Mutagenetix > Incidental Mutation

Incidental Mutation 'R7198:Tssc4'

574681

Institutional Source

Beutler Lab

Gene Symbol

Tssc4

Ensembl Gene

ENSMUSG00000045752

Gene Name

tumor-suppressing subchromosomal transferable fragment 4

Synonyms

ESTM671070

MMRRC Submission

045337-MU

Accession Numbers

Essential gene?

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

Stock #

R7198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142622986-142624830 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 142624724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146914 (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

probably benign
Transcript: ENSMUST00000060433

SMART Domains

Protein: ENSMUSP00000056582
Gene: ENSMUSG00000045752

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

probably benign
Transcript: ENSMUST00000105920

SMART Domains

Protein: ENSMUSP00000101540
Gene: ENSMUSG00000045752

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133410

SMART Domains

Protein: ENSMUSP00000123499
Gene: ENSMUSG00000045752

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

probably benign
Transcript: ENSMUST00000137856

SMART Domains

Protein: ENSMUSP00000123353
Gene: ENSMUSG00000045752

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

probably benign
Transcript: ENSMUST00000147995

SMART Domains

Protein: ENSMUSP00000122335
Gene: ENSMUSG00000045752

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

probably benign
Transcript: ENSMUST00000177841

SMART Domains

Protein: ENSMUSP00000137399
Gene: ENSMUSG00000045752

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

probably null
Transcript: ENSMUST00000208779

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 109,969,481 (GRCm39)	S365N	probably damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2b	A	G	2: 59,792,550 (GRCm39)	L526P	probably benign	Het
Bbs1	A	T	19: 4,945,043 (GRCm39)	L376Q	probably damaging	Het
Bcl9	T	A	3: 97,112,511 (GRCm39)	M1315L	possibly damaging	Het
Bcl9	T	C	3: 97,116,183 (GRCm39)	Q837R	probably damaging	Het
Cct2	A	G	10: 116,889,029 (GRCm39)	V490A	probably benign	Het
Cdh23	T	C	10: 60,148,378 (GRCm39)	Y2663C	possibly damaging	Het
Chit1	A	G	1: 134,078,229 (GRCm39)	K346E	possibly damaging	Het
Chl1	A	G	6: 103,683,517 (GRCm39)	Y781C	probably damaging	Het
Col12a1	A	C	9: 79,557,314 (GRCm39)	L1938R	possibly damaging	Het
Cpxm2	T	A	7: 131,681,813 (GRCm39)	N239Y	probably damaging	Het
Cyp3a41b	A	G	5: 145,519,330 (GRCm39)	Y54H	probably benign	Het
Dclk1	A	C	3: 55,385,296 (GRCm39)	D369A	possibly damaging	Het
Dnai4	A	G	4: 102,919,610 (GRCm39)	V498A	probably damaging	Het
Dpy19l3	T	C	7: 35,449,190 (GRCm39)	N71S	possibly damaging	Het
Efcab3	T	A	11: 104,642,711 (GRCm39)	N1111K	probably benign	Het
Fer	T	A	17: 64,228,683 (GRCm39)	V186E	possibly damaging	Het
Gm11042	T	A	12: 74,361,888 (GRCm39)	H39L	unknown	Het
Gm14325	A	G	2: 177,473,798 (GRCm39)	I428T	probably benign	Het
Gm47995	A	G	1: 151,074,404 (GRCm39)	E69G	possibly damaging	Het
