Mutagenetix > Incidental Mutation

Incidental Mutation 'R3810:Secisbp2l'

275148

Institutional Source

Beutler Lab

Gene Symbol

Secisbp2l

Ensembl Gene

ENSMUSG00000035093

Gene Name

SECIS binding protein 2-like

Synonyms

3110001I20Rik

MMRRC Submission

040880-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.756) question?

Stock #

R3810 (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: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	T	A	14: 8,045,603 (GRCm38)	V173D	probably benign	Het
Agbl3	G	T	6: 34,776,664 (GRCm39)	S385I	probably damaging	Het
Ahcyl2	A	G	6: 29,891,260 (GRCm39)	I455V	probably benign	Het
Bpifb2	T	A	2: 153,733,871 (GRCm39)	D404E	probably benign	Het
Ctbp1	A	G	5: 33,424,389 (GRCm39)		probably benign	Het
D130040H23Rik	T	A	8: 69,755,022 (GRCm39)	C160S	probably damaging	Het
Dapk1	T	C	13: 60,908,503 (GRCm39)	W1039R	probably damaging	Het
Dock6	T	C	9: 21,712,873 (GRCm39)	K1995E	probably damaging	Het
Entpd3	A	G	9: 120,391,068 (GRCm39)	E440G	probably benign	Het
Gm20939	G	A	17: 95,184,138 (GRCm39)	R262K	possibly damaging	Het
Gm9637	A	T	14: 19,402,398 (GRCm38)		noncoding transcript	Het
Gm9847	T	C	12: 14,545,148 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,757 (GRCm39)	E182G	probably damaging	Het
Has1	T	C	17: 18,067,822 (GRCm39)	Y356C	probably damaging	Het
Hivep2	A	G	10: 14,006,101 (GRCm39)	T900A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl35	A	G	7: 99,119,448 (GRCm39)	D311G	probably benign	Het
Metap2	A	T	10: 93,706,026 (GRCm39)	L252*	probably null	Het
Mrgpra9	T	A	7: 46,885,527 (GRCm39)	I47F	probably damaging	Het
Muc5b	T	C	7: 141,417,863 (GRCm39)	L3603P	possibly damaging	Het
Neurl4	A	G	11: 69,794,859 (GRCm39)	H323R	probably damaging	Het
Oas1d	A	T	5: 121,053,049 (GRCm39)	I35F	probably damaging	Het
Or4c124	G	A	2: 89,156,098 (GRCm39)	T142M	probably benign	Het
Or4c12b	T	A	2: 89,647,395 (GRCm39)	S242T	probably damaging	Het
Or5w18	C	T	2: 87,633,396 (GRCm39)	S221F	possibly damaging	Het
Or5w19	T	A	2: 87,698,745 (GRCm39)	S137T	probably damaging	Het
Orc6	T	A	8: 86,026,613 (GRCm39)	S19R	probably benign	Het
Pcdh12	T	C	18: 38,414,290 (GRCm39)	E945G	probably damaging	Het
Plekha6	A	G	1: 133,201,717 (GRCm39)	M377V	probably benign	Het
Psmd1	T	A	1: 86,060,437 (GRCm39)	V828D	probably damaging	Het
Rbbp5	T	C	1: 132,420,325 (GRCm39)	V59A	probably damaging	Het
Tas2r130	A	G	6: 131,607,792 (GRCm39)	M1T	probably null	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trgv2	T	C	13: 19,521,011 (GRCm39)	T28A	possibly damaging	Het
Trpc4ap	T	A	2: 155,485,355 (GRCm39)	I448F	probably damaging	Het
Ttc21b	C	T	2: 66,082,577 (GRCm39)		probably null	Het
Txndc5	T	C	13: 38,707,381 (GRCm39)	K99E	probably benign	Het
Uvrag	A	G	7: 98,628,919 (GRCm39)	Y383H	probably damaging	Het
Vim	T	C	2: 13,583,563 (GRCm39)		probably null	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
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
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'- CTTGTAGAGACTAACTGGAGGAGC -3'

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

Posted On

2015-04-02