Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Ss18l1'

503825

Institutional Source

Beutler Lab

Gene Symbol

Ss18l1

Ensembl Gene

ENSMUSG00000039086

Gene Name

SS18, nBAF chromatin remodeling complex subunit like 1

Synonyms

CREST, A230053O16Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179684302-179711994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 179696905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 109 (V109I)

Ref Sequence

ENSEMBL: ENSMUSP00000041288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041126]

AlphaFold

Q8BW22

Predicted Effect

probably benign
Transcript: ENSMUST00000041126
AA Change: V109I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000041288
Gene: ENSMUSG00000039086
AA Change: V109I

Domain	Start	End	E-Value	Type
Pfam:SSXT	13	74	4.3e-35	PFAM
low complexity region	85	106	N/A	INTRINSIC
low complexity region	215	238	N/A	INTRINSIC
low complexity region	244	251	N/A	INTRINSIC
low complexity region	311	375	N/A	INTRINSIC
low complexity region	390	402	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have central nervous system and coordination defects. They grow slowly and usually die before adulthood. Those that do survive are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,728,730 (GRCm39)	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 48,910,134 (GRCm39)	N766K	probably benign	Het
Adam15	A	C	3: 89,251,190 (GRCm39)	I505S	probably benign	Het
Apc2	T	C	10: 80,142,254 (GRCm39)	M391T	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bclaf1	A	G	10: 20,210,374 (GRCm39)	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,216,021 (GRCm39)	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,724,863 (GRCm39)		probably null	Het
Ddhd1	A	G	14: 45,851,633 (GRCm39)	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,526,671 (GRCm39)	S469T	probably benign	Het
Dzip3	A	T	16: 48,778,828 (GRCm39)	M323K	possibly damaging	Het
Eci2	T	A	13: 35,177,048 (GRCm39)		probably null	Het
Fam227b	A	T	2: 125,968,882 (GRCm39)	V64E	probably damaging	Het
Galnt2	A	G	8: 125,070,054 (GRCm39)	I524V	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm3443	T	A	19: 21,533,110 (GRCm39)	S25T	probably damaging	Het
Gpr22	T	A	12: 31,761,616 (GRCm39)	K14*	probably null	Het
Grip1	T	C	10: 119,822,251 (GRCm39)	S405P	possibly damaging	Het
Helz2	T	C	2: 180,877,738 (GRCm39)	H1020R	probably damaging	Het
Helz2	C	A	2: 180,874,087 (GRCm39)	V2136L	probably benign	Het
Il36rn	G	A	2: 24,167,502 (GRCm39)		probably benign	Het
Iqsec1	T	A	6: 90,666,617 (GRCm39)	S607C	probably damaging	Het
Irag1	G	A	7: 110,476,112 (GRCm39)	T819M	probably benign	Het
Klhl2	A	T	8: 65,205,801 (GRCm39)	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,168,645 (GRCm39)	I595V	unknown	Het
Large2	T	C	2: 92,200,981 (GRCm39)	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,009,881 (GRCm39)	Y122H	probably damaging	Het
Map1b	A	T	13: 99,569,714 (GRCm39)	D1002E	unknown	Het
Mink1	C	T	11: 70,489,720 (GRCm39)	T59I	possibly damaging	Het
Myo7b	T	C	18: 32,092,507 (GRCm39)	N2097D	probably benign	Het
Nbea	C	A	3: 55,535,905 (GRCm39)	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,490,257 (GRCm39)	V490E	probably damaging	Het
Or2w1b	G	A	13: 21,300,401 (GRCm39)	E180K	probably damaging	Het
Or2y3	A	G	17: 38,393,620 (GRCm39)	M83T	probably damaging	Het
Or4c123	G	T	2: 89,127,306 (GRCm39)	H103N	probably damaging	Het
Or4f62	T	C	2: 111,986,701 (GRCm39)	I135T	probably damaging	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Pctp	A	G	11: 89,878,144 (GRCm39)	I130T	probably benign	Het
Pdcl3	T	C	1: 39,027,152 (GRCm39)		probably null	Het
Pheta2	T	A	15: 82,227,917 (GRCm39)	H145Q	probably benign	Het
Pira12	A	T	7: 3,897,031 (GRCm39)	S602T	possibly damaging	Het
Pkp1	T	C	1: 135,807,646 (GRCm39)	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,898,992 (GRCm39)	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,430 (GRCm39)	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,098,823 (GRCm39)	Y712H	probably damaging	Het
Prune2	T	C	19: 17,098,926 (GRCm39)	S1477P	probably benign	Het
Psma5	A	G	3: 108,187,118 (GRCm39)	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,106,286 (GRCm39)	A284P	probably benign	Het
Samsn1	G	A	16: 75,742,162 (GRCm39)		noncoding transcript	Het
Scel	A	G	14: 103,809,478 (GRCm39)	T273A	probably benign	Het
Slc22a5	T	A	11: 53,782,444 (GRCm39)		probably benign	Het
Slc25a37	A	T	14: 69,486,953 (GRCm39)	M110K	possibly damaging	Het
Slc6a2	A	T	8: 93,708,609 (GRCm39)	M242L	probably benign	Het
Slc8a3	C	A	12: 81,246,341 (GRCm39)	W904L	probably benign	Het
Tbx5	C	T	5: 119,991,663 (GRCm39)	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,360,342 (GRCm39)	L244F	probably damaging	Het
Tmem107	T	A	11: 68,962,241 (GRCm39)	V66E	probably damaging	Het
Tnr	T	C	1: 159,715,884 (GRCm39)	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,781,733 (GRCm39)	V340A	possibly damaging	Het
Veph1	T	C	3: 66,162,481 (GRCm39)	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,449,983 (GRCm39)	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,610 (GRCm39)	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,818,436 (GRCm39)	E620G	probably benign	Het
Zfp418	A	G	7: 7,185,627 (GRCm39)	H530R	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,581 (GRCm39)	A10T	possibly damaging	Het

Other mutations in Ss18l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0781:Ss18l1	UTSW	2	179,697,647 (GRCm39)	missense	possibly damaging	0.57
R0904:Ss18l1	UTSW	2	179,701,147 (GRCm39)	missense	probably damaging	1.00
R1938:Ss18l1	UTSW	2	179,705,138 (GRCm39)	missense	unknown
R2853:Ss18l1	UTSW	2	179,699,914 (GRCm39)	missense	probably damaging	1.00
R3825:Ss18l1	UTSW	2	179,705,103 (GRCm39)	missense	unknown
R4907:Ss18l1	UTSW	2	179,705,192 (GRCm39)	critical splice donor site	probably null
R5256:Ss18l1	UTSW	2	179,703,735 (GRCm39)	missense	unknown
R5508:Ss18l1	UTSW	2	179,699,446 (GRCm39)	missense	probably damaging	0.96
R6216:Ss18l1	UTSW	2	179,703,706 (GRCm39)	missense	unknown
R7529:Ss18l1	UTSW	2	179,699,950 (GRCm39)	missense	possibly damaging	0.80
R8192:Ss18l1	UTSW	2	179,701,155 (GRCm39)	missense	probably damaging	0.98
R8498:Ss18l1	UTSW	2	179,699,968 (GRCm39)	missense	probably damaging	0.96
R8830:Ss18l1	UTSW	2	179,709,131 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATCCGCATGGGTCACTGAATC -3'
(R):5'- CACAGACACTTAGGCTCAGAGG -3'

Sequencing Primer
(F):5'- ATGGGTCACTGAATCCTCGG -3'
(R):5'- CACTTAGGCTCAGAGGAGTACC -3'

Posted On

2018-02-27