Mutagenetix > Incidental Mutation

Incidental Mutation 'R3605:Thbs4'

269064

Institutional Source

Beutler Lab

Gene Symbol

Thbs4

Ensembl Gene

ENSMUSG00000021702

Gene Name

thrombospondin 4

Synonyms

TSP4, TSP-4

MMRRC Submission

040670-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92888098-92931326 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 92894467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 685 (C685*)

Ref Sequence

ENSEMBL: ENSMUSP00000022213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022213]

AlphaFold

Q9Z1T2

Predicted Effect

probably null
Transcript: ENSMUST00000022213
AA Change: C685*

SMART Domains

Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: C685*

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
TSPN	26	194	1.66e-51	SMART
Pfam:COMP	220	264	1.2e-24	PFAM
low complexity region	280	290	N/A	INTRINSIC
EGF	291	327	1.04e-3	SMART
EGF_CA	328	380	7.29e-8	SMART
EGF_CA	381	421	1.42e-10	SMART
EGF	425	464	4.32e-1	SMART
Pfam:TSP_3	498	533	7.1e-15	PFAM
Pfam:TSP_3	557	592	7.8e-17	PFAM
Pfam:TSP_3	616	653	1.4e-11	PFAM
Pfam:TSP_3	654	693	1.3e-10	PFAM
Pfam:TSP_3	694	729	1e-14	PFAM
Pfam:TSP_C	747	944	3.8e-102	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.3%

Validation Efficiency

95% (40/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased sensitivity to cardiac pressure overload, including increased hypertrophy, decreased ejection fraction, decreased microvessle number, increased extracellular matrix deposition and increased fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	C	T	3: 96,589,497 (GRCm39)	Q239*	probably null	Het
Arid4b	T	C	13: 14,294,826 (GRCm39)	V36A	probably damaging	Het
Art2b	T	A	7: 101,229,152 (GRCm39)	N249I	probably benign	Het
Bpifb1	T	A	2: 154,053,485 (GRCm39)	N242K	possibly damaging	Het
Cd200r1	A	G	16: 44,609,939 (GRCm39)	T53A	possibly damaging	Het
Cracr2b	C	T	7: 141,046,059 (GRCm39)	P370S	possibly damaging	Het
Crb1	T	A	1: 139,165,077 (GRCm39)	T1016S	probably damaging	Het
Esrrg	A	G	1: 187,943,299 (GRCm39)	H424R	possibly damaging	Het
Fgfrl1	C	A	5: 108,853,289 (GRCm39)	T213K	probably damaging	Het
Flrt3	T	A	2: 140,503,287 (GRCm39)	N114Y	probably damaging	Het
Fsip2	T	C	2: 82,815,253 (GRCm39)	V3662A	probably benign	Het
Gabra6	T	A	11: 42,205,777 (GRCm39)	I359F	probably benign	Het
Gal	A	G	19: 3,464,026 (GRCm39)		probably null	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm5814	G	T	17: 47,721,430 (GRCm39)	R48L	probably damaging	Het
Hcn1	G	A	13: 118,111,788 (GRCm39)	G584D	unknown	Het
Iqgap1	T	C	7: 80,373,537 (GRCm39)	D1484G	probably benign	Het
Kmt2a	G	A	9: 44,760,493 (GRCm39)	T485M	probably damaging	Het
Kprp	C	A	3: 92,731,588 (GRCm39)	Q487H	unknown	Het
Lctl	T	C	9: 64,040,475 (GRCm39)	Y473H	probably damaging	Het
Lrrc8d	G	A	5: 105,974,873 (GRCm39)	C93Y	unknown	Het
Mnt	T	A	11: 74,727,746 (GRCm39)	S211T	possibly damaging	Het
Mtdh	T	A	15: 34,114,258 (GRCm39)		probably benign	Het
Nxt1	T	C	2: 148,517,399 (GRCm39)	W47R	probably damaging	Het
Or4f59	T	A	2: 111,873,168 (GRCm39)	I70F	probably benign	Het
Or5k3	T	C	16: 58,969,846 (GRCm39)	I211T	probably damaging	Het
Plekha7	T	C	7: 115,763,477 (GRCm39)	D313G	possibly damaging	Het
Ranbp10	A	G	8: 106,502,667 (GRCm39)	S300P	probably benign	Het
Rbl1	A	T	2: 157,019,153 (GRCm39)	F531I	probably damaging	Het
Rpap2	A	G	5: 107,768,395 (GRCm39)	D411G	probably damaging	Het
Sapcd1	A	G	17: 35,246,781 (GRCm39)	F36L	probably damaging	Het
Svep1	A	T	4: 58,066,542 (GRCm39)	S3181T	probably benign	Het
Tgfbr2	G	A	9: 115,938,960 (GRCm39)	T314I	probably benign	Het
Tk2	A	G	8: 104,957,803 (GRCm39)	V181A	possibly damaging	Het
Traf2	T	C	2: 25,420,427 (GRCm39)	T141A	probably benign	Het
Ttn	C	T	2: 76,661,788 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het
Yif1b	C	T	7: 28,937,835 (GRCm39)	A7V	possibly damaging	Het
Zfp738	A	T	13: 67,819,508 (GRCm39)	L151*	probably null	Het

