Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Thsd4'

590073

Institutional Source

Beutler Lab

Gene Symbol

Thsd4

Ensembl Gene

ENSMUSG00000032289

Gene Name

thrombospondin, type I, domain containing 4

Synonyms

B230114P05Rik, ADAMTSL6

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59874214-60429329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60301755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 180 (T180M)

Ref Sequence

ENSEMBL: ENSMUSP00000096257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098660] [ENSMUST00000171654]

AlphaFold

Q3UTY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000098660
AA Change: T180M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: T180M

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
TSP1	57	100	7.9e-2	SMART
low complexity region	160	175	N/A	INTRINSIC
low complexity region	187	202	N/A	INTRINSIC
Pfam:ADAM_spacer1	412	528	1.5e-39	PFAM
low complexity region	549	565	N/A	INTRINSIC
TSP1	621	677	1.51e-1	SMART
TSP1	679	737	8.11e-5	SMART
TSP1	739	794	7.92e-8	SMART
TSP1	796	851	1.6e-3	SMART
TSP1	855	913	4.82e-2	SMART
TSP1	916	968	1.03e-6	SMART
Pfam:PLAC	974	1006	4.2e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171654
AA Change: T180M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: T180M

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
TSP1	57	100	7.9e-2	SMART
low complexity region	160	175	N/A	INTRINSIC
low complexity region	187	202	N/A	INTRINSIC
Pfam:ADAM_spacer1	412	528	5.4e-40	PFAM
low complexity region	549	565	N/A	INTRINSIC
TSP1	621	677	1.51e-1	SMART
TSP1	679	737	8.11e-5	SMART
TSP1	739	794	7.92e-8	SMART
TSP1	796	851	1.6e-3	SMART
TSP1	855	913	4.82e-2	SMART
TSP1	916	968	1.03e-6	SMART
Pfam:PLAC	975	1005	1.3e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	T	G	2: 26,733,855 (GRCm39)	T115P	probably damaging	Het
Aggf1	G	A	13: 95,492,921 (GRCm39)	R563*	probably null	Het
Amdhd1	A	T	10: 93,370,360 (GRCm39)	Y159*	probably null	Het
Camp	T	C	9: 109,677,461 (GRCm39)	E124G		Het
Casq2	A	G	3: 101,994,016 (GRCm39)	E21G	possibly damaging	Het
Cbln1	A	T	8: 88,198,357 (GRCm39)	F116Y	probably damaging	Het
Cklf	A	T	8: 104,989,996 (GRCm39)	K143*	probably null	Het
Clca3a1	A	G	3: 144,457,723 (GRCm39)	I387T	probably damaging	Het
Cndp1	T	A	18: 84,654,174 (GRCm39)	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,184,670 (GRCm39)	M317K	possibly damaging	Het
Dmxl2	A	T	9: 54,365,078 (GRCm39)	I138K	unknown	Het
Eapp	A	G	12: 54,720,508 (GRCm39)	S236P	probably benign	Het
Efcab3	T	A	11: 104,927,625 (GRCm39)	M4798K	probably benign	Het
Efnb3	T	C	11: 69,448,046 (GRCm39)	H132R	possibly damaging	Het
Fam243	A	G	16: 92,117,805 (GRCm39)	V161A	probably damaging	Het
Fbn2	A	T	18: 58,238,208 (GRCm39)	N596K	probably damaging	Het
Fzd9	A	G	5: 135,279,484 (GRCm39)	W134R	probably damaging	Het
Gga2	A	G	7: 121,603,157 (GRCm39)	S180P	probably damaging	Het
Golga3	A	G	5: 110,353,694 (GRCm39)	T911A	probably benign	Het
Gstm1	C	T	3: 107,921,866 (GRCm39)		probably null	Het
Heg1	A	G	16: 33,547,867 (GRCm39)	T909A	probably damaging	Het
Herc2	T	C	7: 55,807,186 (GRCm39)	S2455P	probably benign	Het
Herc2	C	T	7: 55,870,273 (GRCm39)	R4349W	probably damaging	Het
