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

s5d-srcrb, A430110N23Rik

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

4925785-4944826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4936601 bp (GRCm38)

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 (GRCm38)	Y196*	probably null	Het
Agrn	C	T	4: 156,171,839 (GRCm38)	R1405H	probably benign	Het
Agtpbp1	G	A	13: 59,466,038 (GRCm38)	H1030Y	probably benign	Het
Ankrd37	C	T	8: 45,999,854 (GRCm38)		probably benign	Het
Ap1g2	G	C	14: 55,104,451 (GRCm38)	P218R	probably damaging	Het
Ap2a1	C	T	7: 44,923,804 (GRCm38)		probably null	Het
Apc2	T	A	10: 80,311,156 (GRCm38)	D681E	possibly damaging	Het
Arhgef5	T	A	6: 43,275,208 (GRCm38)	N964K	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136 (GRCm38)		probably benign	Het
Ccnf	T	A	17: 24,223,915 (GRCm38)	M773L	probably benign	Het
Ces1e	A	C	8: 93,215,144 (GRCm38)	S234A	probably damaging	Het
Ces1g	T	A	8: 93,302,948 (GRCm38)	E552V	probably benign	Het
Ctcfl	A	T	2: 173,105,977 (GRCm38)		probably null	Het
Dkk2	T	A	3: 132,086,192 (GRCm38)	S54T	probably damaging	Het
Dll1	A	G	17: 15,374,869 (GRCm38)	S49P	probably benign	Het
Dscam	C	A	16: 96,825,564 (GRCm38)	A382S	probably damaging	Het
Eif5b	A	T	1: 38,049,074 (GRCm38)	M1020L	probably damaging	Het
Enpp4	T	C	17: 44,102,037 (GRCm38)	D202G	probably benign	Het
Eps8	A	T	6: 137,479,074 (GRCm38)	I803N	possibly damaging	Het
Etv2	C	A	7: 30,635,649 (GRCm38)	G28V	probably damaging	Het
Fadd	A	T	7: 144,580,785 (GRCm38)	V121E	probably damaging	Het
Fam149b	T	C	14: 20,381,785 (GRCm38)	Y545H	probably benign	Het
Fam196b	A	G	11: 34,419,873 (GRCm38)	K526E	probably damaging	Het
Fbxl21	A	T	13: 56,523,527 (GRCm38)	M1L	probably benign	Het
Flg2	T	C	3: 93,202,833 (GRCm38)	S723P	unknown	Het
Gm4884	C	T	7: 41,044,209 (GRCm38)	T534I	possibly damaging	Het
Gm8994	T	A	6: 136,329,537 (GRCm38)	I332N	probably damaging	Het
Gpbar1	A	T	1: 74,278,633 (GRCm38)	I12F	possibly damaging	Het
Gpr151	A	T	18: 42,578,956 (GRCm38)	L219*	probably null	Het
Hdgfl2	T	A	17: 56,097,532 (GRCm38)		probably null	Het
Hectd4	A	G	5: 121,308,342 (GRCm38)	M200V	probably benign	Het
Idua	A	G	5: 108,680,895 (GRCm38)	N335S	probably benign	Het
Ifit1bl1	A	T	19: 34,593,902 (GRCm38)	F385Y	probably damaging	Het
Ift172	T	C	5: 31,254,262 (GRCm38)	D1624G	probably damaging	Het
Igsf9b	A	T	9: 27,322,668 (GRCm38)	T388S	possibly damaging	Het
Ikbkap	A	T	4: 56,796,535 (GRCm38)	S118R	probably damaging	Het
Jak2	A	G	19: 29,282,411 (GRCm38)	I237V	probably benign	Het
Kat5	C	A	19: 5,603,961 (GRCm38)	K398N	probably damaging	Het
