Mutagenetix > Incidental Mutation

Incidental Mutation 'R1812:Thsd4'

202482

Institutional Source

Beutler Lab

Gene Symbol

Thsd4

Ensembl Gene

ENSMUSG00000032289

Gene Name

thrombospondin, type I, domain containing 4

Synonyms

B230114P05Rik, ADAMTSL6

MMRRC Submission

039840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1812 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59874214-60429329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59964220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 64 (S64N)

Ref Sequence

ENSEMBL: ENSMUSP00000034829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034829] [ENSMUST00000098660] [ENSMUST00000171654]

AlphaFold

Q3UTY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034829
AA Change: S64N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034829
Gene: ENSMUSG00000032289
AA Change: S64N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ADAM_spacer1	52	168	7.8e-40	PFAM
low complexity region	189	205	N/A	INTRINSIC
TSP1	261	317	1.51e-1	SMART
TSP1	319	377	8.11e-5	SMART
TSP1	379	434	7.92e-8	SMART
TSP1	436	491	1.6e-3	SMART
TSP1	495	553	4.82e-2	SMART
TSP1	556	608	1.03e-6	SMART
Pfam:PLAC	614	646	2.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098660
AA Change: S424N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: S424N

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 benign
Transcript: ENSMUST00000171654
AA Change: S424N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: S424N

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: 97.3%
3x: 96.3%
10x: 93.2%
20x: 85.7%

