Mutagenetix > Incidental Mutation

Incidental Mutation 'R7510:Tssc4'

582033

Institutional Source

Beutler Lab

Gene Symbol

Tssc4

Ensembl Gene

ENSMUSG00000045752

Gene Name

tumor-suppressing subchromosomal transferable fragment 4

Synonyms

ESTM671070

MMRRC Submission

045583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7510 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142622986-142624830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142623718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 9 (E9K)

Ref Sequence

ENSEMBL: ENSMUSP00000056582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009390] [ENSMUST00000037941] [ENSMUST00000060433] [ENSMUST00000105920] [ENSMUST00000133410] [ENSMUST00000137856] [ENSMUST00000141954] [ENSMUST00000147995] [ENSMUST00000150867] [ENSMUST00000177841] [ENSMUST00000207448] [ENSMUST00000208779]

AlphaFold

Q9JHE7

Predicted Effect

probably benign
Transcript: ENSMUST00000009390

SMART Domains

Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246

Domain	Start	End	E-Value	Type
Blast:ANK	382	411	2e-6	BLAST
transmembrane domain	644	666	N/A	INTRINSIC
Pfam:Ion_trans	736	989	1.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000037941

SMART Domains

Protein: ENSMUSP00000043768
Gene: ENSMUSG00000037706

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	230	9.1e-47	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060433
AA Change: E9K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056582
Gene: ENSMUSG00000045752
AA Change: E9K

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
Pfam:TSSC4	91	207	3.9e-43	PFAM
low complexity region	232	250	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105920
AA Change: E9K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101540
Gene: ENSMUSG00000045752
AA Change: E9K

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133410
AA Change: E78K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123499
Gene: ENSMUSG00000045752
AA Change: E78K

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
low complexity region	85	106	N/A	INTRINSIC
low complexity region	124	138	N/A	INTRINSIC
Pfam:TSSC4	159	266	5.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136602

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137856
AA Change: E9K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123353
Gene: ENSMUSG00000045752
AA Change: E9K

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
Pfam:TSSC4	90	209	1.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141954

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147995
AA Change: E9K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122335
Gene: ENSMUSG00000045752
AA Change: E9K

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
Pfam:TSSC4	90	196	4.8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148715

Predicted Effect

probably benign
Transcript: ENSMUST00000150867

SMART Domains

Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246

Domain	Start	End	E-Value	Type
Blast:ANK	382	411	2e-6	BLAST
transmembrane domain	644	666	N/A	INTRINSIC
transmembrane domain	731	753	N/A	INTRINSIC
transmembrane domain	811	833	N/A	INTRINSIC
transmembrane domain	872	894	N/A	INTRINSIC
transmembrane domain	952	974	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177841
AA Change: E9K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137399
Gene: ENSMUSG00000045752
AA Change: E9K

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
Pfam:TSSC4	90	210	1.7e-34	PFAM
low complexity region	232	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207448

