Mutagenetix > Incidental Mutation

Incidental Mutation 'R6157:Spsb4'

489651

Institutional Source

Beutler Lab

Gene Symbol

Spsb4

Ensembl Gene

ENSMUSG00000046997

Gene Name

splA/ryanodine receptor domain and SOCS box containing 4

Synonyms

D030068E18Rik, Ssb4

MMRRC Submission

044304-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R6157 (G1)

Quality Score

208.009

Status

Validated

Chromosome

Chromosomal Location

96825535-96900408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96878160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 54 (H54Q)

Ref Sequence

ENSEMBL: ENSMUSP00000057849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055433]

AlphaFold

Q8R5B6

Predicted Effect

probably damaging
Transcript: ENSMUST00000055433
AA Change: H54Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057849
Gene: ENSMUSG00000046997
AA Change: H54Q

Domain	Start	End	E-Value	Type
SPRY	95	230	5.67e-19	SMART
SOCS_box	234	273	3.41e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000064445

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 93.1%

Validation Efficiency

93% (40/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,947,617 (GRCm39)	K505E	possibly damaging	Het
Abcb1b	A	T	5: 8,874,245 (GRCm39)	N390I	possibly damaging	Het
Apob	A	T	12: 8,056,077 (GRCm39)	M1520L	probably benign	Het
Atg4c	C	T	4: 99,123,400 (GRCm39)	R396*	probably null	Het
Atp2a3	G	A	11: 72,871,442 (GRCm39)	V648M	probably damaging	Het
Blm	T	C	7: 80,162,733 (GRCm39)	D203G	probably benign	Het
Csrnp3	A	T	2: 65,779,363 (GRCm39)	D13V	probably damaging	Het
Dnajc10	A	T	2: 80,147,735 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,250,253 (GRCm39)	Y1729C	probably damaging	Het
Dynlt2b	G	A	16: 32,238,660 (GRCm39)	A12T	possibly damaging	Het
Ecsit	T	C	9: 21,985,987 (GRCm39)	Y213C	probably damaging	Het
Fer	A	G	17: 64,385,880 (GRCm39)	K654R	probably damaging	Het
Hdac9	G	T	12: 34,439,428 (GRCm39)	A383E	probably damaging	Het
Hltf	T	A	3: 20,130,660 (GRCm39)	S293T	probably benign	Het
Hydin	T	A	8: 111,254,648 (GRCm39)	D2359E	probably benign	Het
Inf2	A	G	12: 112,571,222 (GRCm39)		probably benign	Het
Kcns2	A	G	15: 34,839,504 (GRCm39)	N289S	possibly damaging	Het
Meioc	T	C	11: 102,559,227 (GRCm39)	S50P	probably damaging	Het
Mocs1	G	T	17: 49,761,764 (GRCm39)	E619D	probably benign	Het
Nfatc2	A	G	2: 168,361,371 (GRCm39)		probably benign	Het
Or51i1	T	A	7: 103,671,105 (GRCm39)	N140I	possibly damaging	Het
Pag1	A	T	3: 9,758,896 (GRCm39)	H407Q	probably benign	Het
Plaat1	A	G	16: 29,036,501 (GRCm39)	I46M	possibly damaging	Het
Plcb3	G	A	19: 6,943,533 (GRCm39)	A122V	probably damaging	Het
Pld4	C	T	12: 112,734,535 (GRCm39)	T432I	probably damaging	Het
Psd3	T	G	8: 68,574,179 (GRCm39)	M1L	probably benign	Het
Rasgrp2	C	A	19: 6,452,531 (GRCm39)	L35I	probably damaging	Het
Ripor2	T	C	13: 24,885,052 (GRCm39)	L390P	probably damaging	Het
Rpgrip1	A	T	14: 52,349,631 (GRCm39)	E6D	probably benign	Het
Ryr3	A	T	2: 112,672,244 (GRCm39)	L1409Q	probably damaging	Het
Slc6a5	A	G	7: 49,601,250 (GRCm39)	T684A	probably benign	Het
Smpd4	G	T	16: 17,458,930 (GRCm39)		probably null	Het
Snx18	T	C	13: 113,753,725 (GRCm39)	S403G	probably damaging	Het
Ssrp1	A	G	2: 84,871,072 (GRCm39)	Y236C	probably damaging	Het
Tenm3	C	T	8: 48,751,843 (GRCm39)	S982N	probably damaging	Het
Tet1	A	G	10: 62,675,749 (GRCm39)	S776P	probably damaging	Het
Tln1	G	A	4: 43,534,744 (GRCm39)	P2166S	probably benign	Het
Ufl1	T	A	4: 25,279,350 (GRCm39)	Q83L	possibly damaging	Het
Unc80	A	T	1: 66,693,188 (GRCm39)	K2458*	probably null	Het
Ush2a	A	T	1: 188,460,467 (GRCm39)	Y2576F	probably benign	Het
Xrcc6	C	A	15: 81,913,305 (GRCm39)		probably null	Het
Zbtb48	A	G	4: 152,106,064 (GRCm39)	F380L	probably damaging	Het
Zfp534	C	T	4: 147,758,947 (GRCm39)	R574K	probably benign	Het

Other mutations in Spsb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:Spsb4	APN	9	96,826,646 (GRCm39)	missense	probably benign	0.01
IGL01582:Spsb4	APN	9	96,878,143 (GRCm39)	missense	probably damaging	1.00
R0320:Spsb4	UTSW	9	96,878,161 (GRCm39)	missense	probably damaging	1.00
R1664:Spsb4	UTSW	9	96,878,266 (GRCm39)	missense	possibly damaging	0.88
R2495:Spsb4	UTSW	9	96,877,840 (GRCm39)	missense	probably damaging	1.00
R2872:Spsb4	UTSW	9	96,878,071 (GRCm39)	missense	probably damaging	1.00
R2872:Spsb4	UTSW	9	96,878,071 (GRCm39)	missense	probably damaging	1.00
R2874:Spsb4	UTSW	9	96,878,071 (GRCm39)	missense	probably damaging	1.00
R3758:Spsb4	UTSW	9	96,877,924 (GRCm39)	missense	probably damaging	1.00
R4604:Spsb4	UTSW	9	96,877,931 (GRCm39)	missense	probably benign	0.00
R4678:Spsb4	UTSW	9	96,877,744 (GRCm39)	missense	probably damaging	0.98
R5532:Spsb4	UTSW	9	96,877,627 (GRCm39)	critical splice donor site	probably null
R6368:Spsb4	UTSW	9	96,826,698 (GRCm39)	missense	probably benign	0.01
R7787:Spsb4	UTSW	9	96,877,643 (GRCm39)	missense	probably damaging	0.99
R8495:Spsb4	UTSW	9	96,877,622 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTAACCCACAGAGTGCAAAG -3'
(R):5'- CCATAGTGAACCATGGGTCAG -3'

Sequencing Primer
(F):5'- CACAGAGTGCAAAGGGGCTC -3'
(R):5'- TGAACCATGGGTCAGAAGCTCTC -3'

Posted On

2017-10-10