Gm6176	T	A	7: 21,750,596 (GRCm39)	I112F	probably damaging	Het
Hivep2	T	A	10: 14,005,710 (GRCm39)	D769E	probably benign	Het
Hsdl1	C	T	8: 120,294,607 (GRCm39)	V40I	probably benign	Het
Ipmk	A	G	10: 71,183,882 (GRCm39)	H34R	probably damaging	Het
Kcnd3	T	C	3: 105,366,856 (GRCm39)	L242P	probably damaging	Het
Kdm4d	T	C	9: 14,375,316 (GRCm39)	M181V	probably damaging	Het
Lats2	A	T	14: 57,934,582 (GRCm39)	I716N	probably damaging	Het
Liph	T	C	16: 21,784,772 (GRCm39)	Y305C	probably damaging	Het
Ltbp1	T	C	17: 75,533,962 (GRCm39)	V150A	possibly damaging	Het
Ly6d	A	T	15: 74,634,384 (GRCm39)	S69T	probably benign	Het
Meltf	A	G	16: 31,702,617 (GRCm39)	R115G	possibly damaging	Het
Msgn1	G	T	12: 11,258,902 (GRCm39)	D16E	probably benign	Het
Mthfd2l	T	A	5: 91,094,705 (GRCm39)	I58K	probably damaging	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Nek10	T	A	14: 14,850,947 (GRCm38)	W331R	probably damaging	Het
Nphp3	A	G	9: 103,881,974 (GRCm39)	Y148C	probably damaging	Het
Or4a47	T	C	2: 89,666,076 (GRCm39)	Y71C	probably damaging	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Or6c33	T	A	10: 129,853,760 (GRCm39)	C177S	probably damaging	Het
Oscp1	A	G	4: 125,980,459 (GRCm39)	T325A	possibly damaging	Het
Pcdha4	T	A	18: 37,086,613 (GRCm39)	N265K	probably damaging	Het
Pigq	C	T	17: 26,153,199 (GRCm39)	V331I	probably benign	Het
Plekhg4	A	G	8: 106,105,329 (GRCm39)	E598G	probably damaging	Het
Pou6f2	G	A	13: 18,303,748 (GRCm39)	T120M	probably damaging	Het
Psg27	T	A	7: 18,295,726 (GRCm39)	T240S	probably damaging	Het
Samd12	T	A	15: 53,723,649 (GRCm39)	I15F	probably damaging	Het
Scaf4	A	T	16: 90,049,318 (GRCm39)	D256E	unknown	Het
Scaf8	T	A	17: 3,213,373 (GRCm39)	M154K	unknown	Het
Slc27a1	T	C	8: 72,032,071 (GRCm39)	V64A	possibly damaging	Het
Smc5	G	A	19: 23,237,064 (GRCm39)	R256*	probably null	Het
Snx31	A	G	15: 36,555,455 (GRCm39)	F31L	probably benign	Het
Spag17	T	C	3: 100,002,888 (GRCm39)	S1871P	probably benign	Het
Tdpoz4	T	G	3: 93,704,662 (GRCm39)	S320A	probably benign	Het
Tmprss11c	A	T	5: 86,379,691 (GRCm39)	C406S	probably damaging	Het
Tnip1	G	A	11: 54,808,630 (GRCm39)	A519V	probably benign	Het
Uba3	A	T	6: 97,182,512 (GRCm39)	M1K	probably null	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Wnt11	T	C	7: 98,496,588 (GRCm39)	M176T	possibly damaging	Het
Wrn	C	T	8: 33,814,346 (GRCm39)	G366D	probably benign	Het
Xylt1	T	A	7: 117,255,807 (GRCm39)	I793N	probably damaging	Het
Zfp677	T	G	17: 21,618,679 (GRCm39)	C579G	probably damaging	Het
Zscan4-ps1	T	A	7: 10,799,626 (GRCm39)	K421M	probably damaging	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
R7417:Tssc4	UTSW	7	142,624,425 (GRCm39)	missense	possibly damaging	0.91
R7468:Tssc4	UTSW	7	142,622,999 (GRCm39)	unclassified	probably benign
R7510:Tssc4	UTSW	7	142,623,718 (GRCm39)	missense	possibly damaging	0.91
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'- TTCAGAAGCTGCCCATCCTG -3'
(R):5'- ATGCAGTCCTGTAGTTGGC -3'

Sequencing Primer
(F):5'- CATCAGGCCCCATAGGTGTGAAG -3'
(R):5'- CTGCCCAGGACTGTTTGGAC -3'

Posted On

2019-10-03