Hivep2	T	G	10: 14,019,595 (GRCm39)	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,564,707 (GRCm39)		probably null	Het
Kbtbd13	G	T	9: 65,298,605 (GRCm39)	C110*	probably null	Het
Krt78	T	C	15: 101,859,318 (GRCm39)	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,288,995 (GRCm39)	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,307,352 (GRCm39)		probably null	Het
Lrrc14	A	G	15: 76,598,173 (GRCm39)	D301G	probably benign	Het
Lrrc71	C	A	3: 87,649,113 (GRCm39)	G352W	probably damaging	Het
Map3k9	A	G	12: 81,771,506 (GRCm39)	V694A	probably benign	Het
Mboat2	T	C	12: 24,989,325 (GRCm39)	S162P	probably damaging	Het
Megf11	C	A	9: 64,586,535 (GRCm39)	N422K	probably damaging	Het
Miga1	C	T	3: 151,982,324 (GRCm39)	S584N	probably benign	Het
Mindy2	A	G	9: 70,524,141 (GRCm39)	Y403H	probably damaging	Het
Mmd	C	T	11: 90,167,583 (GRCm39)	A204V	possibly damaging	Het
Mta3	A	T	17: 84,107,572 (GRCm39)	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,598,794 (GRCm39)	S43F	probably benign	Het
Nhsl3	T	C	4: 129,115,734 (GRCm39)	T1022A	probably benign	Het
Nphp4	T	C	4: 152,638,991 (GRCm39)	V874A	probably benign	Het
Nsd1	A	G	13: 55,460,141 (GRCm39)	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,190,792 (GRCm39)	H302R	probably benign	Het
Odc1	A	G	12: 17,600,003 (GRCm39)	Y389C	probably damaging	Het
Or52p2	A	G	7: 102,237,125 (GRCm39)	I275T	probably damaging	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Or8g37	T	G	9: 39,731,189 (GRCm39)	F85V	probably damaging	Het
Pcare	T	C	17: 72,057,880 (GRCm39)	D599G	probably damaging	Het
Pcdhb10	A	C	18: 37,545,365 (GRCm39)	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,465,675 (GRCm39)	C182G	probably damaging	Het
Pigv	T	C	4: 133,392,762 (GRCm39)	D136G	possibly damaging	Het
Polr1h	A	C	17: 37,268,722 (GRCm39)		probably null	Het
Pramel5	T	C	4: 143,998,010 (GRCm39)	E411G	possibly damaging	Het
Prkce	T	C	17: 86,476,028 (GRCm39)	V3A	probably benign	Het
Pth1r	T	C	9: 110,551,461 (GRCm39)	N546S	probably benign	Het
Qrich2	C	T	11: 116,346,148 (GRCm39)	V1559I	probably benign	Het
Rbm20	A	C	19: 53,802,764 (GRCm39)	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,388,284 (GRCm39)	D393N	probably damaging	Het
Sf3b3	G	A	8: 111,547,445 (GRCm39)	R728C	probably damaging	Het
Spata31e1	G	T	13: 49,940,451 (GRCm39)	Q420K	probably benign	Het
Srcap	A	G	7: 127,137,920 (GRCm39)	N1090S	probably benign	Het
Syt4	A	T	18: 31,576,875 (GRCm39)	S160T	probably benign	Het
Tcstv6	A	T	13: 120,304,224 (GRCm39)		probably null	Het
Tfap2e	C	T	4: 126,615,727 (GRCm39)	V236M	probably damaging	Het
Tlr4	T	A	4: 66,758,443 (GRCm39)	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883 (GRCm39)	H136L	probably benign	Het
Tnpo2	T	A	8: 85,771,044 (GRCm39)	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,270,870 (GRCm39)	M111V	probably benign	Het
Tubb3	A	T	8: 124,147,900 (GRCm39)	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299 (GRCm39)	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,067,706 (GRCm39)	S334P	probably damaging	Het
Vps13c	A	G	9: 67,852,791 (GRCm39)	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,454,172 (GRCm39)	Y125H	probably benign	Het
Zfp747	A	T	7: 126,973,819 (GRCm39)	M117K	probably benign	Het
Zscan4c	A	T	7: 10,743,658 (GRCm39)	N419I	possibly damaging	Het

