Mutagenetix > Incidental Mutation

Incidental Mutation 'R7180:Ssc5d'

558910

Institutional Source

Beutler Lab

Gene Symbol

Ssc5d

Ensembl Gene

ENSMUSG00000035279

Gene Name

scavenger receptor cysteine rich family, 5 domains

Synonyms

A430110N23Rik, s5d-srcrb

MMRRC Submission

045233-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7180 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4928820-4947827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4939600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 679 (T679A)

Ref Sequence

ENSEMBL: ENSMUSP00000052126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057612] [ENSMUST00000208109]

AlphaFold

Q8BV57

Predicted Effect

probably benign
Transcript: ENSMUST00000057612
AA Change: T679A

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: T679A

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
SR	20	120	4.44e-49	SMART
low complexity region	141	155	N/A	INTRINSIC
low complexity region	167	182	N/A	INTRINSIC
SR	199	299	2.36e-53	SMART
SR	305	405	8.22e-53	SMART
low complexity region	437	462	N/A	INTRINSIC
SR	464	565	1.11e-49	SMART
low complexity region	741	755	N/A	INTRINSIC
SR	758	858	3.93e-50	SMART
low complexity region	936	957	N/A	INTRINSIC
low complexity region	981	1004	N/A	INTRINSIC
low complexity region	1018	1035	N/A	INTRINSIC
low complexity region	1218	1230	N/A	INTRINSIC
low complexity region	1357	1364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000208109

