Mutagenetix > Incidental Mutation

Incidental Mutation 'R8755:Secisbp2'

664129

Institutional Source

Beutler Lab

Gene Symbol

Secisbp2

Ensembl Gene

ENSMUSG00000035139

Gene Name

SECIS binding protein 2

Synonyms

SBP2, 2810012K13Rik, 2210413N07Rik

MMRRC Submission

068596-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51805733-51838080 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51833869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 670 (V670I)

Ref Sequence

ENSEMBL: ENSMUSP00000045740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040117]

AlphaFold

Q3U1C4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040117
AA Change: V670I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045740
Gene: ENSMUSG00000035139
AA Change: V670I

Domain	Start	End	E-Value	Type
low complexity region	179	192	N/A	INTRINSIC
low complexity region	375	389	N/A	INTRINSIC
low complexity region	542	553	N/A	INTRINSIC
Pfam:Ribosomal_L7Ae	662	764	4.4e-23	PFAM
low complexity region	793	809	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. The gene described in this record encodes a nuclear protein that functions as a SECIS binding protein. Mutations in a similar gene in human have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete preweaning lethality while heterozygotes exhibit reduced serum selenium levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,255,520 (GRCm39)	D86E	probably benign	Het
Akap3	A	G	6: 126,843,130 (GRCm39)	D583G	possibly damaging	Het
Alms1	T	A	6: 85,598,556 (GRCm39)	D1127E	probably benign	Het
Anks4b	T	A	7: 119,773,307 (GRCm39)		probably null	Het
Ano8	A	T	8: 71,935,724 (GRCm39)	F298Y	probably benign	Het
Arhgef2	C	A	3: 88,536,850 (GRCm39)	Q7K	probably benign	Het
Brd10	T	C	19: 29,693,890 (GRCm39)	I1868V	probably benign	Het
Cand2	T	C	6: 115,769,941 (GRCm39)	L917P	probably damaging	Het
Car8	T	C	4: 8,238,083 (GRCm39)	D44G	probably benign	Het
Cdk1	T	C	10: 69,176,435 (GRCm39)	N224S	probably benign	Het
Cep162	T	C	9: 87,114,064 (GRCm39)	E336G	probably benign	Het
Chd7	T	C	4: 8,866,069 (GRCm39)	M2792T	probably benign	Het
Cyp4f40	A	T	17: 32,886,957 (GRCm39)	K143*	probably null	Het
Cyth1	T	A	11: 118,074,768 (GRCm39)	M178L	probably benign	Het
Dcaf11	C	T	14: 55,798,023 (GRCm39)		probably benign	Het
Dlec1	T	G	9: 118,967,225 (GRCm39)	W1203G	probably damaging	Het
Fgd4	A	T	16: 16,302,133 (GRCm39)	S141T	probably benign	Het
Firrm	A	G	1: 163,786,895 (GRCm39)	S725P	probably damaging	Het
Flg2	T	A	3: 93,108,120 (GRCm39)	D49E	probably damaging	Het
Fyb2	T	A	4: 104,861,086 (GRCm39)	D647E	unknown	Het
Gstp1	T	C	19: 4,086,698 (GRCm39)	Y109C	probably damaging	Het
Gtf3c3	T	C	1: 54,468,031 (GRCm39)	E202G	probably benign	Het
Hephl1	A	G	9: 14,985,563 (GRCm39)	F698L	probably benign	Het