Validation Efficiency

100% (1/1)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,164,740 (GRCm39)	Q545*	probably null	Het
Aadacl2	T	C	3: 59,932,498 (GRCm39)	C338R	probably damaging	Het
Abcb4	G	A	5: 8,978,578 (GRCm39)		probably null	Het
Adam17	T	C	12: 21,411,768 (GRCm39)	D41G	probably damaging	Het
Angptl7	T	A	4: 148,582,540 (GRCm39)	I119F	probably damaging	Het
Arid1b	T	A	17: 5,387,304 (GRCm39)	S1586T	probably benign	Het
Arid4b	C	T	13: 14,370,014 (GRCm39)	A1170V	probably damaging	Het
Atad5	A	G	11: 80,023,873 (GRCm39)	T1659A	probably damaging	Het
Bub1b	T	G	2: 118,462,902 (GRCm39)	D754E	probably benign	Het
Cdkn1a	T	C	17: 29,317,539 (GRCm39)	V53A	probably benign	Het
Chsy1	T	G	7: 65,821,565 (GRCm39)	V600G	probably benign	Het
Cntrl	G	A	2: 35,039,481 (GRCm39)	V561M	probably damaging	Het
Col6a5	A	G	9: 105,805,253 (GRCm39)	C1218R	unknown	Het
Crhr1	T	C	11: 104,059,973 (GRCm39)	L140P	probably damaging	Het
Cyb5b	CAGAG	CAG	8: 107,897,020 (GRCm39)		probably null	Het
Cyp3a59	A	T	5: 146,039,621 (GRCm39)	Q298L	probably damaging	Het
Dctn1	A	G	6: 83,169,500 (GRCm39)	E638G	possibly damaging	Het
Ddx41	A	G	13: 55,683,767 (GRCm39)	I88T	probably benign	Het
Dennd11	A	G	6: 40,386,365 (GRCm39)	I288T	probably benign	Het
Diaph1	G	T	18: 38,024,071 (GRCm39)	P589Q	unknown	Het
Dip2b	C	A	15: 100,096,819 (GRCm39)		probably null	Het
Dscaml1	G	A	9: 45,662,584 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,629,334 (GRCm39)	A4246V	possibly damaging	Het
Epb41l1	T	C	2: 156,338,431 (GRCm39)	I158T	probably damaging	Het
Fat1	A	G	8: 45,489,840 (GRCm39)	Y3584C	probably damaging	Het
Fxyd5	T	A	7: 30,737,355 (GRCm39)		probably null	Het
Gapvd1	T	A	2: 34,615,076 (GRCm39)	K336*	probably null	Het
Gm9637	G	A	14: 19,402,395 (GRCm38)		noncoding transcript	Het
Gpr65	C	T	12: 98,242,001 (GRCm39)	T218M	probably damaging	Het
Gsdma3	T	C	11: 98,523,219 (GRCm39)	V203A	probably damaging	Het
Helb	T	A	10: 119,925,471 (GRCm39)	K969*	probably null	Het
Hipk2	G	A	6: 38,675,098 (GRCm39)	A1188V	probably benign	Het
Itpk1	T	A	12: 102,540,317 (GRCm39)	E255D	probably benign	Het
Kif21a	T	C	15: 90,855,969 (GRCm39)	D596G	possibly damaging	Het
Kif5a	A	T	10: 127,077,879 (GRCm39)	I405N	probably benign	Het
Klk1b11	T	A	7: 43,427,179 (GRCm39)		probably null	Het
Luzp1	T	A	4: 136,269,642 (GRCm39)	L622M	probably benign	Het
Macf1	T	A	4: 123,325,817 (GRCm39)	I5227F	probably damaging	Het
Mapk10	A	C	5: 103,061,128 (GRCm39)	S470A	probably damaging	Het
Morc2a	C	T	11: 3,635,831 (GRCm39)	T897I	probably damaging	Het
Nmbr	A	G	10: 14,636,283 (GRCm39)		probably null	Het
Nosip	T	A	7: 44,725,998 (GRCm39)	M214K	probably damaging	Het
Or13c7d	G	T	4: 43,770,230 (GRCm39)	Y260*	probably null	Het
Or52m2	A	T	7: 102,263,577 (GRCm39)	N206K	possibly damaging	Het
Or52r1	T	C	7: 102,537,285 (GRCm39)	Y25C	probably benign	Het
Or5w13	A	G	2: 87,523,447 (GRCm39)	F260L	probably benign	Het
Pik3c2a	A	T	7: 116,016,899 (GRCm39)	V286E	probably damaging	Het
Ppfia4	T	A	1: 134,252,311 (GRCm39)	I388F	probably benign	Het
Ppm1f	A	G	16: 16,735,651 (GRCm39)	H289R	probably damaging	Het
Ptprz1	T	A	6: 22,959,711 (GRCm39)	D69E	probably benign	Het
Rad54b	A	T	4: 11,612,770 (GRCm39)	T801S	probably damaging	Het
Ramp1	A	T	1: 91,124,579 (GRCm39)	N47Y	probably damaging	Het
Rnf32	T	A	5: 29,411,258 (GRCm39)	H181Q	possibly damaging	Het
Rpa2	T	C	4: 132,495,996 (GRCm39)	F6L	probably benign	Het
Ryr2	C	A	13: 11,575,472 (GRCm39)	R4842L	probably damaging	Het
Scn11a	G	T	9: 119,609,931 (GRCm39)	C972*	probably null	Het
Setd2	C	T	9: 110,379,170 (GRCm39)	T995I	probably damaging	Het
Slc39a7	A	G	17: 34,247,789 (GRCm39)	L471P	probably damaging	Het
Slc6a21	C	G	7: 44,932,371 (GRCm39)	S350R	probably damaging	Het
Slx4ip	A	G	2: 136,910,115 (GRCm39)	N300S	probably benign	Het
Spef2	G	A	15: 9,679,435 (GRCm39)	P634L	probably damaging	Het
Stk32b	G	A	5: 37,624,102 (GRCm39)	A215V	probably damaging	Het
Svil	A	T	18: 5,097,545 (GRCm39)	Y1676F	probably damaging	Het
Tanc1	G	A	2: 59,622,023 (GRCm39)	V381M	probably damaging	Het
Tanc2	T	C	11: 105,777,212 (GRCm39)	F797L	probably benign	Het
Tas2r120	T	G	6: 132,634,564 (GRCm39)	C215W	probably benign	Het
Tenm4	G	A	7: 96,545,147 (GRCm39)	D2388N	probably damaging	Het
Thsd7b	C	T	1: 129,686,347 (GRCm39)	R630C	probably damaging	Het
Top3a	A	G	11: 60,650,188 (GRCm39)	I145T	probably damaging	Het
Vmn2r78	A	G	7: 86,569,995 (GRCm39)	D171G	probably benign	Het
Vmn2r82	A	G	10: 79,215,046 (GRCm39)	E343G	probably benign	Het
Wdr70	T	C	15: 8,108,663 (GRCm39)	D161G	probably benign	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
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
R7638:Thsd4	UTSW	9	60,301,755 (GRCm39)	missense	probably damaging	1.00
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'- TTCCTGAATGTCCTGGAATGC -3'
(R):5'- ACTAGATCTGCCGACCCTTC -3'

Sequencing Primer
(F):5'- AATGCCTGGCCACACTGTG -3'
(R):5'- CTCGCTCCTTCCTTCCGGATG -3'

Posted On

2014-06-23