Mutagenetix > Incidental Mutations

Incidental Mutation 'R8830:Ss18l1'

673731

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

Is this an essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R8830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180042509-180070201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180067338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 397 (Y397H)

Ref Sequence

ENSEMBL: ENSMUSP00000041288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041126] [ENSMUST00000108901] [ENSMUST00000184862]

AlphaFold

Q8BW22

Predicted Effect

unknown
Transcript: ENSMUST00000041126
AA Change: Y397H

SMART Domains

Protein: ENSMUSP00000041288
Gene: ENSMUSG00000039086
AA Change: Y397H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108901

SMART Domains

Protein: ENSMUSP00000104529
Gene: ENSMUSG00000039069

Domain	Start	End	E-Value	Type
Pfam:GTP1_OBG	71	222	1.5e-49	PFAM
Pfam:FeoB_N	224	384	8.3e-12	PFAM
Pfam:MMR_HSR1	225	345	3.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184862

SMART Domains

Protein: ENSMUSP00000139273
Gene: ENSMUSG00000039069

Domain	Start	End	E-Value	Type
Pfam:GTP1_OBG	71	222	2e-43	PFAM

Meta Mutation Damage Score

0.4912

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	G	A	13: 64,297,300	Q170*	probably null	Het
Abca7	T	A	10: 80,008,971	V1509E	probably damaging	Het
Abraxas2	A	G	7: 132,883,356	D376G	probably damaging	Het
Agbl1	A	G	7: 76,335,311	T159A		Het
Ahnak2	G	A	12: 112,787,036	R89W		Het
Arhgef40	A	C	14: 52,003,708	D1396A	probably damaging	Het
Atp13a5	A	T	16: 29,248,176	F1060I	probably damaging	Het
Atp6v1c1	T	A	15: 38,677,545	F105I	probably damaging	Het
Atp9b	C	T	18: 80,765,800	E635K		Het
BC017643	C	T	11: 121,228,723		probably benign	Het
Brix1	T	A	15: 10,479,596	Q124L	possibly damaging	Het
Cep68	A	G	11: 20,230,418		probably benign	Het
Cfap46	A	G	7: 139,615,649	S2208P	unknown	Het
Crisp1	T	A	17: 40,294,419	K234*	probably null	Het
Cryzl1	C	T	16: 91,712,204	V70I	probably benign	Het
Dnah7b	T	C	1: 46,191,793	Y1404H	probably damaging	Het
Dot1l	A	G	10: 80,771,199	H109R	possibly damaging	Het
E330034G19Rik	A	C	14: 24,309,508	H329P	unknown	Het
Erbb4	A	T	1: 68,075,468	L939Q	probably damaging	Het
Fst	A	T	13: 114,455,828	C118S	probably damaging	Het
Gfra3	A	G	18: 34,711,136	V117A	possibly damaging	Het
Gldc	C	G	19: 30,100,812	M928I	probably benign	Het
Gm5538	A	T	3: 59,747,323	T193S	probably benign	Het
Gm996	T	G	2: 25,577,250	D883A		Het
Greb1	A	G	12: 16,688,519	M1481T	probably benign	Het
Hecw2	G	A	1: 53,891,146	R1045C	probably damaging	Het
Hexb	C	T	13: 97,194,254	V84I	probably benign	Het
Hpse	T	C	5: 100,695,586	E240G	probably benign	Het
Hspa12a	T	C	19: 58,805,463	D322G	possibly damaging	Het
Hspa9	A	T	18: 34,948,104		probably null	Het
Kif9	A	G	9: 110,524,930	K790R	probably damaging	Het
Klc2	C	T	19: 5,110,366		probably null	Het
Ldha	C	G	7: 46,850,278	N144K	probably benign	Het
Micalcl	A	G	7: 112,381,196	T126A	probably benign	Het
Mrpl15	A	T	1: 4,782,584	V137D	probably damaging	Het
Muc16	G	A	9: 18,646,069	T2976I	unknown	Het
Mybpc2	A	T	7: 44,512,541	V495D	probably damaging	Het
Olfr597	A	G	7: 103,321,005	K198R		Het
Olfr713	A	G	7: 107,036,682	N176D	probably benign	Het
Olfr772	A	T	10: 129,174,846	Y58*	probably null	Het
Pcnt	G	A	10: 76,382,174	T2089I	probably benign	Het
Pdzd7	T	C	19: 45,033,073	D563G	probably damaging	Het
Phlpp1	T	G	1: 106,350,603	L915R	probably damaging	Het
Plekhh2	T	A	17: 84,521,803	I34N	probably damaging	Het
Pou6f2	T	A	13: 18,378,498	T84S		Het
Ptprq	A	G	10: 107,586,695	V1612A	possibly damaging	Het
Pvrig	T	G	5: 138,342,148		probably benign	Het
Rasl10b	A	T	11: 83,412,676	I20F	probably damaging	Het
Rimbp3	T	A	16: 17,209,006	V98E	probably damaging	Het
Rims2	T	C	15: 39,437,362	I355T	possibly damaging	Het
Slc1a2	A	G	2: 102,736,015	H30R	probably benign	Het
Slc28a1	G	A	7: 81,161,046	V389M	possibly damaging	Het
Slc7a13	T	C	4: 19,819,189	S130P	probably benign	Het
Sp140	TTTTTTTT	TTTTTTTTTTTTT	1: 85,644,574		probably benign	Het
Spag17	T	A	3: 100,125,435	H2320Q	possibly damaging	Het
Speer4a	T	C	5: 26,036,795	E111G	possibly damaging	Het
Tbck	T	C	3: 132,838,057	S890P	probably damaging	Het
Tcp11	T	C	17: 28,080,230	E17G	probably benign	Het
Tesk2	C	T	4: 116,802,287	R315C	probably benign	Het
Tln1	T	C	4: 43,556,383	N45S	probably benign	Het
Trim10	C	T	17: 36,869,954	P26S	probably damaging	Het
Vmac	C	A	17: 56,715,573	G146C	probably damaging	Het
Vmn1r14	G	A	6: 57,234,032	M198I	probably damaging	Het
Vmn1r194	T	C	13: 22,244,836	Y208H	possibly damaging	Het
Vmn1r78	G	A	7: 12,153,191	C243Y	probably damaging	Het
Wasf3	C	T	5: 146,466,862	Q261*	probably null	Het
Ybx2	A	G	11: 69,936,237	K88R	probably benign	Het
Zfhx4	G	A	3: 5,398,889	R1394H	probably damaging	Het
Zfp871	T	C	17: 32,774,927	T425A	probably benign	Het
Zfy2	C	T	Y: 2,106,600	S678N	possibly damaging	Het
Zswim4	T	C	8: 84,223,316	E650G	possibly damaging	Het

