Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Ss18'

534741

Institutional Source

Beutler Lab

Gene Symbol

Ss18

Ensembl Gene

ENSMUSG00000037013

Gene Name

SS18, subunit of BAF chromatin remodeling complex

Synonyms

Ssxt

MMRRC Submission

044951-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14757255-14815971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14788221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 83 (M83K)

Ref Sequence

ENSEMBL: ENSMUSP00000089673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040924] [ENSMUST00000040964] [ENSMUST00000092041]

AlphaFold

Q62280

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040924
AA Change: M83K

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046320
Gene: ENSMUSG00000037013
AA Change: M83K

Domain	Start	End	E-Value	Type
Pfam:SSXT	13	74	1.1e-34	PFAM
low complexity region	78	99	N/A	INTRINSIC
low complexity region	144	162	N/A	INTRINSIC
low complexity region	192	211	N/A	INTRINSIC
low complexity region	245	264	N/A	INTRINSIC
internal_repeat_1	266	296	3.95e-5	PROSPERO
internal_repeat_1	294	327	3.95e-5	PROSPERO
low complexity region	328	418	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000040964
AA Change: M83K

SMART Domains

Protein: ENSMUSP00000047867
Gene: ENSMUSG00000037013
AA Change: M83K

Domain	Start	End	E-Value	Type
Pfam:SSXT	11	76	8e-38	PFAM
low complexity region	78	99	N/A	INTRINSIC
low complexity region	117	137	N/A	INTRINSIC
low complexity region	171	190	N/A	INTRINSIC
internal_repeat_1	192	222	7.49e-6	PROSPERO
internal_repeat_1	220	253	7.49e-6	PROSPERO
low complexity region	254	344	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092041
AA Change: M83K

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089673
Gene: ENSMUSG00000037013
AA Change: M83K

Domain	Start	End	E-Value	Type
Pfam:SSXT	11	76	9.6e-38	PFAM
low complexity region	78	99	N/A	INTRINSIC
low complexity region	144	162	N/A	INTRINSIC
low complexity region	192	211	N/A	INTRINSIC
low complexity region	245	264	N/A	INTRINSIC
low complexity region	297	387	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

95% (53/56)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in early gestational lethality and embryonic growth arrest with placental failure caused by impaired placental vascularization and chorioallantoic fusion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Duoxa1	A	T	2: 122,135,672 (GRCm39)	Y142*	probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Htra1	C	A	7: 130,538,021 (GRCm39)		probably benign	Het
Il20ra	A	G	10: 19,635,059 (GRCm39)	I433M	probably benign	Het
Il3ra	G	C	14: 14,346,517 (GRCm38)		probably null	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klk1b3	G	A	7: 43,851,127 (GRCm39)	A187T	probably benign	Het
Klre1	T	C	6: 129,561,202 (GRCm39)	S188P	probably damaging	Het
Krtap4-13	G	A	11: 99,700,192 (GRCm39)		probably benign	Het
Lgi4	A	T	7: 30,760,510 (GRCm39)	T22S	probably damaging	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Myh6	G	A	14: 55,182,206 (GRCm39)	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,870,466 (GRCm39)	D73G	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Vps33a	A	G	5: 123,673,335 (GRCm39)	V417A	probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		probably benign	Het

Other mutations in Ss18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03298:Ss18	APN	18	14,812,484 (GRCm39)	missense	possibly damaging	0.77
R0103:Ss18	UTSW	18	14,812,478 (GRCm39)	missense	probably damaging	0.98
R0137:Ss18	UTSW	18	14,788,200 (GRCm39)	missense	probably damaging	0.98
R0685:Ss18	UTSW	18	14,784,238 (GRCm39)	missense	probably damaging	1.00
R1342:Ss18	UTSW	18	14,769,595 (GRCm39)	missense	unknown
R4419:Ss18	UTSW	18	14,766,662 (GRCm39)	missense	unknown
R5274:Ss18	UTSW	18	14,774,106 (GRCm39)	nonsense	probably null
R5604:Ss18	UTSW	18	14,769,577 (GRCm39)	missense	unknown
R6492:Ss18	UTSW	18	14,784,145 (GRCm39)	missense	probably damaging	1.00
R7220:Ss18	UTSW	18	14,812,477 (GRCm39)	missense	probably damaging	1.00
R8754:Ss18	UTSW	18	14,774,016 (GRCm39)	missense	probably damaging	1.00
R8809:Ss18	UTSW	18	14,760,344 (GRCm39)	makesense	probably null
R8992:Ss18	UTSW	18	14,803,380 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCTAAGCAACTCTGGTGTTAATG -3'
(R):5'- CTGCTTTCCAAGGCACTGAAG -3'

Sequencing Primer
(F):5'- AGCAACTCTGGTGTTAATGTCTTAG -3'
(R):5'- CTTTCCAAGGCACTGAAGTTATGAGG -3'

Posted On

2018-09-12