Mutagenetix > Incidental Mutation

Incidental Mutation 'R1342:Ss18'

156417

Institutional Source

Beutler Lab

Gene Symbol

Ss18

Ensembl Gene

ENSMUSG00000037013

Gene Name

SS18, subunit of BAF chromatin remodeling complex

Synonyms

Ssxt

MMRRC Submission

039407-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1342 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14757255-14815971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14769595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 321 (Y321H)

Ref Sequence

ENSEMBL: ENSMUSP00000089673 (fasta)

Gene Model

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

AlphaFold

Q62280

Predicted Effect

unknown
Transcript: ENSMUST00000040924
AA Change: Y352H

SMART Domains

Protein: ENSMUSP00000046320
Gene: ENSMUSG00000037013
AA Change: Y352H

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: Y278H

SMART Domains

Protein: ENSMUSP00000047867
Gene: ENSMUSG00000037013
AA Change: Y278H

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

unknown
Transcript: ENSMUST00000092041
AA Change: Y321H

SMART Domains

Protein: ENSMUSP00000089673
Gene: ENSMUSG00000037013
AA Change: Y321H

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

Meta Mutation Damage Score

0.0979

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.6%

Validation Efficiency

100% (43/43)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10a	G	T	7: 58,465,894 (GRCm39)		probably benign	Het
B3gnt9	T	C	8: 105,980,956 (GRCm39)	E144G	probably null	Het
Bcl9	G	T	3: 97,113,042 (GRCm39)	Q1138K	possibly damaging	Het
C6	T	C	15: 4,769,231 (GRCm39)		probably benign	Het
Ccl4	A	G	11: 83,554,402 (GRCm39)		probably benign	Het
Cdc73	A	G	1: 143,578,230 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,593,283 (GRCm39)	L1140*	probably null	Het
Chd4	C	A	6: 125,074,151 (GRCm39)	P8Q	probably benign	Het
Col27a1	G	A	4: 63,175,351 (GRCm39)		probably null	Het
Col9a1	G	A	1: 24,262,701 (GRCm39)		probably null	Het
Colgalt1	C	T	8: 72,070,804 (GRCm39)	T232I	probably damaging	Het
Dnah8	A	G	17: 30,939,974 (GRCm39)	D1640G	probably damaging	Het
Dot1l	T	G	10: 80,621,859 (GRCm39)	C504G	probably benign	Het
Gm9892	T	C	8: 52,649,458 (GRCm39)	T212A	probably benign	Het
Hjurp	G	A	1: 88,205,090 (GRCm39)		probably benign	Het
Ifnar2	A	G	16: 91,200,809 (GRCm39)	D350G	possibly damaging	Het
Ift172	T	C	5: 31,419,210 (GRCm39)	I1144V	probably benign	Het
Ipo7	A	T	7: 109,629,011 (GRCm39)	N94Y	possibly damaging	Het
Irag1	T	A	7: 110,487,252 (GRCm39)	M699L	probably benign	Het
Mapkbp1	C	A	2: 119,829,015 (GRCm39)	A57D	possibly damaging	Het
Mmd	T	A	11: 90,167,676 (GRCm39)	I235N	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Palld	A	G	8: 61,975,916 (GRCm39)		probably null	Het
Parp4	G	A	14: 56,827,854 (GRCm39)	E202K	probably damaging	Het
Pclo	C	A	5: 14,732,191 (GRCm39)		probably benign	Het
Pde8a	T	C	7: 80,952,042 (GRCm39)		probably null	Het
Pdgfrb	T	A	18: 61,198,952 (GRCm39)	L370*	probably null	Het
Phf2	A	T	13: 48,957,953 (GRCm39)	S1020R	unknown	Het
Pik3r4	T	A	9: 105,528,100 (GRCm39)		probably null	Het
Plxnb1	C	A	9: 108,929,720 (GRCm39)	P192Q	possibly damaging	Het
Ppil3	A	T	1: 58,480,037 (GRCm39)	I46N	probably damaging	Het
Prr14l	A	C	5: 32,987,604 (GRCm39)	C630W	probably damaging	Het
Rfx5	A	G	3: 94,865,723 (GRCm39)	I341V	probably benign	Het
Ryr3	T	C	2: 112,581,148 (GRCm39)	K2895E	probably damaging	Het
Slc5a12	T	C	2: 110,447,435 (GRCm39)		probably null	Het
Slc8a3	T	C	12: 81,362,790 (GRCm39)	T10A	probably damaging	Het
Sspo	A	G	6: 48,438,569 (GRCm39)	N1546D	probably benign	Het
Thbs4	G	A	13: 92,888,925 (GRCm39)	L923F	probably damaging	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	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
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
R6845:Ss18	UTSW	18	14,788,221 (GRCm39)	missense	possibly damaging	0.80
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'- ATCAACACTATAATGGCAGACTGGGC -3'
(R):5'- TGGCTGTGCATCTTAGAGGGAAAAG -3'

Sequencing Primer
(F):5'- gcacttgccaccaaacc -3'
(R):5'- GCCAAAATCGTTAATTAGGCAGAC -3'

Posted On

2014-02-11