Mutagenetix > Incidental Mutation

Incidental Mutation 'R7249:Ssx2ip'

563743

Institutional Source

Beutler Lab

Gene Symbol

Ssx2ip

Ensembl Gene

ENSMUSG00000036825

Gene Name

SSX family member 2 interacting protein

Synonyms

Adip

MMRRC Submission

045312-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146110397-146145899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146132193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 218 (N218S)

Ref Sequence

ENSEMBL: ENSMUSP00000101759 (fasta)

Gene Model

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

AlphaFold

Q8VC66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039021
AA Change: N218S

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045663
Gene: ENSMUSG00000036825
AA Change: N218S

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

possibly damaging
Transcript: ENSMUST00000106149
AA Change: N218S

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101755
Gene: ENSMUSG00000036825
AA Change: N218S

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

possibly damaging
Transcript: ENSMUST00000106151
AA Change: N218S

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101757
Gene: ENSMUSG00000036825
AA Change: N218S

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

possibly damaging
Transcript: ENSMUST00000106153
AA Change: N218S

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101759
Gene: ENSMUSG00000036825
AA Change: N218S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,974,970 (GRCm39)	T38A	probably benign	Het
3425401B19Rik	G	T	14: 32,385,271 (GRCm39)	S231R	possibly damaging	Het
Abi1	T	C	2: 22,847,101 (GRCm39)	E250G	possibly damaging	Het
Actl6b	T	A	5: 137,553,347 (GRCm39)	S120T	probably damaging	Het
Adgrv1	G	A	13: 81,522,378 (GRCm39)	H5920Y	probably damaging	Het
Adra2c	G	A	5: 35,438,299 (GRCm39)	R357H	probably damaging	Het
Ap3d1	T	C	10: 80,577,767 (GRCm39)	D20G	probably damaging	Het
Arfgef3	A	T	10: 18,506,583 (GRCm39)	D847E	possibly damaging	Het
Cacna1d	T	C	14: 29,864,660 (GRCm39)	E434G	probably damaging	Het
Carm1	T	C	9: 21,497,505 (GRCm39)	Y356H	probably benign	Het
Clip1	T	C	5: 123,741,663 (GRCm39)	K1075R	probably damaging	Het
Cyp27b1	G	T	10: 126,886,918 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,113,885 (GRCm39)	V1769D	possibly damaging	Het
Dchs2	C	T	3: 83,035,336 (GRCm39)	Q28*	probably null	Het
Dpp4	A	G	2: 62,215,547 (GRCm39)	F107L	probably benign	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,739,935 (GRCm39)		probably benign	Het
Faap24	A	G	7: 35,094,485 (GRCm39)	V105A	probably benign	Het
Gabra6	A	T	11: 42,208,259 (GRCm39)	D166E	probably damaging	Het
Gfpt1	A	G	6: 87,033,126 (GRCm39)	E117G	probably damaging	Het
H2-T10	T	C	17: 36,430,269 (GRCm39)	D224G	probably damaging	Het
Hspa12a	T	A	19: 58,793,865 (GRCm39)	E332V	probably benign	Het
Htr5b	T	A	1: 121,438,203 (GRCm39)	N343Y	probably damaging	Het
Irf8	C	A	8: 121,466,571 (GRCm39)	N5K	possibly damaging	Het
Itgb1	C	A	8: 129,446,885 (GRCm39)	Q467K	probably benign	Het
Itpr2	C	A	6: 146,212,550 (GRCm39)	C1522F	probably damaging	Het
Jmjd1c	T	A	10: 67,025,596 (GRCm39)	L138I	probably benign	Het
Lrrc8b	G	T	5: 105,629,133 (GRCm39)	R493L	probably benign	Het
Malrd1	G	T	2: 15,628,151 (GRCm39)	C400F	probably damaging	Het
Marchf8	G	A	6: 116,383,195 (GRCm39)	E257K	probably benign	Het
Mastl	G	A	2: 23,036,151 (GRCm39)	H122Y	probably damaging	Het
Mis18a	T	C	16: 90,523,202 (GRCm39)	K98R	possibly damaging	Het
Msra	A	G	14: 64,678,212 (GRCm39)	V28A	probably benign	Het
Mtmr7	A	G	8: 41,043,520 (GRCm39)	V177A	probably benign	Het
Nelfcd	T	C	2: 174,264,999 (GRCm39)		probably null	Het
Nemp1	T	C	10: 127,529,395 (GRCm39)	S226P	probably damaging	Het
Nmnat1	G	A	4: 149,554,099 (GRCm39)	T147I	probably null	Het
Ntng2	A	G	2: 29,118,004 (GRCm39)	V148A	probably benign	Het
Nup214	A	G	2: 31,878,245 (GRCm39)	H304R	possibly damaging	Het
Or4a2	T	C	2: 89,248,217 (GRCm39)	Y180C	probably damaging	Het
Phldb2	C	A	16: 45,621,977 (GRCm39)	A623S	probably damaging	Het
Pitrm1	C	T	13: 6,610,161 (GRCm39)	T411I	probably damaging	Het
Pkn3	G	A	2: 29,974,773 (GRCm39)	R429Q	probably benign	Het
Plcb4	A	G	2: 135,849,741 (GRCm39)		probably null	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pnp	G	A	14: 51,188,887 (GRCm39)	V227I	probably benign	Het
Pskh1	T	C	8: 106,639,886 (GRCm39)	S189P	possibly damaging	Het
Rbpms2	T	G	9: 65,556,632 (GRCm39)	V24G	probably damaging	Het
Robo3	T	A	9: 37,336,129 (GRCm39)	I446L	probably benign	Het
Septin8	A	T	11: 53,425,949 (GRCm39)	K174I	probably damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Slco4a1	A	G	2: 180,106,604 (GRCm39)	Y262C	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spidr	T	C	16: 15,784,512 (GRCm39)	S519G	probably benign	Het
Svil	T	C	18: 5,056,270 (GRCm39)	V381A	probably benign	Het
Svil	T	C	18: 5,062,247 (GRCm39)	S769P	probably damaging	Het
Tep1	A	T	14: 51,061,732 (GRCm39)	C2595S	possibly damaging	Het
Tiam1	T	C	16: 89,640,143 (GRCm39)	Y858C	probably damaging	Het
Tie1	A	G	4: 118,343,425 (GRCm39)	V146A	probably benign	Het
Traf3ip1	G	T	1: 91,455,361 (GRCm39)	E578D	probably damaging	Het
Trim23	A	G	13: 104,324,663 (GRCm39)	Y247C	probably damaging	Het
Tsc2	A	G	17: 24,826,729 (GRCm39)	W896R	probably damaging	Het
Vmn1r157	T	C	7: 22,461,125 (GRCm39)	S2P	probably benign	Het
Xkr4	T	A	1: 3,287,033 (GRCm39)	T386S	probably damaging	Het
Zdhhc24	T	G	19: 4,928,889 (GRCm39)	V38G	possibly 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
R5054:Ssx2ip	UTSW	3	146,136,672 (GRCm39)	splice site	probably benign
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
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'- TCATCATGTGGGAGCATGGG -3'
(R):5'- CTGACCAAAAGGACTCAATGTTTTG -3'

Sequencing Primer
(F):5'- GGGACTAGGGCTTGTTTAACC -3'
(R):5'- TGTTTTGTTTTGCAAATCAGCTC -3'

Posted On

2019-06-26