Mutagenetix > Incidental Mutation

Incidental Mutation 'R6492:Ss18'

523021

Institutional Source

Beutler Lab

Gene Symbol

Ss18

Ensembl Gene

ENSMUSG00000037013

Gene Name

SS18, subunit of BAF chromatin remodeling complex

Synonyms

Ssxt

MMRRC Submission

044624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6492 (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 14784145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 181 (M181K)

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: M181K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046320
Gene: ENSMUSG00000037013
AA Change: M181K

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

probably benign
Transcript: ENSMUST00000040964

SMART Domains

Protein: ENSMUSP00000047867
Gene: ENSMUSG00000037013

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

noncoding transcript
Transcript: ENSMUST00000084007

Predicted Effect

probably damaging
Transcript: ENSMUST00000092041
AA Change: M181K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000089673
Gene: ENSMUSG00000037013
AA Change: M181K

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

0.1259

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,631,464 (GRCm39)	T587I	probably benign	Het
Abl1	T	A	2: 31,691,667 (GRCm39)	M1062K	probably benign	Het
Agbl4	G	A	4: 111,404,469 (GRCm39)	D272N	probably damaging	Het
Apob	A	T	12: 8,058,261 (GRCm39)	I2215F	probably damaging	Het
Atp10b	A	T	11: 43,109,784 (GRCm39)	Q821H	probably damaging	Het
Atp1a3	T	C	7: 24,678,729 (GRCm39)	Y971C	probably damaging	Het
Atp6ap1l	A	T	13: 91,031,841 (GRCm39)	H280Q	probably damaging	Het
B4galt2	A	T	4: 117,734,164 (GRCm39)	M291K	probably damaging	Het
Cachd1	G	T	4: 100,809,315 (GRCm39)	V267F	possibly damaging	Het
Cadm2	G	T	16: 66,581,715 (GRCm39)	L188M	probably damaging	Het
Ccn6	C	T	10: 39,030,983 (GRCm39)	G180D	probably benign	Het
Ceacam19	T	C	7: 19,616,517 (GRCm39)	N199S	probably benign	Het
Chrna5	A	G	9: 54,905,347 (GRCm39)	D53G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Cluap1	T	A	16: 3,746,476 (GRCm39)	M279K	probably benign	Het
Cngb1	T	A	8: 95,991,052 (GRCm39)	M717L	probably benign	Het
Cp	T	C	3: 20,036,186 (GRCm39)	V777A	probably benign	Het
Drosha	A	G	15: 12,861,792 (GRCm39)	D594G	probably benign	Het
Exo5	A	G	4: 120,778,734 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gprc5b	A	G	7: 118,583,800 (GRCm39)	I23T	possibly damaging	Het
Ikbke	T	C	1: 131,186,955 (GRCm39)	Y579C	probably damaging	Het
Ikzf2	T	C	1: 69,578,201 (GRCm39)	Y362C	probably damaging	Het
Itfg1	A	G	8: 86,466,978 (GRCm39)	V365A	probably benign	Het
Josd2	T	C	7: 44,120,578 (GRCm39)	I105T	probably damaging	Het
Mc3r	G	A	2: 172,091,074 (GRCm39)	A99T	possibly damaging	Het
Mettl22	T	A	16: 8,306,755 (GRCm39)		probably null	Het
Mgat5	A	G	1: 127,399,301 (GRCm39)	I619V	probably benign	Het
Nin	T	C	12: 70,101,308 (GRCm39)	I430V	probably benign	Het
Or52n2c	C	A	7: 104,574,852 (GRCm39)	A40S	possibly damaging	Het
Or5au1	A	G	14: 52,272,902 (GRCm39)	F222S	probably benign	Het
Or5j3	T	C	2: 86,128,990 (GRCm39)	F277L	probably benign	Het
Or5w22	C	G	2: 87,363,085 (GRCm39)	A236G	possibly damaging	Het
Or8k3	T	A	2: 86,058,731 (GRCm39)	I195F	possibly damaging	Het
Parvb	T	C	15: 84,188,073 (GRCm39)	L272P	probably damaging	Het
Pde2a	A	G	7: 101,149,649 (GRCm39)	K180E	possibly damaging	Het
Pik3c3	C	T	18: 30,457,615 (GRCm39)	T736M	probably damaging	Het
Plcb4	C	T	2: 135,814,991 (GRCm39)	R760*	probably null	Het
Pramel6	C	T	2: 87,340,766 (GRCm39)	T366I	probably benign	Het
Prr29	C	T	11: 106,266,062 (GRCm39)	R42W	probably damaging	Het
Prss12	A	G	3: 123,241,048 (GRCm39)	I81V	probably benign	Het
Ptpn13	A	G	5: 103,649,478 (GRCm39)	T294A	probably benign	Het
Ptprc	A	T	1: 138,041,300 (GRCm39)		probably null	Het
Sin3b	T	A	8: 73,460,118 (GRCm39)		probably null	Het
Slco5a1	T	C	1: 13,060,151 (GRCm39)	Y190C	probably damaging	Het
Slco6c1	T	G	1: 97,053,538 (GRCm39)	Y121S	probably damaging	Het
Srcap	G	T	7: 127,121,317 (GRCm39)	G217*	probably null	Het
Synm	T	C	7: 67,385,809 (GRCm39)	T176A	probably benign	Het
Taf3	T	C	2: 9,955,971 (GRCm39)	E579G	probably damaging	Het
Taf7	A	G	18: 37,776,159 (GRCm39)	I136T	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tyrp1	A	G	4: 80,759,018 (GRCm39)	D297G	probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Wwp1	G	A	4: 19,650,299 (GRCm39)	S289L	possibly damaging	Het
Xbp1	T	C	11: 5,471,005 (GRCm39)	V4A	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb2	T	C	10: 4,319,711 (GRCm39)	Y105C	probably damaging	Het
Zeb2	T	C	2: 45,000,508 (GRCm39)		probably benign	Het
Zkscan8	A	T	13: 21,709,397 (GRCm39)	I167N	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
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'- TGAGTGATGAGCTACCCGTG -3'
(R):5'- ACTTGTACCATGCACCTCCG -3'

Sequencing Primer
(F):5'- ATGAGCTACCCGTGGGCTAC -3'
(R):5'- GTACCATGCACCTCCGTAACTCTG -3'

Posted On

2018-06-06