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	C	4: 49,381,803 (GRCm39)	Y196*	probably null	Het
Agrn	C	T	4: 156,256,296 (GRCm39)	R1405H	probably benign	Het
Agtpbp1	G	A	13: 59,613,852 (GRCm39)	H1030Y	probably benign	Het
Ankrd37	C	T	8: 46,452,891 (GRCm39)		probably benign	Het
Ap1g2	G	C	14: 55,341,908 (GRCm39)	P218R	probably damaging	Het
Ap2a1	C	T	7: 44,573,228 (GRCm39)		probably null	Het
Apc2	T	A	10: 80,146,990 (GRCm39)	D681E	possibly damaging	Het
Arhgef5	T	A	6: 43,252,142 (GRCm39)	N964K	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
Ccnf	T	A	17: 24,442,889 (GRCm39)	M773L	probably benign	Het
Ces1e	A	C	8: 93,941,772 (GRCm39)	S234A	probably damaging	Het
Ces1g	T	A	8: 94,029,576 (GRCm39)	E552V	probably benign	Het
Ctcfl	A	T	2: 172,947,770 (GRCm39)		probably null	Het
Dkk2	T	A	3: 131,791,953 (GRCm39)	S54T	probably damaging	Het
Dll1	A	G	17: 15,595,131 (GRCm39)	S49P	probably benign	Het
Dscam	C	A	16: 96,626,764 (GRCm39)	A382S	probably damaging	Het
Eif4a3l1	T	A	6: 136,306,535 (GRCm39)	I332N	probably damaging	Het
Eif5b	A	T	1: 38,088,155 (GRCm39)	M1020L	probably damaging	Het
Elp1	A	T	4: 56,796,535 (GRCm39)	S118R	probably damaging	Het
Enpp4	T	C	17: 44,412,928 (GRCm39)	D202G	probably benign	Het
Eps8	A	T	6: 137,456,072 (GRCm39)	I803N	possibly damaging	Het
Etv2	C	A	7: 30,335,074 (GRCm39)	G28V	probably damaging	Het
Fadd	A	T	7: 144,134,522 (GRCm39)	V121E	probably damaging	Het
Fam149b	T	C	14: 20,431,853 (GRCm39)	Y545H	probably benign	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Flg2	T	C	3: 93,110,140 (GRCm39)	S723P	unknown	Het
Gm4884	C	T	7: 40,693,633 (GRCm39)	T534I	possibly damaging	Het
Gpbar1	A	T	1: 74,317,792 (GRCm39)	I12F	possibly damaging	Het
Gpr151	A	T	18: 42,712,021 (GRCm39)	L219*	probably null	Het
Hdgfl2	T	A	17: 56,404,532 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,446,405 (GRCm39)	M200V	probably benign	Het
Idua	A	G	5: 108,828,761 (GRCm39)	N335S	probably benign	Het
Ifit1bl1	A	T	19: 34,571,302 (GRCm39)	F385Y	probably damaging	Het
Ift172	T	C	5: 31,411,606 (GRCm39)	D1624G	probably damaging	Het
Igsf9b	A	T	9: 27,233,964 (GRCm39)	T388S	possibly damaging	Het
Insyn2b	A	G	11: 34,369,873 (GRCm39)	K526E	probably damaging	Het
Jak2	A	G	19: 29,259,811 (GRCm39)	I237V	probably benign	Het
Kat5	C	A	19: 5,653,989 (GRCm39)	K398N	probably damaging	Het
Lmbrd2	T	A	15: 9,175,283 (GRCm39)	V398E	possibly damaging	Het