Other mutations in Thbs4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Thbs4	APN	13	92,913,488 (GRCm39)	missense	probably benign	0.04
IGL02318:Thbs4	APN	13	92,900,092 (GRCm39)	missense	probably damaging	1.00
IGL02887:Thbs4	APN	13	92,927,306 (GRCm39)	missense	probably benign	0.00
IGL03205:Thbs4	APN	13	92,899,282 (GRCm39)	missense	probably damaging	1.00
IGL03382:Thbs4	APN	13	92,906,056 (GRCm39)	missense	probably benign	0.37
R0087:Thbs4	UTSW	13	92,891,743 (GRCm39)	missense	probably damaging	0.99
R0128:Thbs4	UTSW	13	92,890,918 (GRCm39)	missense	probably benign	0.00
R0130:Thbs4	UTSW	13	92,890,918 (GRCm39)	missense	probably benign	0.00
R0276:Thbs4	UTSW	13	92,912,040 (GRCm39)	missense	probably benign	0.00
R0423:Thbs4	UTSW	13	92,893,079 (GRCm39)	missense	probably damaging	0.99
R0504:Thbs4	UTSW	13	92,903,692 (GRCm39)	missense	probably benign	0.04
R0708:Thbs4	UTSW	13	92,909,694 (GRCm39)	missense	probably damaging	1.00
R0836:Thbs4	UTSW	13	92,894,546 (GRCm39)	missense	probably damaging	1.00
R1078:Thbs4	UTSW	13	92,899,434 (GRCm39)	splice site	probably benign
R1139:Thbs4	UTSW	13	92,911,226 (GRCm39)	missense	probably damaging	1.00
R1253:Thbs4	UTSW	13	92,913,413 (GRCm39)	missense	probably benign	0.17
R1342:Thbs4	UTSW	13	92,888,925 (GRCm39)	missense	probably damaging	1.00
R1416:Thbs4	UTSW	13	92,898,041 (GRCm39)	missense	probably benign
R1834:Thbs4	UTSW	13	92,897,989 (GRCm39)	missense	probably benign	0.00
R1950:Thbs4	UTSW	13	92,906,079 (GRCm39)	missense	probably damaging	0.99
R2056:Thbs4	UTSW	13	92,927,387 (GRCm39)	missense	probably benign	0.00
R2184:Thbs4	UTSW	13	92,911,302 (GRCm39)	missense	probably benign
R2198:Thbs4	UTSW	13	92,899,779 (GRCm39)	missense	possibly damaging	0.78
R2859:Thbs4	UTSW	13	92,927,216 (GRCm39)	missense	probably benign	0.02
R3783:Thbs4	UTSW	13	92,909,672 (GRCm39)	missense	probably benign	0.09
R3784:Thbs4	UTSW	13	92,909,672 (GRCm39)	missense	probably benign	0.09
R3786:Thbs4	UTSW	13	92,909,672 (GRCm39)	missense	probably benign	0.09
R3787:Thbs4	UTSW	13	92,909,672 (GRCm39)	missense	probably benign	0.09
R4061:Thbs4	UTSW	13	92,912,605 (GRCm39)	critical splice donor site	probably null
R4790:Thbs4	UTSW	13	92,899,314 (GRCm39)	missense	probably damaging	1.00
R4968:Thbs4	UTSW	13	92,894,576 (GRCm39)	missense	possibly damaging	0.55
R4983:Thbs4	UTSW	13	92,927,207 (GRCm39)	missense	probably benign	0.29
R5185:Thbs4	UTSW	13	92,911,675 (GRCm39)	missense	probably damaging	0.97