Other mutations in Thsd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02206:Thsd4	APN	9	60,301,398 (GRCm39)	missense	probably benign	0.22
IGL02418:Thsd4	APN	9	60,335,598 (GRCm39)	missense	probably damaging	0.99
IGL02491:Thsd4	APN	9	59,907,301 (GRCm39)	missense	probably damaging	0.99
IGL02754:Thsd4	APN	9	59,896,380 (GRCm39)	splice site	probably benign
IGL02874:Thsd4	APN	9	60,160,013 (GRCm39)	missense	probably damaging	1.00
IGL02978:Thsd4	APN	9	59,964,129 (GRCm39)	splice site	probably null
IGL03139:Thsd4	APN	9	59,904,456 (GRCm39)	missense	probably benign	0.01
R0266:Thsd4	UTSW	9	59,904,417 (GRCm39)	missense	probably benign	0.07
R0482:Thsd4	UTSW	9	59,910,261 (GRCm39)	missense	probably damaging	1.00
R1188:Thsd4	UTSW	9	60,301,689 (GRCm39)	missense	probably benign	0.12
R1447:Thsd4	UTSW	9	59,904,496 (GRCm39)	missense	probably benign
R1572:Thsd4	UTSW	9	60,301,836 (GRCm39)	splice site	probably benign
R1812:Thsd4	UTSW	9	59,964,220 (GRCm39)	missense	probably damaging	1.00
R2349:Thsd4	UTSW	9	59,879,798 (GRCm39)	missense	probably benign	0.05
R3236:Thsd4	UTSW	9	60,301,670 (GRCm39)	missense	probably benign
R4088:Thsd4	UTSW	9	59,904,505 (GRCm39)	missense	probably benign	0.02
R4884:Thsd4	UTSW	9	59,895,320 (GRCm39)	missense	probably benign	0.43
R4886:Thsd4	UTSW	9	59,896,313 (GRCm39)	missense	probably benign	0.00
R5066:Thsd4	UTSW	9	59,883,615 (GRCm39)	missense	probably damaging	1.00
R5223:Thsd4	UTSW	9	59,964,325 (GRCm39)	missense	probably damaging	1.00
R5441:Thsd4	UTSW	9	59,887,066 (GRCm39)	missense	probably damaging	1.00
R5457:Thsd4	UTSW	9	59,887,060 (GRCm39)	missense	probably damaging	1.00
R5574:Thsd4	UTSW	9	59,879,683 (GRCm39)	missense	probably damaging	1.00
R5581:Thsd4	UTSW	9	59,879,741 (GRCm39)	missense	possibly damaging	0.90
R5903:Thsd4	UTSW	9	60,301,389 (GRCm39)	missense	possibly damaging	0.47
R6220:Thsd4	UTSW	9	59,890,030 (GRCm39)	missense	probably damaging	1.00
R6728:Thsd4	UTSW	9	59,904,480 (GRCm39)	missense	probably benign
R7102:Thsd4	UTSW	9	59,883,587 (GRCm39)	missense	probably damaging	1.00
R7316:Thsd4	UTSW	9	59,894,642 (GRCm39)	missense	probably benign	0.00
R7403:Thsd4	UTSW	9	59,964,170 (GRCm39)	missense	probably damaging	0.99
R7671:Thsd4	UTSW	9	60,335,457 (GRCm39)	missense	probably benign
R7856:Thsd4	UTSW	9	59,910,144 (GRCm39)	missense	probably damaging	1.00
R8671:Thsd4	UTSW	9	60,301,728 (GRCm39)	missense	probably damaging	0.98
R9104:Thsd4	UTSW	9	59,964,179 (GRCm39)	missense	possibly damaging	0.95
R9182:Thsd4	UTSW	9	59,894,649 (GRCm39)	missense	probably benign	0.00
R9252:Thsd4	UTSW	9	59,964,230 (GRCm39)	missense	probably benign	0.04
R9663:Thsd4	UTSW	9	59,890,026 (GRCm39)	missense	probably damaging	1.00
Z1177:Thsd4	UTSW	9	59,895,377 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGCAGGATAGCTTTGGTCG -3'
(R):5'- GCCTAGGCTTCCATGATATCTC -3'

Sequencing Primer
(F):5'- CAGCTGGTAGATAGAAGCCTC -3'
(R):5'- CATGATATCTCTTCTGAGCCATGGG -3'

Posted On

2019-10-24