Hephl1	G	T	9: 15,023,280 (GRCm39)	P41T	probably damaging	Het
Hmcn1	T	A	1: 150,509,371 (GRCm39)	E3659V	probably benign	Het
Il27ra	A	T	8: 84,765,988 (GRCm39)	D229E	probably damaging	Het
Itih2	T	A	2: 10,103,369 (GRCm39)	D706V	probably damaging	Het
Itpr2	A	T	6: 146,133,926 (GRCm39)	C1893S	probably benign	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Laptm4b	A	G	15: 34,273,420 (GRCm39)	D111G	probably damaging	Het
Ldb3	T	A	14: 34,299,256 (GRCm39)	S123C	probably damaging	Het
Lgals12	C	T	19: 7,581,345 (GRCm39)	E121K	possibly damaging	Het
Mmp13	T	A	9: 7,277,996 (GRCm39)	S296R	possibly damaging	Het
Mpeg1	T	C	19: 12,439,238 (GRCm39)	F232S	probably damaging	Het
Ncapd2	A	T	6: 125,148,817 (GRCm39)	C990S	possibly damaging	Het
Nckap5	A	T	1: 125,954,279 (GRCm39)	C758S	possibly damaging	Het
Nwd1	A	T	8: 73,394,192 (GRCm39)	D485V	probably damaging	Het
Or13a21	T	G	7: 139,999,417 (GRCm39)	S90R	probably benign	Het
Or6c2	T	C	10: 129,362,332 (GRCm39)	F79L	possibly damaging	Het
Or8g50	T	A	9: 39,648,786 (GRCm39)	I225N	probably damaging	Het
Pcgf3	G	A	5: 108,634,108 (GRCm39)	R122Q	probably benign	Het
Pgm5	T	A	19: 24,812,212 (GRCm39)	I107F	probably damaging	Het
Pid1	G	T	1: 84,016,066 (GRCm39)	H114N	probably damaging	Het
Pkdrej	T	C	15: 85,703,807 (GRCm39)	T710A	probably benign	Het
Plpbp	T	A	8: 27,535,165 (GRCm39)		probably null	Het
Ppfibp2	T	G	7: 107,343,432 (GRCm39)	F824V	probably damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Psg17	T	A	7: 18,550,836 (GRCm39)	T340S	possibly damaging	Het
Pstpip2	T	C	18: 77,961,133 (GRCm39)	S239P	probably damaging	Het
Ralbp1	A	C	17: 66,166,036 (GRCm39)	S383A	possibly damaging	Het
Ranbp2	T	A	10: 58,300,969 (GRCm39)	L613*	probably null	Het
Rgs11	T	C	17: 26,422,346 (GRCm39)	V49A	probably damaging	Het
Ryr1	C	T	7: 28,791,693 (GRCm39)	V1404I	probably benign	Het
Slc22a13	T	A	9: 119,038,126 (GRCm39)	M1L	probably damaging	Het
Slc5a1	A	T	5: 33,316,526 (GRCm39)	I591L	probably benign	Het
Tacr2	T	A	10: 62,088,733 (GRCm39)	V46E	possibly damaging	Het
Tet2	C	T	3: 133,194,039 (GRCm39)	G132S	probably damaging	Het
Thsd7a	G	A	6: 12,408,851 (GRCm39)	R724*	probably null	Het
Tmco3	A	T	8: 13,341,782 (GRCm39)	I19L	probably benign	Het
Tnfrsf1a	T	A	6: 125,334,768 (GRCm39)	L14Q	probably benign	Het
Tpm1	A	T	9: 66,935,371 (GRCm39)	L248Q	probably benign	Het
Tprn	T	A	2: 25,154,027 (GRCm39)	I443N	probably benign	Het
Unc80	A	T	1: 66,651,290 (GRCm39)	H1545L	possibly damaging	Het
Vmn2r97	T	A	17: 19,168,104 (GRCm39)	M786K	probably damaging	Het
Wipi1	C	T	11: 109,494,645 (GRCm39)	V63M	probably damaging	Het
Zcchc4	G	A	5: 52,976,724 (GRCm39)	R506H	unknown	Het
Zfand6	A	T	7: 84,281,899 (GRCm39)	V110E	probably benign	Het
Zfp866	A	T	8: 70,219,381 (GRCm39)	Y80N	possibly damaging	Het

