Mutagenetix > Incidental Mutation

Incidental Mutation 'R8992:Ss18'

684509

Institutional Source

Beutler Lab

Gene Symbol

Ss18

Ensembl Gene

ENSMUSG00000037013

Gene Name

SS18, subunit of BAF chromatin remodeling complex

Synonyms

Ssxt

MMRRC Submission

068823-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8992 (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 14803380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 73 (S73T)

Ref Sequence

ENSEMBL: ENSMUSP00000046320 (fasta)

Gene Model

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

AlphaFold

Q62280

Predicted Effect

probably damaging
Transcript: ENSMUST00000040924
AA Change: S73T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046320
Gene: ENSMUSG00000037013
AA Change: S73T

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: S73T

SMART Domains

Protein: ENSMUSP00000047867
Gene: ENSMUSG00000037013
AA Change: S73T

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

probably benign
Transcript: ENSMUST00000092041
AA Change: S73T

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000089673
Gene: ENSMUSG00000037013
AA Change: S73T

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: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	A	G	9: 106,328,817 (GRCm39)	D146G	probably benign	Het
Abhd6	T	A	14: 8,028,282 (GRCm38)	D4E	probably benign	Het
Atp5if1	T	C	4: 132,260,685 (GRCm39)	D34G	probably benign	Het
Bcr	T	C	10: 74,967,404 (GRCm39)	F546S	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc141	A	T	2: 76,844,739 (GRCm39)	W1443R	probably damaging	Het
Chd7	A	G	4: 8,839,589 (GRCm39)	D1375G	probably damaging	Het
Chi3l1	A	T	1: 134,115,662 (GRCm39)	Q223H	probably benign	Het
Clcn2	A	T	16: 20,531,080 (GRCm39)	F260I	probably damaging	Het
Cpq	A	T	15: 33,594,381 (GRCm39)	D464V	probably benign	Het
Crygb	T	C	1: 65,121,300 (GRCm39)	D9G	probably damaging	Het
Cyp2b10	A	G	7: 25,624,815 (GRCm39)	K438E	unknown	Het
Cyp46a1	A	T	12: 108,324,366 (GRCm39)	D381V	possibly damaging	Het
Dhx40	A	C	11: 86,667,582 (GRCm39)		probably benign	Het
Dnase2b	G	T	3: 146,292,717 (GRCm39)	P152Q	probably damaging	Het
Duox1	A	T	2: 122,175,186 (GRCm39)	H1328L	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fam168b	A	G	1: 34,858,862 (GRCm39)	F102L	probably benign	Het
Fam3b	T	A	16: 97,277,594 (GRCm39)	D128V	probably damaging	Het
Galnt11	T	G	5: 25,469,983 (GRCm39)	H527Q	possibly damaging	Het
Gbp2b	A	T	3: 142,316,730 (GRCm39)	R460S	probably benign	Het
Hdhd2	A	C	18: 77,058,366 (GRCm39)	S246R	possibly damaging	Het
Heatr1	T	C	13: 12,415,995 (GRCm39)	M189T	probably damaging	Het
Ift70a1	A	T	2: 75,810,251 (GRCm39)	C611S	probably benign	Het
Ino80	A	G	2: 119,210,059 (GRCm39)	S1411P	possibly damaging	Het
Jakmip1	A	G	5: 37,274,882 (GRCm39)	T467A	probably benign	Het
Kcnh2	A	G	5: 24,536,868 (GRCm39)	S239P	probably benign	Het
Lct	T	A	1: 128,228,299 (GRCm39)	T1065S	probably damaging	Het
Lrrc66	T	C	5: 73,787,227 (GRCm39)	D41G	probably benign	Het
