Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03343:Ssc4d'

417352

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ssc4d

Ensembl Gene

ENSMUSG00000029699

Gene Name

scavenger receptor cysteine rich family, 4 domains

Synonyms

Srcrb4d, C330016E03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

IGL03343

Quality Score

Status

Chromosome

Chromosomal Location

135989074-136003389 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 135990028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 493 (C493*)

Ref Sequence

ENSEMBL: ENSMUSP00000106783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054895] [ENSMUST00000111150] [ENSMUST00000111152] [ENSMUST00000111153] [ENSMUST00000153823] [ENSMUST00000154181]

AlphaFold

A1L0T3

Predicted Effect

probably null
Transcript: ENSMUST00000054895
AA Change: C41*

SMART Domains

Protein: ENSMUSP00000050439
Gene: ENSMUSG00000029699
AA Change: C41*

Domain	Start	End	E-Value	Type
SR	32	132	1.99e-51	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111150
AA Change: C15*

SMART Domains

Protein: ENSMUSP00000106780
Gene: ENSMUSG00000029699
AA Change: C15*

Domain	Start	End	E-Value	Type
SR	6	106	1.99e-51	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111152
AA Change: C493*

SMART Domains

Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699
AA Change: C493*

Domain	Start	End	E-Value	Type
low complexity region	40	59	N/A	INTRINSIC
SR	69	169	1.44e-48	SMART
SR	200	300	6.78e-54	SMART
low complexity region	301	315	N/A	INTRINSIC
SR	355	455	2.04e-48	SMART
SR	484	584	1.99e-51	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111153
AA Change: C493*

SMART Domains

Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699
AA Change: C493*

Domain	Start	End	E-Value	Type
low complexity region	40	59	N/A	INTRINSIC
SR	69	169	1.44e-48	SMART
SR	200	300	6.78e-54	SMART
low complexity region	301	315	N/A	INTRINSIC
SR	355	455	2.04e-48	SMART
SR	484	584	1.99e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153823

SMART Domains

Protein: ENSMUSP00000122958
Gene: ENSMUSG00000029699

Domain	Start	End	E-Value	Type
SR	1	101	6.78e-54	SMART
low complexity region	102	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154181

SMART Domains

Protein: ENSMUSP00000123008
Gene: ENSMUSG00000029699

Domain	Start	End	E-Value	Type
low complexity region	40	59	N/A	INTRINSIC
SR	69	169	1.44e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154696