R5352:Thbs4	UTSW	13	92,900,098 (GRCm39)	missense	probably damaging	1.00
R5361:Thbs4	UTSW	13	92,913,501 (GRCm39)	missense	probably benign
R5589:Thbs4	UTSW	13	92,912,582 (GRCm39)	splice site	probably null
R5700:Thbs4	UTSW	13	92,913,461 (GRCm39)	missense	probably benign	0.00
R6061:Thbs4	UTSW	13	92,888,303 (GRCm39)	missense	probably benign	0.00
R6101:Thbs4	UTSW	13	92,911,993 (GRCm39)	missense	possibly damaging	0.90
R6105:Thbs4	UTSW	13	92,911,993 (GRCm39)	missense	possibly damaging	0.90
R6227:Thbs4	UTSW	13	92,911,190 (GRCm39)	missense	probably null	1.00
R6249:Thbs4	UTSW	13	92,911,215 (GRCm39)	missense	probably damaging	1.00
R6651:Thbs4	UTSW	13	92,893,044 (GRCm39)	missense	probably benign	0.06
R6735:Thbs4	UTSW	13	92,891,674 (GRCm39)	missense	possibly damaging	0.71
R6885:Thbs4	UTSW	13	92,899,377 (GRCm39)	missense	probably damaging	0.96
R6913:Thbs4	UTSW	13	92,894,444 (GRCm39)	missense	possibly damaging	0.94
R7409:Thbs4	UTSW	13	92,909,767 (GRCm39)	nonsense	probably null
R7480:Thbs4	UTSW	13	92,903,729 (GRCm39)	missense	probably benign	0.00
R7682:Thbs4	UTSW	13	92,912,070 (GRCm39)	missense	probably benign	0.21
R8022:Thbs4	UTSW	13	92,888,955 (GRCm39)	missense	probably damaging	1.00
R8213:Thbs4	UTSW	13	92,897,094 (GRCm39)	critical splice acceptor site	probably null
R8231:Thbs4	UTSW	13	92,911,352 (GRCm39)	missense	probably benign
R8353:Thbs4	UTSW	13	92,927,325 (GRCm39)	missense	probably benign	0.04
R8445:Thbs4	UTSW	13	92,927,349 (GRCm39)	missense	probably benign	0.00
R8453:Thbs4	UTSW	13	92,927,325 (GRCm39)	missense	probably benign	0.04
R8520:Thbs4	UTSW	13	92,890,792 (GRCm39)	nonsense	probably null
R8560:Thbs4	UTSW	13	92,891,608 (GRCm39)	missense	probably damaging	0.97
R8774:Thbs4	UTSW	13	92,898,030 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Thbs4	UTSW	13	92,898,030 (GRCm39)	missense	probably damaging	1.00
R9061:Thbs4	UTSW	13	92,911,187 (GRCm39)	critical splice donor site	probably null
R9223:Thbs4	UTSW	13	92,897,998 (GRCm39)	missense	probably damaging	1.00
R9653:Thbs4	UTSW	13	92,898,022 (GRCm39)	missense	probably benign
R9691:Thbs4	UTSW	13	92,890,896 (GRCm39)	missense	probably damaging	1.00
R9778:Thbs4	UTSW	13	92,913,495 (GRCm39)	missense	probably benign	0.17
Z1177:Thbs4	UTSW	13	92,890,884 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTGACTGGGCCATGTTC -3'
(R):5'- AGGCTTCTGTCCCCTACTAAAC -3'

Sequencing Primer
(F):5'- ATGTGATCTCATCCCAGGCCAG -3'
(R):5'- AACTAATCTTTGCTCTGCAGTGACG -3'

Posted On

2015-02-19