Other mutations in Secisbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Secisbp2	APN	13	51,830,491 (GRCm39)	critical splice donor site	probably null
IGL01316:Secisbp2	APN	13	51,808,552 (GRCm39)	missense	probably benign	0.06
IGL02576:Secisbp2	APN	13	51,824,894 (GRCm39)	missense	possibly damaging	0.80
IGL02630:Secisbp2	APN	13	51,832,942 (GRCm39)	missense	possibly damaging	0.63
IGL02645:Secisbp2	APN	13	51,836,496 (GRCm39)	missense	probably damaging	1.00
IGL03107:Secisbp2	APN	13	51,806,793 (GRCm39)	critical splice donor site	probably null
R0208:Secisbp2	UTSW	13	51,833,881 (GRCm39)	missense	probably benign	0.26
R0453:Secisbp2	UTSW	13	51,837,361 (GRCm39)	missense	possibly damaging	0.91
R1220:Secisbp2	UTSW	13	51,810,941 (GRCm39)	missense	probably damaging	1.00
R1278:Secisbp2	UTSW	13	51,808,546 (GRCm39)	missense	probably damaging	1.00
R1439:Secisbp2	UTSW	13	51,833,759 (GRCm39)	splice site	probably benign
R1514:Secisbp2	UTSW	13	51,836,131 (GRCm39)	missense	possibly damaging	0.83
R1568:Secisbp2	UTSW	13	51,827,143 (GRCm39)	missense	possibly damaging	0.73
R1724:Secisbp2	UTSW	13	51,824,882 (GRCm39)	missense	probably benign
R2851:Secisbp2	UTSW	13	51,808,671 (GRCm39)	splice site	probably null
R2967:Secisbp2	UTSW	13	51,824,915 (GRCm39)	missense	probably benign	0.00
R3156:Secisbp2	UTSW	13	51,816,711 (GRCm39)	missense	probably benign	0.06
R4393:Secisbp2	UTSW	13	51,808,502 (GRCm39)	missense	probably damaging	1.00
R4719:Secisbp2	UTSW	13	51,806,768 (GRCm39)	missense	possibly damaging	0.96
R4953:Secisbp2	UTSW	13	51,836,063 (GRCm39)	missense	probably damaging	1.00
R5183:Secisbp2	UTSW	13	51,819,460 (GRCm39)	missense	probably benign	0.14
R5432:Secisbp2	UTSW	13	51,828,002 (GRCm39)	small deletion	probably benign
R5696:Secisbp2	UTSW	13	51,833,857 (GRCm39)	missense	probably damaging	1.00
R6007:Secisbp2	UTSW	13	51,819,395 (GRCm39)	missense	probably damaging	0.99
R6066:Secisbp2	UTSW	13	51,831,258 (GRCm39)	missense	probably benign	0.00
R6076:Secisbp2	UTSW	13	51,833,813 (GRCm39)	missense	probably damaging	0.98
R6164:Secisbp2	UTSW	13	51,833,896 (GRCm39)	missense	probably damaging	1.00
R6346:Secisbp2	UTSW	13	51,833,923 (GRCm39)	missense	probably damaging	0.99
R6367:Secisbp2	UTSW	13	51,836,177 (GRCm39)	missense	probably damaging	1.00
R6790:Secisbp2	UTSW	13	51,824,939 (GRCm39)	missense	probably benign	0.09
R6888:Secisbp2	UTSW	13	51,833,977 (GRCm39)	missense	probably benign	0.16
R7095:Secisbp2	UTSW	13	51,831,290 (GRCm39)	missense	probably benign	0.01
R7104:Secisbp2	UTSW	13	51,810,943 (GRCm39)	nonsense	probably null
R7261:Secisbp2	UTSW	13	51,836,498 (GRCm39)	missense	probably damaging	1.00
R7717:Secisbp2	UTSW	13	51,827,134 (GRCm39)	missense	probably benign	0.00
R7986:Secisbp2	UTSW	13	51,819,395 (GRCm39)	missense	probably damaging	0.99
R8021:Secisbp2	UTSW	13	51,819,664 (GRCm39)	makesense	probably null
R8496:Secisbp2	UTSW	13	51,819,383 (GRCm39)	missense	probably damaging	1.00
R8757:Secisbp2	UTSW	13	51,833,869 (GRCm39)	missense	possibly damaging	0.92
R8758:Secisbp2	UTSW	13	51,833,869 (GRCm39)	missense	possibly damaging	0.92
R8759:Secisbp2	UTSW	13	51,833,869 (GRCm39)	missense	possibly damaging	0.92
R8833:Secisbp2	UTSW	13	51,819,352 (GRCm39)	missense	probably benign	0.01
R8878:Secisbp2	UTSW	13	51,837,404 (GRCm39)	missense	probably benign	0.13
R9153:Secisbp2	UTSW	13	51,833,855 (GRCm39)	missense	possibly damaging	0.92
R9295:Secisbp2	UTSW	13	51,808,483 (GRCm39)	missense	probably damaging	1.00
R9528:Secisbp2	UTSW	13	51,810,979 (GRCm39)	missense	possibly damaging	0.57
R9562:Secisbp2	UTSW	13	51,837,320 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTTGCATGGTCCTGCTGAG -3'
(R):5'- CACTAGAAAGCGACTTCTCTGTTG -3'

Sequencing Primer
(F):5'- CATGGTCCTGCTGAGTGCTG -3'
(R):5'- AGCGACTTCTCTGTTGAAACTG -3'

Posted On

2021-03-08