Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Ssx2ip'

390693

Institutional Source

Beutler Lab

Gene Symbol

Ssx2ip

Ensembl Gene

ENSMUSG00000036825

Gene Name

SSX family member 2 interacting protein

Synonyms

Adip

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146110397-146145899 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 146136672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039021] [ENSMUST00000106149] [ENSMUST00000106151] [ENSMUST00000106153]

AlphaFold

Q8VC66

Predicted Effect

probably benign
Transcript: ENSMUST00000039021

SMART Domains

Protein: ENSMUSP00000045663
Gene: ENSMUSG00000036825

Domain	Start	End	E-Value	Type
Pfam:ADIP	63	214	8.5e-51	PFAM
coiled coil region	266	291	N/A	INTRINSIC
coiled coil region	374	411	N/A	INTRINSIC
low complexity region	425	435	N/A	INTRINSIC
Blast:LPD_N	439	480	3e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106149

SMART Domains

Protein: ENSMUSP00000101755
Gene: ENSMUSG00000036825

Domain	Start	End	E-Value	Type
Pfam:ADIP	63	214	8.5e-51	PFAM
coiled coil region	266	291	N/A	INTRINSIC
coiled coil region	374	411	N/A	INTRINSIC
low complexity region	425	435	N/A	INTRINSIC
Blast:LPD_N	439	480	3e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106151

SMART Domains

Protein: ENSMUSP00000101757
Gene: ENSMUSG00000036825

Domain	Start	End	E-Value	Type
Pfam:ADIP	63	214	8.5e-51	PFAM
coiled coil region	266	291	N/A	INTRINSIC
coiled coil region	374	411	N/A	INTRINSIC
low complexity region	425	435	N/A	INTRINSIC
Blast:LPD_N	439	480	3e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106153

SMART Domains

Protein: ENSMUSP00000101759
Gene: ENSMUSG00000036825

Domain	Start	End	E-Value	Type
Pfam:ADIP	63	214	1.2e-47	PFAM
coiled coil region	266	291	N/A	INTRINSIC
coiled coil region	374	410	N/A	INTRINSIC
low complexity region	426	436	N/A	INTRINSIC
Blast:LPD_N	440	481	3e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141103

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,837,315 (GRCm39)	Y257H	probably damaging	Het
Adam28	C	T	14: 68,855,164 (GRCm39)	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 26,991,732 (GRCm39)	E627K	probably damaging	Het
Atad5	T	A	11: 79,985,502 (GRCm39)	S196R	probably benign	Het
Bcam	T	A	7: 19,490,785 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,962,320 (GRCm39)	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,804,471 (GRCm39)	I190V	probably benign	Het
Ccdc8	T	C	7: 16,728,970 (GRCm39)	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,540,529 (GRCm39)	R68G	probably damaging	Het
Dock3	T	C	9: 106,815,105 (GRCm39)	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007 (GRCm39)	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,700,318 (GRCm39)	V271L	possibly damaging	Het
Eif1ad15	T	C	12: 88,288,071 (GRCm39)	I61V	probably benign	Het
Eif2s2	A	C	2: 154,734,590 (GRCm39)		probably null	Het
Fndc7	A	G	3: 108,788,663 (GRCm39)	S193P	probably damaging	Het
Fzr1	G	A	10: 81,207,253 (GRCm39)		probably benign	Het
Gm17472	T	C	6: 42,957,938 (GRCm39)	I69T	probably damaging	Het
Gmppa	C	A	1: 75,416,015 (GRCm39)	Y137*	probably null	Het
Gpr45	A	G	1: 43,071,809 (GRCm39)	I151V	probably benign	Het
H1f0	G	A	15: 78,912,973 (GRCm39)	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,491,063 (GRCm39)	V114I	probably benign	Het
Impa2	C	A	18: 67,439,797 (GRCm39)	P98Q	probably damaging	Het
Kazn	T	C	4: 141,835,957 (GRCm39)	N573D	unknown	Het
Kcna2	A	T	3: 107,011,656 (GRCm39)	D79V	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kif13a	A	G	13: 46,956,122 (GRCm39)	Y561H	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klra1	T	A	6: 130,352,247 (GRCm39)	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,570,869 (GRCm39)	R318S	probably damaging	Het
Mgat4d	G	A	8: 84,094,837 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,641,312 (GRCm39)		probably null	Het
Nostrin	A	T	2: 69,006,057 (GRCm39)	Q247L	possibly damaging	Het
Obi1	C	T	14: 104,745,466 (GRCm39)	G70E	probably damaging	Het
Obscn	T	C	11: 58,964,443 (GRCm39)	E3033G	probably damaging	Het
Pam	C	A	1: 97,749,642 (GRCm39)	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,795,157 (GRCm39)	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337 (GRCm39)	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ptar1	G	T	19: 23,671,729 (GRCm39)	R44L	probably damaging	Het
Rad51c	T	C	11: 87,288,580 (GRCm39)	H201R	probably benign	Het
Rims2	A	T	15: 39,381,265 (GRCm39)		probably null	Het
Rpl22l1	T	G	3: 28,860,985 (GRCm39)	S67A	possibly damaging	Het
Rps10	A	G	17: 27,849,454 (GRCm39)	S143P	probably damaging	Het
Rundc1	T	C	11: 101,315,967 (GRCm39)	V13A	probably benign	Het
Sephs2	C	A	7: 126,872,564 (GRCm39)	M176I	probably benign	Het
Serpina16	C	T	12: 103,641,189 (GRCm39)	V179I	probably benign	Het
Serpini2	T	A	3: 75,166,784 (GRCm39)	T158S	probably damaging	Het
Slc12a3	A	G	8: 95,072,979 (GRCm39)	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,650,436 (GRCm39)	E558G	probably damaging	Het
Tbr1	A	T	2: 61,636,346 (GRCm39)	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,247,064 (GRCm39)		probably null	Het
Tlr12	T	A	4: 128,511,063 (GRCm39)	K396*	probably null	Het
Tmppe	A	G	9: 114,235,026 (GRCm39)	I442V	probably benign	Het
Tubb3	T	C	8: 124,147,607 (GRCm39)	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,416,901 (GRCm39)	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,671,708 (GRCm39)	V482L	possibly damaging	Het
Zfp184	G	T	13: 22,143,452 (GRCm39)	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,192,792 (GRCm39)	V270E	probably damaging	Het
Zfp985	A	T	4: 147,667,438 (GRCm39)	Y102F	probably damaging	Het

