Mutagenetix > Incidental Mutation

Incidental Mutation 'R9589:Secisbp2l'

722919

Institutional Source

Beutler Lab

Gene Symbol

Secisbp2l

Ensembl Gene

ENSMUSG00000035093

Gene Name

SECIS binding protein 2-like

Synonyms

3110001I20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.769) question?

Stock #

R9589 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125578906-125624790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 125589425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 708 (V708L)

Ref Sequence

ENSEMBL: ENSMUSP00000055772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053699]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053699
AA Change: V708L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000055772
Gene: ENSMUSG00000035093
AA Change: V708L

Domain	Start	End	E-Value	Type
low complexity region	441	459	N/A	INTRINSIC
low complexity region	555	568	N/A	INTRINSIC
Pfam:Ribosomal_L7Ae	700	802	7.6e-24	PFAM
low complexity region	821	831	N/A	INTRINSIC
low complexity region	970	978	N/A	INTRINSIC
low complexity region	985	996	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121529
Gene: ENSMUSG00000035093
AA Change: V333L

Domain	Start	End	E-Value	Type
low complexity region	67	85	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
Pfam:Ribosomal_L7Ae	326	427	3.5e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,760,093 (GRCm39)	D104G	possibly damaging	Het
Ahnak2	G	T	12: 112,746,831 (GRCm39)	D1166E		Het
C2cd3	T	A	7: 100,081,756 (GRCm39)	S1133T		Het
Ccdc17	A	G	4: 116,454,791 (GRCm39)	Q168R	probably benign	Het
Fn1	A	T	1: 71,668,941 (GRCm39)	I668N	probably damaging	Het
Fyb2	C	A	4: 104,872,833 (GRCm39)	N735K	probably damaging	Het
Gad1	T	C	2: 70,416,284 (GRCm39)	S248P	possibly damaging	Het
Gcnt1	G	A	19: 17,307,422 (GRCm39)	A101V	probably benign	Het
Herc1	T	A	9: 66,372,840 (GRCm39)	M3132K	possibly damaging	Het
Htra3	T	C	5: 35,821,409 (GRCm39)	I323V	probably damaging	Het
Ighv11-2	A	T	12: 114,012,047 (GRCm39)	V56D	probably damaging	Het
Itga8	C	T	2: 12,237,701 (GRCm39)	G340R	probably damaging	Het
Kcnk15	C	T	2: 163,700,127 (GRCm39)	T122M	probably damaging	Het
Kif13a	G	T	13: 46,956,020 (GRCm39)	Q658K	probably benign	Het
Kif13b	T	C	14: 65,013,759 (GRCm39)	I1303T	possibly damaging	Het
Kifc3	A	T	8: 95,861,372 (GRCm39)	S94R	possibly damaging	Het
Lrrc63	A	T	14: 75,322,379 (GRCm39)	F575Y	possibly damaging	Het
Map1a	T	C	2: 121,136,398 (GRCm39)	S2405P	probably damaging	Het
Map2	A	G	1: 66,449,753 (GRCm39)	T159A	probably benign	Het
Mgam	A	T	6: 40,727,519 (GRCm39)	I1315F	probably damaging	Het
Or51a39	T	C	7: 102,363,372 (GRCm39)	T83A	probably damaging	Het
Pah	T	A	10: 87,403,197 (GRCm39)	F191I	probably damaging	Het
Plekhh2	G	A	17: 84,854,918 (GRCm39)	D51N	possibly damaging	Het
Ppp4r2	C	T	6: 100,838,409 (GRCm39)	T109M	probably damaging	Het
Rfx7	T	C	9: 72,525,122 (GRCm39)	S771P	possibly damaging	Het
Sec11a	T	C	7: 80,565,899 (GRCm39)	*171W	probably null	Het
Shpk	C	T	11: 73,104,267 (GRCm39)	P139S	possibly damaging	Het
Slc6a18	A	G	13: 73,816,323 (GRCm39)	L352P	possibly damaging	Het
Slitrk3	T	C	3: 72,957,981 (GRCm39)	T264A	probably benign	Het
Smg9	T	G	7: 24,120,246 (GRCm39)	S407A	probably damaging	Het
Stmn4	A	G	14: 66,595,338 (GRCm39)	E121G	probably damaging	Het
Tmem237	G	A	1: 59,159,146 (GRCm39)	P10S	probably benign	Het
Vmn2r73	A	G	7: 85,519,659 (GRCm39)	I433T	probably benign	Het
Zfp28	T	A	7: 6,392,816 (GRCm39)	M164K	probably benign	Het
Zswim8	A	G	14: 20,763,171 (GRCm39)	M357V	probably damaging	Het

