Mutagenetix > Incidental Mutation

Incidental Mutation 'R5174:Ssc5d'

398997

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

042754-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4925785-4944826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4927971 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 184 (T184N)

Ref Sequence

ENSEMBL: ENSMUSP00000052126 (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

possibly damaging
Transcript: ENSMUST00000057612
AA Change: T184N

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: T184N

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

Meta Mutation Damage Score

0.0859

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	C	T	9: 103,282,556		probably null	Het
Ank3	T	C	10: 69,892,379	S632P	probably damaging	Het
Arhgef16	G	A	4: 154,282,047	R451W	probably damaging	Het
Asxl3	A	T	18: 22,523,115	D1394V	probably benign	Het
Atp2a3	T	A	11: 72,980,215	I545N	probably damaging	Het
Cadps2	T	A	6: 23,287,743	Y1181F	probably damaging	Het
Camkmt	C	A	17: 85,452,237	F268L	probably benign	Het
Casp14	C	T	10: 78,715,391	G20D	possibly damaging	Het
Celf1	T	C	2: 91,001,008	C61R	probably damaging	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,464,782		probably null	Het
Cers3	A	T	7: 66,784,868	K203M	probably damaging	Het
Clip4	T	C	17: 71,810,962	F334S	probably damaging	Het
Cyp2b13	T	A	7: 26,088,693	D415E	possibly damaging	Het
Decr2	A	T	17: 26,087,469		probably null	Het
Dmxl2	T	C	9: 54,445,484		probably null	Het
Dnah7b	G	A	1: 46,243,349	A2881T	possibly damaging	Het
Dnaja3	A	G	16: 4,684,297	H55R	probably benign	Het
Dnajc11	T	C	4: 151,979,984	F531L	probably damaging	Het
Efcab6	A	G	15: 84,054,486	F10L	probably benign	Het
Epm2aip1	T	C	9: 111,273,387	F476S	probably damaging	Het
Fat3	T	C	9: 15,999,570	N1712S	probably damaging	Het
Flnc	T	C	6: 29,448,894	V1343A	possibly damaging	Het
Fsip2	C	T	2: 82,980,741	P2468L	probably benign	Het
Gm5798	A	G	14: 41,348,663	H10R	possibly damaging	Het
Gm7168	A	G	17: 13,948,455	Y28C	probably damaging	Het
Gm9866	A	T	12: 27,142,028		noncoding transcript	Het
Gtpbp6	G	A	5: 110,108,117	R19C	possibly damaging	Het
Gucy2e	A	G	11: 69,236,566	F27S	probably benign	Het
Krba1	A	G	6: 48,412,295	E548G	probably damaging	Het
Ltbr	A	G	6: 125,309,537	S229P	probably benign	Het
Mgat5b	A	T	11: 116,977,715	Y488F	probably benign	Het
Mia3	T	A	1: 183,331,493	K475*	probably null	Het
Mrpl53	C	T	6: 83,109,657	T114M	possibly damaging	Het
Mrps35	T	C	6: 147,060,211	Y195H	possibly damaging	Het
Muc4	A	T	16: 32,751,738	I539F	possibly damaging	Het
Nedd1	T	A	10: 92,711,212	T150S	possibly damaging	Het
Nox4	T	G	7: 87,323,766	I327S	probably benign	Het
Nrk	C	G	X: 138,986,779	A1018G	probably benign	Het
Olfr1152	T	A	2: 87,868,411	V140E	possibly damaging	Het
Olfr1189	T	A	2: 88,592,648	N281K	probably damaging	Het
Olfr608	T	A	7: 103,470,403	F121L	probably benign	Het
Olfr984	T	C	9: 40,100,747	T248A	possibly damaging	Het
Pdzd2	G	A	15: 12,372,514	P2512S	probably benign	Het
Ptgis	T	A	2: 167,203,470		probably null	Het
Rnf170	T	A	8: 26,129,168	M140K	probably benign	Het
Scaf4	A	T	16: 90,247,174	I637K	unknown	Het
Sdccag8	A	T	1: 176,845,350	T270S	probably damaging	Het
Sec24d	T	C	3: 123,364,926	C1022R	probably damaging	Het
Sec63	T	C	10: 42,829,081		probably benign	Het
Serpinb3d	C	G	1: 107,078,498	E287Q	possibly damaging	Het
Smarcd2	A	G	11: 106,267,045		probably benign	Het
Sox15	A	G	11: 69,655,719	Y116C	probably damaging	Het
Spag16	T	C	1: 70,493,796	S545P	probably damaging	Het
St6galnac2	A	T	11: 116,681,947	F228I	probably damaging	Het
Syne1	T	C	10: 5,041,490	N8408S	probably damaging	Het
Trank1	A	C	9: 111,365,559	T884P	probably benign	Het
Ubr3	T	A	2: 70,009,162	L1540H	probably damaging	Het
Ugt2b37	C	A	5: 87,251,880	M256I	probably benign	Het
Vmn2r69	G	A	7: 85,415,531	T49I	possibly damaging	Het
Vmn2r72	T	A	7: 85,737,840	I839L	probably benign	Het
Zcrb1	A	G	15: 93,387,575		probably null	Het
Zfp319	A	T	8: 95,328,169		probably null	Het
Zfp592	T	C	7: 81,038,325	S1000P	probably damaging	Het
Zfp938	T	C	10: 82,226,004	N261D	possibly damaging	Het
Zfp957	A	G	14: 79,213,388	S324P	unknown	Het
Zswim6	G	T	13: 107,726,681		noncoding transcript	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
R0115:Ssc5d	UTSW	7	4927881	unclassified	probably benign
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
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'- TTTCTCCGGCAAGCTAGTC -3'
(R):5'- ATCTGAAGGGGCACTGTGAAC -3'

Sequencing Primer
(F):5'- GAAATCCTCTGTCCAGAAATCTTTC -3'
(R):5'- TGAACGCCGGTCTCCTTAGAG -3'

Posted On

2016-07-06