Other mutations in Ssx2ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Ssx2ip	APN	3	146,142,307 (GRCm39)	missense	probably damaging	1.00
IGL01140:Ssx2ip	APN	3	146,133,598 (GRCm39)	missense	probably benign	0.02
IGL01810:Ssx2ip	APN	3	146,133,765 (GRCm39)	missense	probably benign	0.00
BB004:Ssx2ip	UTSW	3	146,138,365 (GRCm39)	missense	probably damaging	1.00
BB014:Ssx2ip	UTSW	3	146,138,365 (GRCm39)	missense	probably damaging	1.00
R0432:Ssx2ip	UTSW	3	146,132,184 (GRCm39)	missense	probably damaging	1.00
R0903:Ssx2ip	UTSW	3	146,136,732 (GRCm39)	missense	probably benign
R2228:Ssx2ip	UTSW	3	146,123,531 (GRCm39)	missense	probably damaging	0.98
R3151:Ssx2ip	UTSW	3	146,124,138 (GRCm39)	missense	probably benign	0.00
R4348:Ssx2ip	UTSW	3	146,138,245 (GRCm39)	missense	probably benign	0.01
R4446:Ssx2ip	UTSW	3	146,132,186 (GRCm39)	missense	probably benign	0.31
R4796:Ssx2ip	UTSW	3	146,124,114 (GRCm39)	missense	probably benign	0.00
R5338:Ssx2ip	UTSW	3	146,142,296 (GRCm39)	critical splice acceptor site	probably null
R5520:Ssx2ip	UTSW	3	146,143,066 (GRCm39)	missense	probably benign	0.03
R5898:Ssx2ip	UTSW	3	146,133,586 (GRCm39)	missense	possibly damaging	0.94
R6367:Ssx2ip	UTSW	3	146,124,921 (GRCm39)	missense	probably benign	0.16
R6777:Ssx2ip	UTSW	3	146,144,476 (GRCm39)	missense	possibly damaging	0.88
R7082:Ssx2ip	UTSW	3	146,136,703 (GRCm39)	missense	probably benign	0.01
R7239:Ssx2ip	UTSW	3	146,133,771 (GRCm39)	missense	probably damaging	1.00
R7249:Ssx2ip	UTSW	3	146,132,193 (GRCm39)	missense	possibly damaging	0.81
R7772:Ssx2ip	UTSW	3	146,138,885 (GRCm39)	missense	probably damaging	0.99
R7927:Ssx2ip	UTSW	3	146,138,365 (GRCm39)	missense	probably damaging	1.00
R7935:Ssx2ip	UTSW	3	146,124,928 (GRCm39)	missense	probably benign	0.00
R8011:Ssx2ip	UTSW	3	146,128,666 (GRCm39)	missense	probably damaging	0.97
R8540:Ssx2ip	UTSW	3	146,124,114 (GRCm39)	missense	probably benign	0.00
R9050:Ssx2ip	UTSW	3	146,144,512 (GRCm39)	missense	possibly damaging	0.51
R9264:Ssx2ip	UTSW	3	146,142,955 (GRCm39)	missense	probably benign	0.00
R9775:Ssx2ip	UTSW	3	146,136,808 (GRCm39)	missense	probably benign	0.02
RF004:Ssx2ip	UTSW	3	146,132,195 (GRCm39)	nonsense	probably null
Z1177:Ssx2ip	UTSW	3	146,133,902 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGTATTCAGCACAGTATTGC -3'
(R):5'- TGCTGTTCCTGGGACTGAAC -3'

Sequencing Primer
(F):5'- TATTGCATAGACAGGGGCTGCC -3'
(R):5'- AGCACCCCCTCTGCATG -3'

Posted On

2016-06-06