Mfsd2b	A	T	12: 4,921,490 (GRCm39)	D26E	probably benign	Het
Myh1	A	T	11: 67,096,607 (GRCm39)	M333L	probably benign	Het
Neurl4	T	C	11: 69,798,958 (GRCm39)	V855A	possibly damaging	Het
Nfkb2	T	A	19: 46,295,304 (GRCm39)	V80D	probably damaging	Het
Nop9	T	C	14: 55,983,438 (GRCm39)	S70P	possibly damaging	Het
Or2t46	A	G	11: 58,471,738 (GRCm39)	S23G	probably benign	Het
Pcdhb14	G	T	18: 37,582,231 (GRCm39)	D446Y	probably damaging	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Pdgfa	G	T	5: 138,971,977 (GRCm39)	Q141K	probably damaging	Het
Plekhh1	G	T	12: 79,122,307 (GRCm39)	L1133F	probably damaging	Het
Pole	A	T	5: 110,471,488 (GRCm39)	N1411Y	possibly damaging	Het
Primpol	A	G	8: 47,034,597 (GRCm39)		probably benign	Het
Psmc5	T	G	11: 106,152,787 (GRCm39)	V203G	probably damaging	Het
Ptgdr	C	T	14: 45,096,181 (GRCm39)	C177Y	probably damaging	Het
Ptgir	A	T	7: 16,641,220 (GRCm39)	I171F	probably damaging	Het
Ptprg	T	A	14: 12,154,170 (GRCm38)	H630Q	probably benign	Het
Ptrh2	A	G	11: 86,580,907 (GRCm39)	T175A	possibly damaging	Het
Ralgapb	A	G	2: 158,296,197 (GRCm39)	T857A	probably damaging	Het
Rnf24	A	G	2: 131,155,197 (GRCm39)	F10S	possibly damaging	Het
Rreb1	C	A	13: 38,114,352 (GRCm39)	S570R	probably benign	Het
Rttn	A	G	18: 88,995,832 (GRCm39)	N205S	probably benign	Het
Rusc1	T	C	3: 88,999,365 (GRCm39)	E139G	probably benign	Het
Scn2a	A	G	2: 65,594,242 (GRCm39)	N1697S	probably damaging	Het
Serpinb3a	T	A	1: 106,974,907 (GRCm39)	M209L	probably damaging	Het
Shank3	A	G	15: 89,432,888 (GRCm39)	D1211G	possibly damaging	Het
Slc22a12	C	A	19: 6,592,514 (GRCm39)	R90L	possibly damaging	Het
Slc6a13	G	A	6: 121,313,901 (GRCm39)	W548*	probably null	Het
Srfbp1	T	A	18: 52,609,392 (GRCm39)	L59*	probably null	Het
Syne1	T	C	10: 5,135,508 (GRCm39)	K189R	probably benign	Het
Szt2	G	T	4: 118,239,985 (GRCm39)		probably benign	Het
Tbx1	T	A	16: 18,402,937 (GRCm39)	H183L	probably damaging	Het
Thop1	A	G	10: 80,915,972 (GRCm39)	E385G	possibly damaging	Het
Tmem168	C	A	6: 13,602,849 (GRCm39)	M172I	possibly damaging	Het
Tmem67	A	G	4: 12,058,559 (GRCm39)	Y513H	probably damaging	Het
Top1	A	G	2: 160,562,921 (GRCm39)	D709G	probably damaging	Het
Tprg1l	A	C	4: 154,242,890 (GRCm39)	S247A	probably damaging	Het
Trim46	A	G	3: 89,143,692 (GRCm39)	S602P	probably damaging	Het
Ttc7b	T	C	12: 100,466,433 (GRCm39)	K60E	probably benign	Het
Ttn	G	A	2: 76,714,815 (GRCm39)	S8053F	unknown	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp24	T	A	4: 106,234,762 (GRCm39)	H956Q	probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Xpc	G	A	6: 91,477,956 (GRCm39)	T309I	possibly damaging	Het
Zfp560	C	T	9: 20,260,895 (GRCm39)	M129I	probably benign	Het
Zpld2	G	A	4: 133,929,978 (GRCm39)	T109I	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CAGGCACATTAGCAACTTACTC -3'
(R):5'- CGCGCTCCATTACCTTAAATG -3'

Sequencing Primer
(F):5'- CAACAGGGAGCATTTGG -3'
(R):5'- GTTGAAGTGCTATTGATACACAGG -3'

Posted On

2021-10-11