Lrp1	T	C	10: 127,392,834 (GRCm39)	N2744D	probably damaging	Het
Lrrd1	T	C	5: 3,901,459 (GRCm39)	I588T	probably damaging	Het
Ltn1	A	G	16: 87,215,382 (GRCm39)	F418L	probably damaging	Het
Magi1	T	A	6: 93,792,731 (GRCm39)	D169V	probably benign	Het
Mpdz	T	C	4: 81,253,988 (GRCm39)	E1048G	probably damaging	Het
Myh9	T	C	15: 77,692,110 (GRCm39)	I150V	probably benign	Het
Nckap1	A	T	2: 80,337,236 (GRCm39)	M1006K	probably benign	Het
Nkain1	C	T	4: 130,533,925 (GRCm38)	V132I	probably benign	Het
Npy6r	A	T	18: 44,409,223 (GRCm39)	M215L	probably benign	Het
Nr3c2	A	T	8: 77,635,592 (GRCm39)	Q231L	probably damaging	Het
Obox5	C	T	7: 15,491,849 (GRCm39)	P88L	probably benign	Het
Or10a48	A	G	7: 108,425,186 (GRCm39)	S7P	probably damaging	Het
Or9k7	T	C	10: 130,046,811 (GRCm39)	T63A	probably benign	Het
P2rx7	A	G	5: 122,818,883 (GRCm39)	D435G	possibly damaging	Het
Pdzd2	T	A	15: 12,376,209 (GRCm39)	S1309C	probably damaging	Het
Pex5l	C	T	3: 33,078,840 (GRCm39)		probably null	Het
Pip	T	A	6: 41,824,565 (GRCm39)	C18S	probably damaging	Het
Pla2g7	C	T	17: 43,909,967 (GRCm39)	T157M	probably damaging	Het
Plce1	A	G	19: 38,768,229 (GRCm39)	Y2168C	probably damaging	Het
Rgs2	T	C	1: 143,877,886 (GRCm39)	T137A	probably benign	Het
Rpl32	T	A	6: 115,784,768 (GRCm39)	I31F	possibly damaging	Het
Ryr2	T	C	13: 11,701,864 (GRCm39)	Y2931C	probably damaging	Het
Slc4a4	G	A	5: 89,194,095 (GRCm39)	E192K	probably damaging	Het
Slc4a7	G	A	14: 14,765,580 (GRCm38)	A521T	probably damaging	Het
Smchd1	T	C	17: 71,701,818 (GRCm39)	E1058G	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tas2r130	A	C	6: 131,607,211 (GRCm39)	S195A	probably benign	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Terf2ip	G	T	8: 112,738,052 (GRCm39)		probably benign	Het
Tm6sf2	G	A	8: 70,528,656 (GRCm39)	R136K	probably benign	Het
Tmprss15	A	G	16: 78,764,886 (GRCm39)	L858P	probably damaging	Het
Topaz1	A	G	9: 122,626,770 (GRCm39)	D1466G	possibly damaging	Het
Trip4	A	T	9: 65,764,627 (GRCm39)	L446Q	probably damaging	Het
Trpv3	G	T	11: 73,168,818 (GRCm39)	V93L	probably benign	Het
Ubl4b	A	T	3: 107,461,962 (GRCm39)	H99Q	probably damaging	Het
Unc45a	A	T	7: 79,979,569 (GRCm39)		probably null	Het
Vmn1r47	G	T	6: 89,999,335 (GRCm39)	A156S	probably damaging	Het
Vmn2r33	T	A	7: 7,566,896 (GRCm39)	H72L	probably benign	Het
Zeb1	G	A	18: 5,767,867 (GRCm39)	V793M	possibly damaging	Het
Zfp628	C	A	7: 4,924,063 (GRCm39)	Q762K	probably benign	Het