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208779
AA Change: E9K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the pan-hematopoietic expression gene (PHEMX), escapes imprinting. This gene may play a role in malignancies and disease that involve this region. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b1	C	T	10: 98,829,758 (GRCm39)	R320C	probably benign	Het
Bend4	A	G	5: 67,584,727 (GRCm39)	F66L	unknown	Het
Brca2	T	C	5: 150,460,156 (GRCm39)	V477A	possibly damaging	Het
Brms1l	A	T	12: 55,892,107 (GRCm39)	K134*	probably null	Het
Catsper1	A	T	19: 5,389,578 (GRCm39)	T498S	probably benign	Het
Ccdc177	C	A	12: 80,804,457 (GRCm39)	V606L	unknown	Het
D030056L22Rik	G	T	19: 18,690,853 (GRCm39)	A56S	possibly damaging	Het
Disp1	T	C	1: 182,869,975 (GRCm39)	N815S	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fancf	A	G	7: 51,511,953 (GRCm39)	V17A	probably damaging	Het
Fastkd2	T	A	1: 63,776,948 (GRCm39)	H361Q	possibly damaging	Het
Furin	A	G	7: 80,043,333 (GRCm39)	S293P	probably damaging	Het
Ghsr	A	T	3: 27,426,523 (GRCm39)	D193V	probably benign	Het
Gm14403	T	A	2: 177,200,403 (GRCm39)	N116K	probably benign	Het
Gpr31b	A	G	17: 13,270,557 (GRCm39)	L204P	probably damaging	Het
Hexim1	A	G	11: 103,008,067 (GRCm39)	E107G	probably benign	Het
Hspa14	T	C	2: 3,499,159 (GRCm39)	S212G	probably benign	Het
Il18r1	T	A	1: 40,514,035 (GRCm39)	H80Q	probably benign	Het
Itpr3	A	G	17: 27,308,013 (GRCm39)	T267A	probably damaging	Het
Kidins220	T	A	12: 25,042,268 (GRCm39)	H146Q	possibly damaging	Het
Larp4	T	C	15: 99,891,258 (GRCm39)	F228L	probably benign	Het
Ltbp1	T	A	17: 75,659,712 (GRCm39)	V1288E	probably damaging	Het
Madd	T	C	2: 91,008,321 (GRCm39)	T194A	possibly damaging	Het
Mlana	G	A	19: 29,682,072 (GRCm39)	G42S	probably benign	Het
Mlxipl	A	G	5: 135,161,972 (GRCm39)	E548G	possibly damaging	Het
Mmab	A	T	5: 114,573,283 (GRCm39)	C228S	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nrf1	C	T	6: 30,151,633 (GRCm39)	T490I	possibly damaging	Het
Numbl	A	G	7: 26,971,412 (GRCm39)		probably null	Het
Or12e13	T	A	2: 87,663,872 (GRCm39)	I163K	probably damaging	Het
Or13c7	A	G	4: 43,854,482 (GRCm39)	T58A	probably benign	Het
Or5bw2	C	T	7: 6,572,960 (GRCm39)		probably benign	Het
Or5v1b	T	A	17: 37,841,480 (GRCm39)	I204N	probably damaging	Het
Or6c3b	G	T	10: 129,527,789 (GRCm39)	N40K	probably damaging	Het
Or9g8	T	A	2: 85,607,153 (GRCm39)	V75D	probably damaging	Het
Papln	G	A	12: 83,818,947 (GRCm39)	D96N	probably damaging	Het
Pcdhb14	T	C	18: 37,582,645 (GRCm39)	Y584H	probably damaging	Het
Pde7b	T	C	10: 20,288,761 (GRCm39)	D310G	possibly damaging	Het
Plin5	T	A	17: 56,420,975 (GRCm39)	H230L	probably damaging	Het
Ppp1r13l	A	C	7: 19,102,726 (GRCm39)	E47A	possibly damaging	Het
Prdm5	C	T	6: 65,904,976 (GRCm39)	H536Y	probably damaging	Het
Prickle2	T	C	6: 92,353,451 (GRCm39)	R728G	possibly damaging	Het
Prkca	A	T	11: 107,874,820 (GRCm39)	V374E	possibly damaging	Het
Prss3	A	T	6: 41,352,044 (GRCm39)	L73*	probably null	Het
Prss51	G	A	14: 64,333,489 (GRCm39)	D33N	probably damaging	Het
Rfwd3	A	G	8: 112,006,659 (GRCm39)	V479A	probably damaging	Het
Rpl36a-ps1	G	A	14: 99,231,666 (GRCm39)	T24I	probably benign	Het
Rps6ka5	T	C	12: 100,582,327 (GRCm39)	I182V	possibly damaging	Het
Saa2	T	A	7: 46,402,933 (GRCm39)	D61E	probably damaging	Het
Samd3	A	T	10: 26,106,006 (GRCm39)	I22F	probably benign	Het
Sap130	C	T	18: 31,800,057 (GRCm39)	P403L	probably damaging	Het
Sap130	A	G	18: 31,844,268 (GRCm39)	T813A	probably damaging	Het
Scfd2	A	G	5: 74,372,988 (GRCm39)	F629S	probably damaging	Het
Sec61a1	A	T	6: 88,489,585 (GRCm39)	F119I	probably benign	Het
Serpinb9	T	A	13: 33,194,768 (GRCm39)	F175I	probably damaging	Het
Slc12a3	G	T	8: 95,092,477 (GRCm39)	C966F	probably damaging	Het
Sptbn4	A	G	7: 27,127,693 (GRCm39)	V169A	probably benign	Het
Synj1	A	G	16: 90,735,565 (GRCm39)	S1463P	probably benign	Het
Tfec	T	A	6: 16,835,232 (GRCm39)	H182L	probably benign	Het
Tigd5	T	C	15: 75,782,268 (GRCm39)	V210A	probably benign	Het
Txk	C	G	5: 72,893,726 (GRCm39)	C18S	unknown	Het
Uaca	G	A	9: 60,757,487 (GRCm39)		probably null	Het
Vmn2r1	A	C	3: 63,993,922 (GRCm39)	K89N	probably damaging	Het
Zfp160	G	A	17: 21,246,655 (GRCm39)	E402K	probably benign	Het

Other mutations in Tssc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02166:Tssc4	APN	7	142,623,938 (GRCm39)	missense	probably benign	0.41
R0582:Tssc4	UTSW	7	142,624,246 (GRCm39)	missense	probably damaging	0.97
R0655:Tssc4	UTSW	7	142,623,782 (GRCm39)	missense	probably damaging	0.99
R1447:Tssc4	UTSW	7	142,623,892 (GRCm39)	missense	probably benign	0.08
R1889:Tssc4	UTSW	7	142,624,292 (GRCm39)	missense	probably damaging	1.00
R4677:Tssc4	UTSW	7	142,624,246 (GRCm39)	missense	probably damaging	1.00
R4903:Tssc4	UTSW	7	142,624,322 (GRCm39)	missense	probably damaging	0.99
R5144:Tssc4	UTSW	7	142,623,770 (GRCm39)	missense	probably damaging	0.99
R7152:Tssc4	UTSW	7	142,624,139 (GRCm39)	missense	probably damaging	1.00
R7198:Tssc4	UTSW	7	142,624,724 (GRCm39)	splice site	probably null
R7417:Tssc4	UTSW	7	142,624,425 (GRCm39)	missense	possibly damaging	0.91
R7468:Tssc4	UTSW	7	142,622,999 (GRCm39)	unclassified	probably benign
R7789:Tssc4	UTSW	7	142,623,515 (GRCm39)	splice site	probably null
R8178:Tssc4	UTSW	7	142,623,932 (GRCm39)	missense	possibly damaging	0.79
R8808:Tssc4	UTSW	7	142,623,436 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTAACCACCCAGCTTCGCG -3'
(R):5'- AAGGTAGAACTCATGCCTCG -3'

Sequencing Primer
(F):5'- CAGCTTCGCGAGGCCTC -3'
(R):5'- TAGAACTCATGCCTCGGAGGTG -3'

Posted On

2019-10-17