Mutagenetix > Incidental Mutation

Incidental Mutation 'R0365:Ssc5d'

36342

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

038571-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0365 (G1)

Quality Score

112

Status

Not validated

Chromosome

Chromosomal Location

4925785-4944826 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 4928467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 224 (C224*)

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

probably null
Transcript: ENSMUST00000057612
AA Change: C224*

SMART Domains

Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: C224*

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: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 58,028,692	M173K	probably benign	Het
Abcb1b	T	A	5: 8,806,009	F39Y	probably damaging	Het
Acbd3	A	G	1: 180,738,612	Y290C	probably damaging	Het
Alg12	A	C	15: 88,816,149	I28R	possibly damaging	Het
Amer2	A	T	14: 60,379,535	D393V	probably damaging	Het
Anxa5	A	T	3: 36,457,469	V153D	probably damaging	Het
Arl5a	T	C	2: 52,416,129	M64V	probably benign	Het
Armc4	T	A	18: 7,217,800	H638L	probably benign	Het
Astn1	T	C	1: 158,688,548	L1236P	probably damaging	Het
Atg2a	T	C	19: 6,247,683	S424P	possibly damaging	Het
AW551984	A	T	9: 39,599,321	S239R	probably benign	Het
Baz1b	T	C	5: 135,240,131	V1278A	probably benign	Het
Cbfa2t3	G	T	8: 122,635,060	L408I	probably benign	Het
Cdc27	A	T	11: 104,528,424	N227K	possibly damaging	Het
Cdh23	T	A	10: 60,379,315	N1412I	probably damaging	Het
Cdh7	A	T	1: 110,108,756	Q555H	probably damaging	Het
Cdhr2	T	C	13: 54,718,292	S302P	probably benign	Het
Cep350	C	A	1: 155,906,571	E1563D	probably benign	Het
Cfap221	T	A	1: 119,985,023	E107V	probably benign	Het
Col6a3	C	A	1: 90,788,216	R1641L	unknown	Het
Coro6	A	T	11: 77,464,090	I60F	probably benign	Het
Dock10	G	T	1: 80,595,683	N245K	probably damaging	Het
Epb41l2	T	A	10: 25,469,221	N286K	probably damaging	Het
Fam83g	G	T	11: 61,703,109	E490*	probably null	Het
Gm13088	G	T	4: 143,655,501	Y208*	probably null	Het
Gnb1l	T	C	16: 18,552,461	I234T	possibly damaging	Het
Gtf3a	T	A	5: 146,948,937	W53R	probably damaging	Het
Ikzf4	T	C	10: 128,634,407	I415V	probably benign	Het
Il11ra1	T	C	4: 41,767,527	V293A	probably damaging	Het
Il17ra	G	A	6: 120,478,449	V340M	probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Kif24	A	T	4: 41,428,731	H76Q	probably benign	Het
Klhl25	T	C	7: 75,866,516	L390P	probably damaging	Het
Klhl26	T	C	8: 70,451,829	D443G	probably damaging	Het
Lama3	A	T	18: 12,507,007	R86S	probably damaging	Het
Lrrc24	G	A	15: 76,715,784	A385V	probably benign	Het
Maea	C	T	5: 33,360,443	A109V	probably benign	Het
Mtor	A	T	4: 148,486,050	Y1188F	probably benign	Het
Nccrp1	T	C	7: 28,544,552	D202G	probably damaging	Het
Nsun4	A	T	4: 116,044,738	L177Q	probably damaging	Het
Nup155	C	T	15: 8,131,543	R571W	probably damaging	Het
Nup160	T	A	2: 90,708,844	M789K	probably benign	Het
Olfr262	A	G	19: 12,241,076	F195S	probably benign	Het
Olfr469	A	T	7: 107,822,917	L184*	probably null	Het
Olfr926	A	T	9: 38,877,185	H3L	probably benign	Het
Pgpep1	G	T	8: 70,652,524		probably null	Het
Pkd1l2	C	T	8: 117,021,850	V1861M	probably benign	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Plin4	G	T	17: 56,104,667	T788K	possibly damaging	Het
Ppp3r2	T	C	4: 49,681,902	D16G	possibly damaging	Het
Prdm16	A	T	4: 154,342,056	I424N	probably damaging	Het
Psen2	T	A	1: 180,228,845	I396F	probably damaging	Het
Psip1	C	T	4: 83,485,712		probably null	Het
Ptprd	G	A	4: 76,136,846	T215I	probably damaging	Het
Rec114	A	G	9: 58,741,539	S2P	probably benign	Het
Rexo1	A	G	10: 80,542,576	I1181T	probably damaging	Het
Rfx7	T	C	9: 72,619,836	M1436T	probably benign	Het
Rnf213	T	A	11: 119,426,111	V1020E	possibly damaging	Het
Rorc	G	A	3: 94,388,762	G83S	probably damaging	Het
Ryr2	T	G	13: 11,668,839	Q3113P	possibly damaging	Het
Shank1	T	C	7: 44,353,977	S1698P	possibly damaging	Het
Slc2a2	T	C	3: 28,708,679		probably null	Het
Slc5a9	A	T	4: 111,891,836	Y98*	probably null	Het
Smc6	T	C	12: 11,283,174		probably null	Het
Sptb	G	T	12: 76,600,383	F1959L	probably benign	Het
Srgap1	T	A	10: 121,785,705	H984L	possibly damaging	Het
St5	A	T	7: 109,538,949	V753E	probably damaging	Het
Ston2	A	T	12: 91,647,860	H591Q	probably benign	Het
Tbx3	C	T	5: 119,675,250	A222V	possibly damaging	Het
Thsd7a	A	G	6: 12,321,887		probably null	Het
Usp9y	T	C	Y: 1,364,732	D1027G	probably damaging	Het
Wnt5a	C	T	14: 28,518,504	R184*	probably null	Het
Zfpm2	A	G	15: 40,774,066	E74G	possibly damaging	Het
Zwint	C	A	10: 72,657,295	S223*	probably null	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
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'- GTTGTAAACAAACAGGAAGCTGCCC -3'
(R):5'- AGGCTAAGCCTCTCCCAGAGAATG -3'

Sequencing Primer
(F):5'- CCCTCCAAGCTGACATTAGACTAAG -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2013-05-09