Mutagenetix > Incidental Mutation

Incidental Mutation 'R3825:Ss18l1'

275321

Institutional Source

Beutler Lab

Gene Symbol

Ss18l1

Ensembl Gene

ENSMUSG00000039086

Gene Name

SS18, nBAF chromatin remodeling complex subunit like 1

Synonyms

CREST, A230053O16Rik

MMRRC Submission

040774-MU

Accession Numbers

Essential gene?

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

Stock #

R3825 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179684302-179711994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 179705103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 365 (Q365L)

Ref Sequence

ENSEMBL: ENSMUSP00000041288 (fasta)

Gene Model

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

AlphaFold

Q8BW22

Predicted Effect

unknown
Transcript: ENSMUST00000041126
AA Change: Q365L

SMART Domains

Protein: ENSMUSP00000041288
Gene: ENSMUSG00000039086
AA Change: Q365L

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

Meta Mutation Damage Score

0.1641

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (63/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
Abcb5	C	T	12: 118,865,087 (GRCm39)		probably null	Het
Acot1	G	T	12: 84,061,194 (GRCm39)	G167*	probably null	Het
Agbl1	C	T	7: 76,069,715 (GRCm39)	H164Y	probably damaging	Het
Atp4b	T	C	8: 13,443,549 (GRCm39)	Y43C	probably damaging	Het
Bsn	T	C	9: 107,984,055 (GRCm39)	D3333G	unknown	Het
Ccdc27	A	C	4: 154,120,742 (GRCm39)	D351E	unknown	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Dbndd1	T	A	8: 124,236,731 (GRCm39)	I75F	probably damaging	Het
Dennd5b	T	C	6: 148,946,334 (GRCm39)	K426E	probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Fmo1	T	C	1: 162,678,916 (GRCm39)		probably benign	Het
Foxn2	A	T	17: 88,791,837 (GRCm39)	I236F	probably damaging	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gpr15	A	G	16: 58,538,723 (GRCm39)	F122S	probably damaging	Het
Gvin-ps3	T	C	7: 105,682,780 (GRCm39)	I158M	possibly damaging	Het
Hmcn1	A	T	1: 150,462,716 (GRCm39)	D5140E	probably benign	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Il7	A	G	3: 7,642,226 (GRCm39)		probably benign	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kynu	A	G	2: 43,571,451 (GRCm39)	T456A	probably benign	Het
Lcorl	A	G	5: 45,932,729 (GRCm39)		probably benign	Het
Lrp5	G	A	19: 3,655,290 (GRCm39)	R1077*	probably null	Het
Mab21l2	T	C	3: 86,454,211 (GRCm39)	E263G	possibly damaging	Het
Macf1	T	A	4: 123,338,744 (GRCm39)	D1436V	probably benign	Het
Map4k2	C	A	19: 6,394,081 (GRCm39)	T252N	probably benign	Het
Mterf2	A	T	10: 84,956,147 (GRCm39)	L159Q	probably damaging	Het
Muc5ac	C	A	7: 141,368,460 (GRCm39)	T3063K	possibly damaging	Het
Myo18a	T	A	11: 77,668,292 (GRCm39)	S51T	possibly damaging	Het
Ncoa3	G	T	2: 165,896,718 (GRCm39)	G503V	possibly damaging	Het
Ncor1	A	T	11: 62,264,183 (GRCm39)	H406Q	probably benign	Het
Nectin2	T	C	7: 19,458,510 (GRCm39)	K434E	possibly damaging	Het
Nipal2	A	T	15: 34,578,852 (GRCm39)		probably null	Het
Nub1	G	C	5: 24,912,851 (GRCm39)	S517T	probably benign	Het
Or10a4	T	C	7: 106,696,816 (GRCm39)	L48P	possibly damaging	Het
Or4d10c	A	G	19: 12,065,391 (GRCm39)	V255A	probably damaging	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Plxnb2	G	T	15: 89,050,602 (GRCm39)	N451K	probably benign	Het
Ppp2r2a	A	G	14: 67,259,892 (GRCm39)	L268P	probably damaging	Het
Ptprb	A	T	10: 116,186,694 (GRCm39)	I1743F	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rhot1	G	A	11: 80,116,907 (GRCm39)	V94I	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Smc6	T	A	12: 11,351,517 (GRCm39)		probably benign	Het
Spink8	T	A	9: 109,645,861 (GRCm39)	V11D	probably damaging	Het
Tbc1d31	T	A	15: 57,779,474 (GRCm39)	H62Q	probably benign	Het
Tbc1d9b	T	C	11: 50,061,954 (GRCm39)	V1171A	possibly damaging	Het
Tln1	G	A	4: 43,536,413 (GRCm39)		probably benign	Het
Tmem220	G	A	11: 66,916,077 (GRCm39)	A25T	possibly damaging	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tmod3	A	T	9: 75,414,809 (GRCm39)		probably benign	Het
Tmprss2	A	T	16: 97,398,021 (GRCm39)	Y52N	probably damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Ube2frt	T	C	12: 36,141,036 (GRCm39)		probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn2r76	C	T	7: 85,880,415 (GRCm39)	M90I	probably benign	Het
Zfr	C	T	15: 12,166,277 (GRCm39)	A849V	probably damaging	Het
Znhit6	T	C	3: 145,284,099 (GRCm39)	M95T	probably benign	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
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
R6218:Ss18l1	UTSW	2	179,696,905 (GRCm39)	missense	probably benign	0.00
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'- AGGCCTTCAGTGCTCCATATC -3'
(R):5'- AGTCCCACTTGTTCTTCAGGAC -3'

Sequencing Primer
(F):5'- GCTCCATATCTGTGTGGGCAC -3'
(R):5'- CCACTTGTTCTTCAGGACAGTAAGAG -3'

Posted On

2015-04-02