Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01409:Ssc5d'

79910

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ssc5d

Ensembl Gene

ENSMUSG00000035279

Gene Name

scavenger receptor cysteine rich family, 5 domains

Synonyms

s5d-srcrb, A430110N23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01409

Quality Score

Status

Chromosome

Chromosomal Location

4925785-4944826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4942809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 947 (T947A)

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: T947A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: T947A

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

noncoding transcript
Transcript: ENSMUST00000207310

Predicted Effect

probably benign
Transcript: ENSMUST00000208109

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap26	C	T	18: 39,110,451		probably benign	Het
Asxl1	T	C	2: 153,392,940		probably benign	Het
Atm	A	T	9: 53,499,171	V1037E	probably benign	Het
Bmp6	A	G	13: 38,485,889	N383S	probably damaging	Het
Btbd11	C	T	10: 85,658,165	A1049V	possibly damaging	Het
Btf3l4	A	C	4: 108,819,197	S103R	probably damaging	Het
Cadps2	T	C	6: 23,587,441	D321G	probably damaging	Het
Ccdc144b	T	A	3: 36,025,928	M227L	possibly damaging	Het
Col24a1	G	A	3: 145,538,564	S1531N	probably benign	Het
Cpb1	T	A	3: 20,249,805	Y365F	possibly damaging	Het
Dpp6	T	C	5: 27,557,601	Y238H	probably damaging	Het
Epha6	G	A	16: 59,655,737	R1089*	probably null	Het
Fam46c	A	T	3: 100,473,169	D90E	probably damaging	Het
Fga	T	C	3: 83,032,752	F571S	probably damaging	Het
Focad	A	G	4: 88,342,305	T933A	unknown	Het
Gria2	A	G	3: 80,707,697		probably null	Het
Hnrnpul1	T	C	7: 25,724,652	N725S	unknown	Het
Ik	A	T	18: 36,756,921	K534N	probably damaging	Het
Itga8	T	C	2: 12,191,714	T631A	probably benign	Het
Kcnip1	G	T	11: 33,630,593	D214E	probably benign	Het
Kcnk10	A	T	12: 98,490,063	Y170N	probably damaging	Het
Lalba	A	G	15: 98,482,067		probably null	Het
Ly75	A	T	2: 60,321,692		probably null	Het
Myh10	T	C	11: 68,807,219	L1629P	probably damaging	Het
Myo15b	C	A	11: 115,869,504	C1127*	probably null	Het
Neurl4	T	G	11: 69,907,099	N728K	probably damaging	Het
Nrxn3	T	A	12: 89,510,358	F801Y	probably damaging	Het
Nup214	G	T	2: 32,026,931		probably null	Het
Obscn	G	A	11: 59,031,058	R6624C	probably damaging	Het
Olfr123	T	C	17: 37,795,522	F26S	probably damaging	Het
Pdk1	A	G	2: 71,895,779	T344A	probably benign	Het
Pitx2	C	A	3: 129,214,764	S63Y	probably damaging	Het
Ppara	A	C	15: 85,777,643	L28F	probably damaging	Het
Rad54l	G	A	4: 116,105,877	T308I	probably damaging	Het
Sbds	T	C	5: 130,254,066	E7G	probably damaging	Het
Slc22a19	T	C	19: 7,711,130	I22V	probably benign	Het
Slfn10-ps	T	C	11: 83,035,496		noncoding transcript	Het
Spag4	T	C	2: 156,069,332	S396P	possibly damaging	Het
Spef2	C	A	15: 9,716,413	L362F	probably damaging	Het
Srebf2	A	G	15: 82,171,218	T208A	probably damaging	Het
Tdp1	T	C	12: 99,909,681	I297T	possibly damaging	Het
Tsen2	T	C	6: 115,559,594	Y104H	possibly damaging	Het
Was	G	A	X: 8,087,816	R229C	probably damaging	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
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
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

Posted On

2013-11-05