Mutagenetix > Incidental Mutation

Incidental Mutation 'R0115:Ssc5d'

20717

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

038401-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0115 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

4925785-4944826 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 4927881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047309] [ENSMUST00000057612] [ENSMUST00000207506] [ENSMUST00000207527] [ENSMUST00000207687] [ENSMUST00000208754]

AlphaFold

Q8BV57

Predicted Effect

probably benign
Transcript: ENSMUST00000047309

SMART Domains

Protein: ENSMUSP00000045354
Gene: ENSMUSG00000035285

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
low complexity region	88	97	N/A	INTRINSIC
Pfam:Acetyltransf_1	101	186	4.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057612

SMART Domains

Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279

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: ENSMUST00000207506

Predicted Effect

probably benign
Transcript: ENSMUST00000207527

Predicted Effect

probably benign
Transcript: ENSMUST00000207687

Predicted Effect

probably benign
Transcript: ENSMUST00000208754

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 86.0%

Validation Efficiency

98% (98/100)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,594,142		probably benign	Het
2310007B03Rik	A	T	1: 93,159,725	S135R	possibly damaging	Het
4921528I07Rik	A	G	9: 114,279,384		noncoding transcript	Het
Alas1	A	T	9: 106,238,252		probably null	Het
Arf5	A	G	6: 28,426,076	Y154C	probably damaging	Het
Arhgap20	T	A	9: 51,838,972	I344N	probably damaging	Het
Arhgap30	A	C	1: 171,407,948	E630A	possibly damaging	Het
B4galt5	A	G	2: 167,309,234	L118P	probably damaging	Het
Bdp1	A	G	13: 100,041,454	I1969T	probably benign	Het
Bysl	C	T	17: 47,610,942	R77Q	probably benign	Het
Cap1	A	T	4: 122,863,075	H272Q	possibly damaging	Het
Ccdc146	T	C	5: 21,322,756	I187M	possibly damaging	Het
Cdk13	C	A	13: 17,719,494	A1123S	probably damaging	Het
Ces5a	A	T	8: 93,502,183	M473K	probably damaging	Het
Chd8	A	G	14: 52,237,206	S123P	probably benign	Het
Cwc22	G	A	2: 77,908,111	A497V	probably damaging	Het
Cwh43	T	C	5: 73,418,027	S296P	probably damaging	Het
Cyp2c50	T	A	19: 40,092,393		probably benign	Het
Dlg1	C	A	16: 31,805,690	Y399*	probably null	Het
Drosha	A	T	15: 12,846,130	E92D	probably benign	Het
Fanca	C	T	8: 123,268,539	G1408D	probably benign	Het
Frem1	T	A	4: 82,936,169	D1621V	possibly damaging	Het
Frem2	G	A	3: 53,656,208	R293C	probably damaging	Het
Fut8	T	A	12: 77,448,560	V308D	probably damaging	Het
Glipr1	A	G	10: 111,993,541	I105T	probably benign	Het
Glmn	A	T	5: 107,560,934	S385T	probably benign	Het
Gm281	A	G	14: 13,899,571	V117A	probably damaging	Het
Gon4l	T	A	3: 88,895,682	V1200D	probably damaging	Het
Gpc1	G	A	1: 92,857,499	D387N	probably damaging	Het