Other mutations in Secisbp2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Secisbp2l	APN	2	125,585,776 (GRCm39)	missense	probably damaging	0.99
IGL00644:Secisbp2l	APN	2	125,585,764 (GRCm39)	missense	probably damaging	1.00
IGL01093:Secisbp2l	APN	2	125,582,245 (GRCm39)	missense	probably benign
IGL01621:Secisbp2l	APN	2	125,615,131 (GRCm39)	missense	probably benign
IGL01955:Secisbp2l	APN	2	125,585,732 (GRCm39)	critical splice donor site	probably null
IGL02036:Secisbp2l	APN	2	125,600,127 (GRCm39)	missense	probably benign
IGL02045:Secisbp2l	APN	2	125,617,498 (GRCm39)	missense	possibly damaging	0.82
IGL02182:Secisbp2l	APN	2	125,589,497 (GRCm39)	missense	probably damaging	1.00
IGL02408:Secisbp2l	APN	2	125,582,789 (GRCm39)	nonsense	probably null
IGL02455:Secisbp2l	APN	2	125,615,398 (GRCm39)	missense	possibly damaging	0.89
IGL02953:Secisbp2l	APN	2	125,602,194 (GRCm39)	missense	probably benign	0.36
Rift	UTSW	2	125,610,113 (GRCm39)	missense	probably damaging	1.00
Seismic	UTSW	2	125,587,829 (GRCm39)	missense	probably damaging	1.00
R0097:Secisbp2l	UTSW	2	125,613,376 (GRCm39)	missense	probably damaging	0.96
R0097:Secisbp2l	UTSW	2	125,613,376 (GRCm39)	missense	probably damaging	0.96
R1415:Secisbp2l	UTSW	2	125,582,285 (GRCm39)	missense	probably benign	0.00
R1626:Secisbp2l	UTSW	2	125,617,606 (GRCm39)	missense	probably damaging	0.99
R1926:Secisbp2l	UTSW	2	125,582,597 (GRCm39)	missense	probably damaging	0.99
R1940:Secisbp2l	UTSW	2	125,582,259 (GRCm39)	missense	probably damaging	1.00
R1970:Secisbp2l	UTSW	2	125,589,430 (GRCm39)	missense	probably damaging	1.00
R2100:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R2240:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R2252:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R2253:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R2472:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R2474:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R2475:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R2990:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R2993:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R3113:Secisbp2l	UTSW	2	125,592,206 (GRCm39)	missense	probably damaging	1.00
R3696:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R3749:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R3750:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R3800:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R3810:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R3812:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R3815:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R3816:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R3817:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R3880:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4077:Secisbp2l	UTSW	2	125,593,785 (GRCm39)	splice site	probably benign
R4096:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4097:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4164:Secisbp2l	UTSW	2	125,593,803 (GRCm39)	intron	probably benign
R4332:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4418:Secisbp2l	UTSW	2	125,594,835 (GRCm39)	missense	probably benign	0.00
R4598:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4600:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4602:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4603:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4678:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4679:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4684:Secisbp2l	UTSW	2	125,587,862 (GRCm39)	missense	probably damaging	1.00
R4741:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4749:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R4934:Secisbp2l	UTSW	2	125,582,409 (GRCm39)	missense	probably damaging	0.99
R5245:Secisbp2l	UTSW	2	125,589,511 (GRCm39)	missense	probably damaging	1.00
R5521:Secisbp2l	UTSW	2	125,594,897 (GRCm39)	missense	possibly damaging	0.94
R5547:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R5630:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R5631:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R5632:Secisbp2l	UTSW	2	125,582,657 (GRCm39)	missense	possibly damaging	0.66
R6039:Secisbp2l	UTSW	2	125,615,136 (GRCm39)	missense	probably benign	0.28
R6039:Secisbp2l	UTSW	2	125,615,136 (GRCm39)	missense	probably benign	0.28
R6378:Secisbp2l	UTSW	2	125,610,245 (GRCm39)	missense	possibly damaging	0.78
R6616:Secisbp2l	UTSW	2	125,610,146 (GRCm39)	missense	probably damaging	0.96
R6938:Secisbp2l	UTSW	2	125,592,272 (GRCm39)	missense	probably damaging	1.00
R7287:Secisbp2l	UTSW	2	125,582,289 (GRCm39)	missense	probably benign
R7373:Secisbp2l	UTSW	2	125,599,191 (GRCm39)	missense	probably damaging	0.99
R7403:Secisbp2l	UTSW	2	125,602,199 (GRCm39)	missense	possibly damaging	0.73
R7484:Secisbp2l	UTSW	2	125,613,452 (GRCm39)	nonsense	probably null
R7504:Secisbp2l	UTSW	2	125,600,091 (GRCm39)	missense	probably benign	0.30
R7762:Secisbp2l	UTSW	2	125,610,113 (GRCm39)	missense	probably damaging	1.00
R7769:Secisbp2l	UTSW	2	125,613,465 (GRCm39)	critical splice acceptor site	probably benign
R8018:Secisbp2l	UTSW	2	125,587,829 (GRCm39)	missense	probably damaging	1.00
R8487:Secisbp2l	UTSW	2	125,617,502 (GRCm39)	nonsense	probably null
R8784:Secisbp2l	UTSW	2	125,602,263 (GRCm39)	nonsense	probably null
R8810:Secisbp2l	UTSW	2	125,617,596 (GRCm39)	missense	possibly damaging	0.82
R8872:Secisbp2l	UTSW	2	125,594,892 (GRCm39)	missense	probably benign
R9111:Secisbp2l	UTSW	2	125,602,206 (GRCm39)	missense	probably benign
R9154:Secisbp2l	UTSW	2	125,617,623 (GRCm39)	missense	probably damaging	1.00
R9155:Secisbp2l	UTSW	2	125,617,623 (GRCm39)	missense	probably damaging	1.00
R9589:Secisbp2l	UTSW	2	125,589,430 (GRCm39)	missense	probably damaging	1.00
R9592:Secisbp2l	UTSW	2	125,582,561 (GRCm39)	missense	probably damaging	1.00
R9602:Secisbp2l	UTSW	2	125,609,356 (GRCm39)	missense	probably benign	0.19
R9620:Secisbp2l	UTSW	2	125,589,394 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACATGGTTTCCAGCTGCAAG -3'
(R):5'- ATGCCTTGTTGAATGTATTCACCC -3'

Sequencing Primer
(F):5'- CAAGATGGGTTTGAGTTCCCCAC -3'
(R):5'- CTTGTTGAATGTATTCACCCTCAAAG -3'

Posted On

2022-08-09