Mutagenetix > Incidental Mutation

Incidental Mutation 'R3816:Secisbp2l'

274284

Institutional Source

Beutler Lab

Gene Symbol

Secisbp2l

Ensembl Gene

ENSMUSG00000035093

Gene Name

SECIS binding protein 2-like

Synonyms

3110001I20Rik

MMRRC Submission

040881-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.769) question?

Stock #

R3816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125578906-125624790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125582657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 933 (G933D)

Ref Sequence

ENSEMBL: ENSMUSP00000055772 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053699
AA Change: G933D

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055772
Gene: ENSMUSG00000035093
AA Change: G933D

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

probably benign
Transcript: ENSMUST00000139944

SMART Domains

Protein: ENSMUSP00000121529
Gene: ENSMUSG00000035093

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,024 (GRCm39)		probably benign	Het
Abca2	A	G	2: 25,336,083 (GRCm39)	Y2151C	probably damaging	Het
Adamts3	T	A	5: 89,853,123 (GRCm39)	H509L	probably damaging	Het
Agfg2	T	C	5: 137,652,036 (GRCm39)	D441G	probably benign	Het
Arl8b	T	A	6: 108,790,658 (GRCm39)	V65D	probably damaging	Het
As3mt	A	T	19: 46,696,216 (GRCm39)	D8V	probably benign	Het
Ass1	G	T	2: 31,400,117 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,972,451 (GRCm39)	I634V	possibly damaging	Het
Cflar	T	C	1: 58,791,582 (GRCm39)	V298A	probably benign	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Dlec1	C	T	9: 118,953,911 (GRCm39)	A610V	probably damaging	Het
Dock1	C	T	7: 134,346,015 (GRCm39)	R186*	probably null	Het
E130018O15Rik	T	C	5: 35,540,110 (GRCm39)		noncoding transcript	Het
Gabrg3	G	A	7: 57,031,412 (GRCm39)	Q43*	probably null	Het
Gipc2	T	C	3: 151,871,481 (GRCm39)	K15R	probably benign	Het
Gjb2	A	G	14: 57,337,530 (GRCm39)	V226A	probably benign	Het
Glipr2	G	T	4: 43,977,522 (GRCm39)	A51S	possibly damaging	Het
Gsdme	A	C	6: 50,196,391 (GRCm39)	S340A	probably benign	Het
H2-M10.2	A	T	17: 36,597,254 (GRCm39)	Y20*	probably null	Het
Hapstr1	T	A	16: 8,648,358 (GRCm39)	I12N	probably damaging	Het
Hlcs	A	G	16: 93,933,947 (GRCm39)	V242A	probably benign	Het
Ifi44	T	C	3: 151,454,894 (GRCm39)	I110M	possibly damaging	Het
Il18r1	T	C	1: 40,526,132 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Khk	T	C	5: 31,084,060 (GRCm39)	S80P	probably damaging	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo1g	A	G	11: 6,460,926 (GRCm39)	V706A	probably benign	Het
Npat	T	C	9: 53,481,216 (GRCm39)	S1008P	probably damaging	Het
Or2ag18	A	G	7: 106,405,027 (GRCm39)	I214T	probably damaging	Het
Or5p59	A	G	7: 107,702,705 (GRCm39)	Y63C	possibly damaging	Het
Or8b12c	C	T	9: 37,715,465 (GRCm39)	S86L	probably benign	Het
Or8b40	A	T	9: 38,027,922 (GRCm39)	T277S	possibly damaging	Het
Or8b55	A	G	9: 38,727,722 (GRCm39)	K308E	possibly damaging	Het
Pcdha2	A	G	18: 37,074,748 (GRCm39)	Y793C	probably benign	Het
Pcdhb4	A	T	18: 37,441,065 (GRCm39)	D125V	probably damaging	Het
Pdgfrb	A	G	18: 61,212,017 (GRCm39)	D844G	probably damaging	Het
Phf3	T	C	1: 30,844,834 (GRCm39)	D1375G	probably damaging	Het
Pigu	A	T	2: 155,141,063 (GRCm39)	F276I	probably damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Psmd9	C	T	5: 123,372,653 (GRCm39)		probably benign	Het
Rac2	T	C	15: 78,450,199 (GRCm39)	D47G	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sall1	G	T	8: 89,759,303 (GRCm39)	A267E	probably benign	Het
Serpina3k	A	G	12: 104,307,221 (GRCm39)	E151G	probably benign	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Slc51b	A	G	9: 65,321,300 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Sspo	A	T	6: 48,458,037 (GRCm39)	E3269V	possibly damaging	Het
Star	G	A	8: 26,299,905 (GRCm39)	M82I	probably benign	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Usp32	A	G	11: 84,885,210 (GRCm39)		probably null	Het
Vmn2r18	T	C	5: 151,485,148 (GRCm39)	N782S	probably benign	Het
Vwa3a	A	G	7: 120,399,602 (GRCm39)	T1028A	probably benign	Het
Xrn2	G	A	2: 146,870,120 (GRCm39)	G270R	probably damaging	Het
Zbbx	G	T	3: 74,992,802 (GRCm39)	Q231K	probably benign	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
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
R9589:Secisbp2l	UTSW	2	125,589,425 (GRCm39)	missense	probably benign	0.03
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'- TTCTGCTGTGGGCTCATGAC -3'
(R):5'- TGCTTCCTGCTTGTAGAGAC -3'

Sequencing Primer
(F):5'- GCTGTGGGCTCATGACTATAATCC -3'
(R):5'- CCTGCTTGTAGAGACTAACTGGAG -3'

Posted On

2015-04-02