Gsdmc	A	G	15: 63,803,637	Y110H	probably damaging	Het
Gucy1b1	T	A	3: 82,034,391	H586L	probably benign	Het
Gucy2e	A	G	11: 69,236,632	L5P	unknown	Het
Hectd4	A	G	5: 121,295,506		probably benign	Het
Hmcn1	T	A	1: 150,808,647	I391F	possibly damaging	Het
Hsf4	A	T	8: 105,272,704		probably null	Het
I830077J02Rik	G	A	3: 105,926,570	T90M	probably damaging	Het
Ino80	A	T	2: 119,431,016	H722Q	probably damaging	Het
Kcnma1	C	A	14: 23,314,175	R980L	probably damaging	Het
Kif1a	A	G	1: 93,046,778		probably benign	Het
Klhdc7b	A	G	15: 89,388,521	H1202R	probably benign	Het
Lig3	A	G	11: 82,793,935	D559G	probably damaging	Het
Lyst	T	C	13: 13,677,952	V2179A	probably benign	Het
Mansc4	A	G	6: 147,075,227	I297T	possibly damaging	Het
March6	A	T	15: 31,475,812	F633I	probably benign	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Megf10	G	T	18: 57,259,802	V424L	possibly damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mib2	A	G	4: 155,656,062		probably benign	Het
Mut	C	T	17: 40,956,227	T564M	probably damaging	Het
Myh8	A	G	11: 67,306,264		probably benign	Het
Mypn	T	C	10: 63,192,380		probably benign	Het
Nf1	G	A	11: 79,468,876		probably null	Het
Notch3	T	A	17: 32,133,462	T1866S	possibly damaging	Het
Olfr108	C	T	17: 37,445,779	A86V	probably benign	Het
Olfr1189	A	T	2: 88,592,655	I284F	probably damaging	Het
Olfr1301	T	A	2: 111,754,585	M112K	probably damaging	Het
Olfr390	A	G	11: 73,787,315	I126V	possibly damaging	Het
Pkhd1	A	T	1: 20,350,490	I2464N	probably damaging	Het
Pkn1	A	G	8: 83,671,029	S817P	probably damaging	Het
Prkg2	A	T	5: 98,994,655		probably null	Het
Prl8a6	T	C	13: 27,433,101	D201G	probably benign	Het
Psmd1	C	T	1: 86,083,271	T356I	possibly damaging	Het
Ptk6	G	A	2: 181,202,527		probably benign	Het
Ptprn2	T	C	12: 117,211,846		probably benign	Het
Rbm42	G	A	7: 30,647,775	T106I	probably damaging	Het
Rims4	A	T	2: 163,864,120	V198E	probably damaging	Het
Ripk1	T	C	13: 34,009,750	S32P	probably damaging	Het
Rorc	T	C	3: 94,377,609		probably benign	Het
Rpl22l1	T	C	3: 28,806,536	F15L	probably damaging	Het
Slc6a20a	C	A	9: 123,678,758	A17S	possibly damaging	Het
Sorcs1	A	G	19: 50,636,453		probably benign	Het
Sp100	A	G	1: 85,650,131		probably benign	Het
Taf11	A	G	17: 27,907,661	L4P	probably benign	Het
Tm2d3	A	G	7: 65,695,334		probably benign	Het
Tmub2	T	C	11: 102,288,375		probably null	Het
Trim34a	T	A	7: 104,247,902	C58S	probably damaging	Het
Trpc3	T	C	3: 36,624,417	I840V	probably benign	Het
Trpm6	T	C	19: 18,829,952	V1020A	probably damaging	Het
Vmn1r214	T	A	13: 23,035,294	Y319*	probably null	Het
Vmn1r59	T	C	7: 5,454,116	N215S	probably benign	Het
Vmn2r74	T	C	7: 85,957,356	M261V	probably benign	Het
Vmn2r89	T	C	14: 51,456,120	F309S	probably damaging	Het
Wdr95	A	T	5: 149,564,390	D163V	probably damaging	Het
Xirp2	T	A	2: 67,509,909	F831L	possibly damaging	Het
Ythdc2	C	T	18: 44,841,423		probably benign	Het