Other mutations in Ss18l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0781:Ss18l1	UTSW	2	180055854	missense	possibly damaging	0.57
R0904:Ss18l1	UTSW	2	180059354	missense	probably damaging	1.00
R1938:Ss18l1	UTSW	2	180063345	missense	unknown
R2853:Ss18l1	UTSW	2	180058121	missense	probably damaging	1.00
R3825:Ss18l1	UTSW	2	180063310	missense	unknown
R4907:Ss18l1	UTSW	2	180063399	critical splice donor site	probably null
R5256:Ss18l1	UTSW	2	180061942	missense	unknown
R5508:Ss18l1	UTSW	2	180057653	missense	probably damaging	0.96
R6216:Ss18l1	UTSW	2	180061913	missense	unknown
R6218:Ss18l1	UTSW	2	180055112	missense	probably benign	0.00
R7529:Ss18l1	UTSW	2	180058157	missense	possibly damaging	0.80
R8192:Ss18l1	UTSW	2	180059362	missense	probably damaging	0.98
R8498:Ss18l1	UTSW	2	180058175	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGGCCTTCCAGGGTTCTCAC -3'
(R):5'- CATATCGCAGTCAGTGGTGC -3'

Sequencing Primer
(F):5'- TGGCTCTCCAGGGTTCTCG -3'
(R):5'- GCACACAGCATCACGCC -3'

Posted On

2021-07-15