc6a16	T	A	7: 44,910,251 (GRCm39)	V307D	probably damaging	Het
Sned1	T	C	1: 93,189,852 (GRCm39)	C320R	probably damaging	Het
Sspo	G	A	6: 48,426,147 (GRCm39)		probably null	Het
Tpmt	T	C	13: 47,193,584 (GRCm39)	K72E	probably damaging	Het
Tsbp1	C	T	17: 34,679,305 (GRCm39)		probably benign	Het
Ube2q2l	G	A	6: 136,378,347 (GRCm39)	T161M	possibly damaging	Het
Vmn1r51	A	T	6: 90,106,207 (GRCm39)	H41L	probably benign	Het
Wdfy3	A	T	5: 102,003,415 (GRCm39)	I2900N	probably damaging	Het
Zfp663	A	G	2: 165,195,023 (GRCm39)	S399P	probably benign	Het
Zfp692	T	C	11: 58,200,268 (GRCm39)		probably null	Het

Other mutations in Sycp2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4531001:Sycp2l	UTSW	13	41,300,148 (GRCm39)	missense	probably null	0.00
R0016:Sycp2l	UTSW	13	41,310,976 (GRCm39)	intron	probably benign
R0024:Sycp2l	UTSW	13	41,295,264 (GRCm39)	missense	probably damaging	1.00
R0024:Sycp2l	UTSW	13	41,295,264 (GRCm39)	missense	probably damaging	1.00
R0099:Sycp2l	UTSW	13	41,283,001 (GRCm39)	splice site	probably benign
R0471:Sycp2l	UTSW	13	41,304,006 (GRCm39)	splice site	probably null
R0582:Sycp2l	UTSW	13	41,291,431 (GRCm39)	splice site	probably benign
R0605:Sycp2l	UTSW	13	41,296,942 (GRCm39)	missense	probably benign	0.22
R1311:Sycp2l	UTSW	13	41,288,661 (GRCm39)	nonsense	probably null
R1999:Sycp2l	UTSW	13	41,271,780 (GRCm39)	missense	probably benign	0.11
R3115:Sycp2l	UTSW	13	41,302,274 (GRCm39)	missense	probably benign	0.41
R3977:Sycp2l	UTSW	13	41,295,440 (GRCm39)	missense	probably damaging	0.99
R3979:Sycp2l	UTSW	13	41,295,440 (GRCm39)	missense	probably damaging	0.99
R4643:Sycp2l	UTSW	13	41,296,941 (GRCm39)	missense	probably benign	0.01
R5027:Sycp2l	UTSW	13	41,283,247 (GRCm39)	critical splice acceptor site	probably null
R5037:Sycp2l	UTSW	13	41,283,337 (GRCm39)	missense	possibly damaging	0.89
R5780:Sycp2l	UTSW	13	41,282,976 (GRCm39)	missense	possibly damaging	0.61
R6216:Sycp2l	UTSW	13	41,295,200 (GRCm39)	missense	probably damaging	1.00
R7179:Sycp2l	UTSW	13	41,283,258 (GRCm39)	missense	probably damaging	1.00
R7267:Sycp2l	UTSW	13	41,300,070 (GRCm39)	missense	possibly damaging	0.69
R7470:Sycp2l	UTSW	13	41,316,580 (GRCm39)	missense	probably benign	0.01
R7593:Sycp2l	UTSW	13	41,326,192 (GRCm39)	missense	probably damaging	1.00
R8030:Sycp2l	UTSW	13	41,326,146 (GRCm39)	missense	not run
R8218:Sycp2l	UTSW	13	41,271,544 (GRCm39)	missense	probably damaging	1.00
R8303:Sycp2l	UTSW	13	41,283,275 (GRCm39)	missense	probably damaging	1.00
R8503:Sycp2l	UTSW	13	41,306,952 (GRCm39)	missense
R8504:Sycp2l	UTSW	13	41,291,390 (GRCm39)	missense	probably damaging	1.00
R8942:Sycp2l	UTSW	13	41,277,522 (GRCm39)	critical splice donor site	probably null
R9096:Sycp2l	UTSW	13	41,300,070 (GRCm39)	missense	possibly damaging	0.69
R9097:Sycp2l	UTSW	13	41,300,070 (GRCm39)	missense	possibly damaging	0.69
R9653:Sycp2l	UTSW	13	41,295,381 (GRCm39)	missense	probably benign	0.01
R9689:Sycp2l	UTSW	13	41,295,256 (GRCm39)	missense	probably damaging	1.00
R9713:Sycp2l	UTSW	13	41,326,183 (GRCm39)	missense	probably damaging	0.99
R9729:Sycp2l	UTSW	13	41,326,132 (GRCm39)	missense
R9763:Sycp2l	UTSW	13	41,306,232 (GRCm39)	missense
Z1177:Sycp2l	UTSW	13	41,300,058 (GRCm39)	missense	possibly damaging	0.84
Z1177:Sycp2l	UTSW	13	41,267,840 (GRCm39)	unclassified	probably benign

Predicted Primers

Posted On

2019-05-13