Other mutations in Ssc5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Ssc5d	APN	7	4944481	missense	possibly damaging	0.63
IGL00939:Ssc5d	APN	7	4936281	missense	possibly damaging	0.89
IGL01109:Ssc5d	APN	7	4937112	nonsense	probably null
IGL01409:Ssc5d	APN	7	4942809	missense	probably benign	0.16
IGL01880:Ssc5d	APN	7	4933219	missense	probably damaging	1.00
IGL02013:Ssc5d	APN	7	4943836	missense	probably benign	0.00
IGL02227:Ssc5d	APN	7	4933454	critical splice donor site	probably null
IGL02963:Ssc5d	APN	7	4944327	missense	probably benign	0.02
D4043:Ssc5d	UTSW	7	4943983	missense	possibly damaging	0.70
D4216:Ssc5d	UTSW	7	4943983	missense	possibly damaging	0.70
R0104:Ssc5d	UTSW	7	4936286	missense	probably benign	0.41
R0201:Ssc5d	UTSW	7	4944663	missense	probably benign
R0365:Ssc5d	UTSW	7	4928467	nonsense	probably null
R0485:Ssc5d	UTSW	7	4937471	missense	probably damaging	0.99
R0967:Ssc5d	UTSW	7	4944343	nonsense	probably null
R1607:Ssc5d	UTSW	7	4944043	missense	probably benign	0.25
R1639:Ssc5d	UTSW	7	4928417	missense	probably damaging	1.00
R1801:Ssc5d	UTSW	7	4936607	missense	probably benign	0.05
R1867:Ssc5d	UTSW	7	4928507	missense	probably damaging	1.00
R1999:Ssc5d	UTSW	7	4942714	missense	possibly damaging	0.86
R2007:Ssc5d	UTSW	7	4928629	missense	probably damaging	1.00
R2084:Ssc5d	UTSW	7	4937012	missense	probably benign	0.01
R2234:Ssc5d	UTSW	7	4943850	missense	probably benign
R2259:Ssc5d	UTSW	7	4943916	missense	probably benign	0.01
R2567:Ssc5d	UTSW	7	4936335	missense	probably damaging	1.00
R2879:Ssc5d	UTSW	7	4936907	critical splice acceptor site	probably null
R3782:Ssc5d	UTSW	7	4942791	missense	probably benign	0.00
R3875:Ssc5d	UTSW	7	4927262	missense	probably damaging	1.00
R4322:Ssc5d	UTSW	7	4928450	missense	probably damaging	1.00
R4331:Ssc5d	UTSW	7	4942726	missense	probably benign	0.00
R4334:Ssc5d	UTSW	7	4943664	missense	probably benign
R4430:Ssc5d	UTSW	7	4943664	missense	probably benign
R4619:Ssc5d	UTSW	7	4929525	missense	probably damaging	1.00
R4794:Ssc5d	UTSW	7	4943745	missense	probably benign
R5106:Ssc5d	UTSW	7	4936665	missense	probably benign	0.31
R5174:Ssc5d	UTSW	7	4927971	missense	possibly damaging	0.83
R5553:Ssc5d	UTSW	7	4936290	missense	probably damaging	1.00
R5649:Ssc5d	UTSW	7	4926518	critical splice donor site	probably null
R5786:Ssc5d	UTSW	7	4936818	missense	probably benign	0.00
R6059:Ssc5d	UTSW	7	4942744	missense	possibly damaging	0.86
R6163:Ssc5d	UTSW	7	4927254	missense	probably damaging	1.00
R6332:Ssc5d	UTSW	7	4937522	missense	probably damaging	1.00
R6341:Ssc5d	UTSW	7	4936665	missense	probably benign	0.31
R6613:Ssc5d	UTSW	7	4933293	missense	possibly damaging	0.82
R7180:Ssc5d	UTSW	7	4936601	missense	probably benign	0.17
R7576:Ssc5d	UTSW	7	4928573	missense	probably damaging	1.00
R7602:Ssc5d	UTSW	7	4942746	missense	possibly damaging	0.95
R7609:Ssc5d	UTSW	7	4927576	missense	possibly damaging	0.56
R7691:Ssc5d	UTSW	7	4944169	missense	probably benign	0.29
R7759:Ssc5d	UTSW	7	4937530	nonsense	probably null
R8480:Ssc5d	UTSW	7	4936329	missense	probably damaging	1.00
R9029:Ssc5d	UTSW	7	4927920	missense	probably damaging	0.97
R9163:Ssc5d	UTSW	7	4933433	missense	probably damaging	1.00
R9178:Ssc5d	UTSW	7	4927059	missense	probably damaging	1.00
R9181:Ssc5d	UTSW	7	4942815	missense	possibly damaging	0.86
R9382:Ssc5d	UTSW	7	4927284	critical splice donor site	probably null
R9489:Ssc5d	UTSW	7	4937600	missense	probably benign	0.02
R9626:Ssc5d	UTSW	7	4943569	missense	probably benign
R9630:Ssc5d	UTSW	7	4936427	missense	probably damaging	1.00
R9776:Ssc5d	UTSW	7	4929368	missense	probably benign	0.07
X0063:Ssc5d	UTSW	7	4936287	missense	probably damaging	1.00
Z1088:Ssc5d	UTSW	7	4928434	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGGAAATTCAGGCATCCCAGCTC -3'
(R):5'- CTCGTAGCACACAGATCAGGAAGAC -3'

Sequencing Primer
(F):5'- GAGAAGATTCAATGTCCCTGCTG -3'
(R):5'- CAGGGAAATGTAGAGCCTTACC -3'

Posted On

2013-04-11