Lmbrd2	T	A	15: 9,175,196 (GRCm38)	V398E	possibly damaging	Het
Lrp1	T	C	10: 127,556,965 (GRCm38)	N2744D	probably damaging	Het
Lrrd1	T	C	5: 3,851,459 (GRCm38)	I588T	probably damaging	Het
Ltn1	A	G	16: 87,418,494 (GRCm38)	F418L	probably damaging	Het
Magi1	T	A	6: 93,815,750 (GRCm38)	D169V	probably benign	Het
Mpdz	T	C	4: 81,335,751 (GRCm38)	E1048G	probably damaging	Het
Myh9	T	C	15: 77,807,910 (GRCm38)	I150V	probably benign	Het
Nckap1	A	T	2: 80,506,892 (GRCm38)	M1006K	probably benign	Het
Nkain1	C	T	4: 130,533,925 (GRCm38)	V132I	probably benign	Het
Npy6r	A	T	18: 44,276,156 (GRCm38)	M215L	probably benign	Het
Nr3c2	A	T	8: 76,908,963 (GRCm38)	Q231L	probably damaging	Het
Obox5	C	T	7: 15,757,924 (GRCm38)	P88L	probably benign	Het
Olfr514	A	G	7: 108,825,979 (GRCm38)	S7P	probably damaging	Het
Olfr827	T	C	10: 130,210,942 (GRCm38)	T63A	probably benign	Het
P2rx7	A	G	5: 122,680,820 (GRCm38)	D435G	possibly damaging	Het
Pdzd2	T	A	15: 12,376,123 (GRCm38)	S1309C	probably damaging	Het
Pex5l	C	T	3: 33,024,691 (GRCm38)		probably null	Het
Pip	T	A	6: 41,847,631 (GRCm38)	C18S	probably damaging	Het
Pla2g7	C	T	17: 43,599,076 (GRCm38)	T157M	probably damaging	Het
Plce1	A	G	19: 38,779,785 (GRCm38)	Y2168C	probably damaging	Het
Rgs2	T	C	1: 144,002,148 (GRCm38)	T137A	probably benign	Het
Rpl32	T	A	6: 115,807,807 (GRCm38)	I31F	possibly damaging	Het
Ryr2	T	C	13: 11,686,978 (GRCm38)	Y2931C	probably damaging	Het
Slc4a4	G	A	5: 89,046,236 (GRCm38)	E192K	probably damaging	Het
Slc4a7	G	A	14: 14,765,580 (GRCm38)	A521T	probably damaging	Het
Smchd1	T	C	17: 71,394,823 (GRCm38)	E1058G	probably damaging	Het
Sorbs1	G	C	19: 40,376,800 (GRCm38)	R180G	probably benign	Het
Tas2r130	A	C	6: 131,630,248 (GRCm38)	S195A	probably benign	Het
Tas2r135	C	T	6: 42,405,751 (GRCm38)	R75*	probably null	Het
Terf2ip	G	T	8: 112,011,420 (GRCm38)		probably benign	Het
Tm6sf2	G	A	8: 70,076,006 (GRCm38)	R136K	probably benign	Het
Tmprss15	A	G	16: 78,967,998 (GRCm38)	L858P	probably damaging	Het
Topaz1	A	G	9: 122,797,705 (GRCm38)	D1466G	possibly damaging	Het
Trip4	A	T	9: 65,857,345 (GRCm38)	L446Q	probably damaging	Het
Trpv3	G	T	11: 73,277,992 (GRCm38)	V93L	probably benign	Het
Ubl4b	A	T	3: 107,554,646 (GRCm38)	H99Q	probably damaging	Het
Unc45a	A	T	7: 80,329,821 (GRCm38)		probably null	Het
Vmn1r47	G	T	6: 90,022,353 (GRCm38)	A156S	probably damaging	Het
Vmn2r33	T	A	7: 7,563,897 (GRCm38)	H72L	probably benign	Het
Zeb1	G	A	18: 5,767,867 (GRCm38)	V793M	possibly damaging	Het
Zfp628	C	A	7: 4,921,064 (GRCm38)	Q762K	probably benign	Het