Other mutations in Ssc5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Ssc5d	APN	7	4,947,480 (GRCm39)	missense	possibly damaging	0.63
IGL00939:Ssc5d	APN	7	4,939,280 (GRCm39)	missense	possibly damaging	0.89
IGL01109:Ssc5d	APN	7	4,940,111 (GRCm39)	nonsense	probably null
IGL01409:Ssc5d	APN	7	4,945,808 (GRCm39)	missense	probably benign	0.16
IGL01880:Ssc5d	APN	7	4,936,218 (GRCm39)	missense	probably damaging	1.00
IGL02013:Ssc5d	APN	7	4,946,835 (GRCm39)	missense	probably benign	0.00
IGL02227:Ssc5d	APN	7	4,936,453 (GRCm39)	critical splice donor site	probably null
IGL02963:Ssc5d	APN	7	4,947,326 (GRCm39)	missense	probably benign	0.02
D4043:Ssc5d	UTSW	7	4,946,982 (GRCm39)	missense	possibly damaging	0.70
D4216:Ssc5d	UTSW	7	4,946,982 (GRCm39)	missense	possibly damaging	0.70
R0104:Ssc5d	UTSW	7	4,939,285 (GRCm39)	missense	probably benign	0.41
R0115:Ssc5d	UTSW	7	4,930,880 (GRCm39)	unclassified	probably benign
R0201:Ssc5d	UTSW	7	4,947,662 (GRCm39)	missense	probably benign
R0365:Ssc5d	UTSW	7	4,931,466 (GRCm39)	nonsense	probably null
R0485:Ssc5d	UTSW	7	4,940,470 (GRCm39)	missense	probably damaging	0.99
R0967:Ssc5d	UTSW	7	4,947,342 (GRCm39)	nonsense	probably null
R1607:Ssc5d	UTSW	7	4,947,042 (GRCm39)	missense	probably benign	0.25
R1639:Ssc5d	UTSW	7	4,931,416 (GRCm39)	missense	probably damaging	1.00
R1801:Ssc5d	UTSW	7	4,939,606 (GRCm39)	missense	probably benign	0.05
R1867:Ssc5d	UTSW	7	4,931,506 (GRCm39)	missense	probably damaging	1.00
R1999:Ssc5d	UTSW	7	4,945,713 (GRCm39)	missense	possibly damaging	0.86
R2007:Ssc5d	UTSW	7	4,931,628 (GRCm39)	missense	probably damaging	1.00
R2084:Ssc5d	UTSW	7	4,940,011 (GRCm39)	missense	probably benign	0.01
R2234:Ssc5d	UTSW	7	4,946,849 (GRCm39)	missense	probably benign
R2259:Ssc5d	UTSW	7	4,946,915 (GRCm39)	missense	probably benign	0.01
R2567:Ssc5d	UTSW	7	4,939,334 (GRCm39)	missense	probably damaging	1.00
R2879:Ssc5d	UTSW	7	4,939,906 (GRCm39)	critical splice acceptor site	probably null
R3782:Ssc5d	UTSW	7	4,945,790 (GRCm39)	missense	probably benign	0.00
R3875:Ssc5d	UTSW	7	4,930,261 (GRCm39)	missense	probably damaging	1.00
R4322:Ssc5d	UTSW	7	4,931,449 (GRCm39)	missense	probably damaging	1.00
R4331:Ssc5d	UTSW	7	4,945,725 (GRCm39)	missense	probably benign	0.00
R4334:Ssc5d	UTSW	7	4,946,663 (GRCm39)	missense	probably benign
R4430:Ssc5d	UTSW	7	4,946,663 (GRCm39)	missense	probably benign
R4619:Ssc5d	UTSW	7	4,932,524 (GRCm39)	missense	probably damaging	1.00
R4794:Ssc5d	UTSW	7	4,946,744 (GRCm39)	missense	probably benign
R5106:Ssc5d	UTSW	7	4,939,664 (GRCm39)	missense	probably benign	0.31
R5174:Ssc5d	UTSW	7	4,930,970 (GRCm39)	missense	possibly damaging	0.83
R5553:Ssc5d	UTSW	7	4,939,289 (GRCm39)	missense	probably damaging	1.00
R5649:Ssc5d	UTSW	7	4,929,517 (GRCm39)	critical splice donor site	probably null
R5786:Ssc5d	UTSW	7	4,939,817 (GRCm39)	missense	probably benign	0.00
R6059:Ssc5d	UTSW	7	4,945,743 (GRCm39)	missense	possibly damaging	0.86
R6163:Ssc5d	UTSW	7	4,930,253 (GRCm39)	missense	probably damaging	1.00
R6332:Ssc5d	UTSW	7	4,940,521 (GRCm39)	missense	probably damaging	1.00
R6341:Ssc5d	UTSW	7	4,939,664 (GRCm39)	missense	probably benign	0.31
R6613:Ssc5d	UTSW	7	4,936,292 (GRCm39)	missense	possibly damaging	0.82
R7576:Ssc5d	UTSW	7	4,931,572 (GRCm39)	missense	probably damaging	1.00
R7602:Ssc5d	UTSW	7	4,945,745 (GRCm39)	missense	possibly damaging	0.95
R7609:Ssc5d	UTSW	7	4,930,575 (GRCm39)	missense	possibly damaging	0.56
R7691:Ssc5d	UTSW	7	4,947,168 (GRCm39)	missense	probably benign	0.29
R7759:Ssc5d	UTSW	7	4,940,529 (GRCm39)	nonsense	probably null
R8480:Ssc5d	UTSW	7	4,939,328 (GRCm39)	missense	probably damaging	1.00
R9029:Ssc5d	UTSW	7	4,930,919 (GRCm39)	missense	probably damaging	0.97
R9163:Ssc5d	UTSW	7	4,936,432 (GRCm39)	missense	probably damaging	1.00
R9178:Ssc5d	UTSW	7	4,930,058 (GRCm39)	missense	probably damaging	1.00
R9181:Ssc5d	UTSW	7	4,945,814 (GRCm39)	missense	possibly damaging	0.86
R9382:Ssc5d	UTSW	7	4,930,283 (GRCm39)	critical splice donor site	probably null
R9489:Ssc5d	UTSW	7	4,940,599 (GRCm39)	missense	probably benign	0.02
R9626:Ssc5d	UTSW	7	4,946,568 (GRCm39)	missense	probably benign
R9630:Ssc5d	UTSW	7	4,939,426 (GRCm39)	missense	probably damaging	1.00
R9776:Ssc5d	UTSW	7	4,932,367 (GRCm39)	missense	probably benign	0.07
X0063:Ssc5d	UTSW	7	4,939,286 (GRCm39)	missense	probably damaging	1.00
Z1088:Ssc5d	UTSW	7	4,931,433 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCCAGTGTGCCACAGAAAC -3'
(R):5'- CTTGGGATGATTCCAGAGAGC -3'

Sequencing Primer
(F):5'- AGGTTCCAGGGAAAGCTCC -3'
(R):5'- ATGATTCCAGAGAGCCTTCG -3'

Posted On

2019-06-26