Mutagenetix > Incidental Mutation

Incidental Mutation 'R3817:Secisbp2l'

274734

Institutional Source

Beutler Lab

Gene Symbol

Secisbp2l

Ensembl Gene

ENSMUSG00000035093

Gene Name

SECIS binding protein 2-like

Synonyms

3110001I20Rik

MMRRC Submission

040771-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.769) question?

Stock #

R3817 (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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appbp2	G	T	11: 85,088,934 (GRCm39)	P369T	probably damaging	Het
Atp1b1	C	T	1: 164,270,874 (GRCm39)	R35H	probably benign	Het
B3galt2	G	T	1: 143,522,811 (GRCm39)	G316C	probably damaging	Het
Chd9	T	C	8: 91,710,893 (GRCm39)		probably benign	Het
Clec4a4	A	C	6: 122,967,366 (GRCm39)	N14T	probably damaging	Het
Crb1	T	A	1: 139,175,835 (GRCm39)	Q716L	probably benign	Het
Cts7	T	C	13: 61,504,350 (GRCm39)	N71S	probably damaging	Het
Cyb561a3	T	C	19: 10,559,728 (GRCm39)	S18P	possibly damaging	Het
Cyp2c67	A	T	19: 39,627,127 (GRCm39)	F234L	probably benign	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Exph5	C	T	9: 53,286,794 (GRCm39)	Q1292*	probably null	Het
Gjb2	A	G	14: 57,337,530 (GRCm39)	V226A	probably benign	Het
Hivep2	T	C	10: 14,019,685 (GRCm39)	V2152A	possibly damaging	Het
Lig3	G	A	11: 82,686,941 (GRCm39)	V695M	possibly damaging	Het
Lrp1b	T	C	2: 40,766,670 (GRCm39)	E2735G	probably damaging	Het
Lrrtm4	A	G	6: 79,999,044 (GRCm39)	E152G	probably benign	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Nav2	A	G	7: 49,114,310 (GRCm39)	T765A	probably benign	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
Or8g52	A	G	9: 39,631,404 (GRCm39)	N294D	possibly damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Ppp2r5c	T	C	12: 110,510,621 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Slc27a1	T	C	8: 72,037,122 (GRCm39)	V422A	probably damaging	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Tns3	G	C	11: 8,384,619 (GRCm39)	R1400G	probably damaging	Het
Vmn2r19	A	T	6: 123,286,601 (GRCm39)	Y78F	probably damaging	Het
Wdr37	A	G	13: 8,903,632 (GRCm39)		probably benign	Het
Zfp672	G	T	11: 58,207,462 (GRCm39)	H286Q	possibly 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
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'- GCTTGTAGAGACTAACTGGAGG -3'

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

Posted On

2015-04-02