Other mutations in Ssc5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Ssc5d	APN	7	4,944,481 (GRCm38)	missense	possibly damaging	0.63
IGL00939:Ssc5d	APN	7	4,936,281 (GRCm38)	missense	possibly damaging	0.89
IGL01109:Ssc5d	APN	7	4,937,112 (GRCm38)	nonsense	probably null
IGL01409:Ssc5d	APN	7	4,942,809 (GRCm38)	missense	probably benign	0.16
IGL01880:Ssc5d	APN	7	4,933,219 (GRCm38)	missense	probably damaging	1.00
IGL02013:Ssc5d	APN	7	4,943,836 (GRCm38)	missense	probably benign	0.00
IGL02227:Ssc5d	APN	7	4,933,454 (GRCm38)	critical splice donor site	probably null
IGL02963:Ssc5d	APN	7	4,944,327 (GRCm38)	missense	probably benign	0.02
D4043:Ssc5d	UTSW	7	4,943,983 (GRCm38)	missense	possibly damaging	0.70
D4216:Ssc5d	UTSW	7	4,943,983 (GRCm38)	missense	possibly damaging	0.70
R0104:Ssc5d	UTSW	7	4,936,286 (GRCm38)	missense	probably benign	0.41
R0115:Ssc5d	UTSW	7	4,927,881 (GRCm38)	unclassified	probably benign
R0201:Ssc5d	UTSW	7	4,944,663 (GRCm38)	missense	probably benign
R0365:Ssc5d	UTSW	7	4,928,467 (GRCm38)	nonsense	probably null
R0485:Ssc5d	UTSW	7	4,937,471 (GRCm38)	missense	probably damaging	0.99
R0967:Ssc5d	UTSW	7	4,944,343 (GRCm38)	nonsense	probably null
R1607:Ssc5d	UTSW	7	4,944,043 (GRCm38)	missense	probably benign	0.25
R1639:Ssc5d	UTSW	7	4,928,417 (GRCm38)	missense	probably damaging	1.00
R1801:Ssc5d	UTSW	7	4,936,607 (GRCm38)	missense	probably benign	0.05
R1867:Ssc5d	UTSW	7	4,928,507 (GRCm38)	missense	probably damaging	1.00
R1999:Ssc5d	UTSW	7	4,942,714 (GRCm38)	missense	possibly damaging	0.86
R2007:Ssc5d	UTSW	7	4,928,629 (GRCm38)	missense	probably damaging	1.00
R2084:Ssc5d	UTSW	7	4,937,012 (GRCm38)	missense	probably benign	0.01
R2234:Ssc5d	UTSW	7	4,943,850 (GRCm38)	missense	probably benign
R2259:Ssc5d	UTSW	7	4,943,916 (GRCm38)	missense	probably benign	0.01
R2567:Ssc5d	UTSW	7	4,936,335 (GRCm38)	missense	probably damaging	1.00
R2879:Ssc5d	UTSW	7	4,936,907 (GRCm38)	critical splice acceptor site	probably null
R3782:Ssc5d	UTSW	7	4,942,791 (GRCm38)	missense	probably benign	0.00
R3875:Ssc5d	UTSW	7	4,927,262 (GRCm38)	missense	probably damaging	1.00
R4322:Ssc5d	UTSW	7	4,928,450 (GRCm38)	missense	probably damaging	1.00
R4331:Ssc5d	UTSW	7	4,942,726 (GRCm38)	missense	probably benign	0.00
R4334:Ssc5d	UTSW	7	4,943,664 (GRCm38)	missense	probably benign
R4430:Ssc5d	UTSW	7	4,943,664 (GRCm38)	missense	probably benign
R4619:Ssc5d	UTSW	7	4,929,525 (GRCm38)	missense	probably damaging	1.00
R4794:Ssc5d	UTSW	7	4,943,745 (GRCm38)	missense	probably benign
R5106:Ssc5d	UTSW	7	4,936,665 (GRCm38)	missense	probably benign	0.31
R5174:Ssc5d	UTSW	7	4,927,971 (GRCm38)	missense	possibly damaging	0.83
R5553:Ssc5d	UTSW	7	4,936,290 (GRCm38)	missense	probably damaging	1.00
R5649:Ssc5d	UTSW	7	4,926,518 (GRCm38)	critical splice donor site	probably null
R5786:Ssc5d	UTSW	7	4,936,818 (GRCm38)	missense	probably benign	0.00
R6059:Ssc5d	UTSW	7	4,942,744 (GRCm38)	missense	possibly damaging	0.86
R6163:Ssc5d	UTSW	7	4,927,254 (GRCm38)	missense	probably damaging	1.00
R6332:Ssc5d	UTSW	7	4,937,522 (GRCm38)	missense	probably damaging	1.00
R6341:Ssc5d	UTSW	7	4,936,665 (GRCm38)	missense	probably benign	0.31
R6613:Ssc5d	UTSW	7	4,933,293 (GRCm38)	missense	possibly damaging	0.82
R7576:Ssc5d	UTSW	7	4,928,573 (GRCm38)	missense	probably damaging	1.00
R7602:Ssc5d	UTSW	7	4,942,746 (GRCm38)	missense	possibly damaging	0.95
R7609:Ssc5d	UTSW	7	4,927,576 (GRCm38)	missense	possibly damaging	0.56
R7691:Ssc5d	UTSW	7	4,944,169 (GRCm38)	missense	probably benign	0.29
R7759:Ssc5d	UTSW	7	4,937,530 (GRCm38)	nonsense	probably null
R8480:Ssc5d	UTSW	7	4,936,329 (GRCm38)	missense	probably damaging	1.00
R9029:Ssc5d	UTSW	7	4,927,920 (GRCm38)	missense	probably damaging	0.97
R9163:Ssc5d	UTSW	7	4,933,433 (GRCm38)	missense	probably damaging	1.00
R9178:Ssc5d	UTSW	7	4,927,059 (GRCm38)	missense	probably damaging	1.00
R9181:Ssc5d	UTSW	7	4,942,815 (GRCm38)	missense	possibly damaging	0.86
R9382:Ssc5d	UTSW	7	4,927,284 (GRCm38)	critical splice donor site	probably null
R9489:Ssc5d	UTSW	7	4,937,600 (GRCm38)	missense	probably benign	0.02
R9626:Ssc5d	UTSW	7	4,943,569 (GRCm38)	missense	probably benign
R9630:Ssc5d	UTSW	7	4,936,427 (GRCm38)	missense	probably damaging	1.00
R9776:Ssc5d	UTSW	7	4,929,368 (GRCm38)	missense	probably benign	0.07
X0063:Ssc5d	UTSW	7	4,936,287 (GRCm38)	missense	probably damaging	1.00
Z1088:Ssc5d	UTSW	7	4,928,434 (GRCm38)	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