SMART Domains

Protein: ENSMUSP00000117071
Gene: ENSMUSG00000029699

Domain	Start	End	E-Value	Type
SR	2	61	5.24e-5	SMART
low complexity region	88	102	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	G	7: 66,725,064 (GRCm39)	H795R	probably damaging	Het
Adgrl2	A	T	3: 148,565,016 (GRCm39)	I188K	probably damaging	Het
Adgrv1	A	G	13: 81,431,507 (GRCm39)	Y5974H	probably damaging	Het
Angpt4	A	G	2: 151,778,623 (GRCm39)	T336A	probably damaging	Het
Arhgap30	C	A	1: 171,236,662 (GRCm39)	T1012N	probably damaging	Het
Asl	A	T	5: 130,040,908 (GRCm39)	Y178N	probably damaging	Het
Brd1	C	A	15: 88,591,454 (GRCm39)	L714F	possibly damaging	Het
Ccdc47	A	G	11: 106,095,788 (GRCm39)	S303P	probably damaging	Het
Cdcp3	T	A	7: 130,848,420 (GRCm39)	I858N	probably damaging	Het
Cdk16	A	G	X: 20,561,998 (GRCm39)	K264E	probably damaging	Het
Cenpc1	A	T	5: 86,164,181 (GRCm39)	F813L	probably damaging	Het
Cfp	A	C	X: 20,794,248 (GRCm39)	F291C	possibly damaging	Het
Chordc1	T	G	9: 18,223,762 (GRCm39)	F276V	probably damaging	Het
Clic4	C	T	4: 134,945,889 (GRCm39)	R176H	possibly damaging	Het
Fcer1a	T	G	1: 173,053,040 (GRCm39)	N52T	possibly damaging	Het
Fndc7	A	T	3: 108,774,624 (GRCm39)	C545S	probably damaging	Het
Frem2	T	C	3: 53,559,674 (GRCm39)	D1611G	probably damaging	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
Gga3	A	T	11: 115,483,312 (GRCm39)	N82K	probably damaging	Het
Gm43638	G	A	5: 87,608,484 (GRCm39)	P452S	possibly damaging	Het
Gpn1	T	C	5: 31,662,309 (GRCm39)	S244P	probably damaging	Het
Hspa12a	T	C	19: 58,787,828 (GRCm39)	S665G	probably benign	Het
Htt	A	G	5: 34,983,385 (GRCm39)	I995V	probably benign	Het
Iars1	A	T	13: 49,878,223 (GRCm39)	I916L	probably benign	Het
Ice1	C	A	13: 70,751,048 (GRCm39)	L1679F	probably damaging	Het
Inpp1	A	T	1: 52,838,486 (GRCm39)	D54E	probably damaging	Het
Irf2bpl	T	C	12: 86,929,713 (GRCm39)	E320G	possibly damaging	Het
Itprid1	T	G	6: 55,945,569 (GRCm39)	D763E	probably damaging	Het
Kcnn2	T	C	18: 45,810,026 (GRCm39)	V421A	probably damaging	Het
Micu2	A	G	14: 58,154,768 (GRCm39)	V419A	probably benign	Het
Nek9	C	T	12: 85,350,383 (GRCm39)	C897Y	probably damaging	Het
Ofcc1	A	C	13: 40,226,140 (GRCm39)	H797Q	probably benign	Het
Or12d17	G	A	17: 37,777,300 (GRCm39)	D68N	probably damaging	Het
Or2y16	C	A	11: 49,335,070 (GRCm39)	H131N	probably damaging	Het
Or5m12	T	C	2: 85,735,285 (GRCm39)	T38A	probably benign	Het
Or6c69c	T	G	10: 129,911,125 (GRCm39)	L282R	probably damaging	Het
Pakap	C	T	4: 57,688,502 (GRCm39)	T115M	probably damaging	Het
Papss1	G	A	3: 131,288,950 (GRCm39)	G151S	probably benign	Het
Plxnb1	A	G	9: 108,943,780 (GRCm39)	T1956A	probably damaging	Het
Pomt1	A	G	2: 32,143,724 (GRCm39)		probably benign	Het
Ppfibp2	T	A	7: 107,337,126 (GRCm39)	Y570*	probably null	Het
Ppp1r9a	A	G	6: 5,046,015 (GRCm39)	E493G	probably damaging	Het
Ptk2b	A	G	14: 66,406,870 (GRCm39)	F621L	probably benign	Het
Ptpn13	G	T	5: 103,702,816 (GRCm39)	D1261Y	possibly damaging	Het
Ptprd	C	T	4: 75,977,966 (GRCm39)	G181D	probably damaging	Het
Rabgap1l	T	C	1: 160,270,853 (GRCm39)	T645A	probably benign	Het
Slc2a7	T	C	4: 150,252,797 (GRCm39)	I479T	probably damaging	Het
Smc3	A	G	19: 53,602,273 (GRCm39)	N40S	probably damaging	Het
Spata31	A	T	13: 65,067,587 (GRCm39)	D83V	probably benign	Het
Sptb	C	T	12: 76,630,330 (GRCm39)		probably benign	Het
Styxl2	T	C	1: 165,927,017 (GRCm39)	D865G	probably benign	Het
Ubr2	C	A	17: 47,262,844 (GRCm39)	V1256L	probably benign	Het
Ubr3	T	C	2: 69,803,490 (GRCm39)		probably benign	Het
Vmn2r105	C	T	17: 20,446,631 (GRCm39)	W456*	probably null	Het
Vmn2r24	T	A	6: 123,793,070 (GRCm39)	I799N	probably damaging	Het
Vps13b	G	A	15: 35,917,316 (GRCm39)	G3720D	possibly damaging	Het

Other mutations in Ssc4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Ssc4d	APN	5	135,996,817 (GRCm39)	missense	probably damaging	1.00
IGL02585:Ssc4d	APN	5	135,999,192 (GRCm39)	missense	possibly damaging	0.74
IGL02821:Ssc4d	APN	5	135,994,923 (GRCm39)	splice site	probably benign
R2051:Ssc4d	UTSW	5	135,999,118 (GRCm39)	missense	probably benign	0.00
R2069:Ssc4d	UTSW	5	135,999,171 (GRCm39)	missense	possibly damaging	0.50
R2508:Ssc4d	UTSW	5	135,994,461 (GRCm39)	missense	probably damaging	1.00
R2901:Ssc4d	UTSW	5	135,993,517 (GRCm39)	missense	possibly damaging	0.57
R2902:Ssc4d	UTSW	5	135,993,517 (GRCm39)	missense	possibly damaging	0.57
R2939:Ssc4d	UTSW	5	135,994,578 (GRCm39)	missense	possibly damaging	0.61
R3081:Ssc4d	UTSW	5	135,994,578 (GRCm39)	missense	possibly damaging	0.61
R4038:Ssc4d	UTSW	5	135,999,170 (GRCm39)	missense	possibly damaging	0.50
R4181:Ssc4d	UTSW	5	135,990,778 (GRCm39)	missense	possibly damaging	0.85
R4590:Ssc4d	UTSW	5	135,993,538 (GRCm39)	missense	probably benign	0.00
R4771:Ssc4d	UTSW	5	135,999,074 (GRCm39)	missense	probably damaging	1.00
R5411:Ssc4d	UTSW	5	135,992,254 (GRCm39)	missense	probably benign	0.40
R5583:Ssc4d	UTSW	5	135,999,050 (GRCm39)	missense	probably damaging	0.99
R5662:Ssc4d	UTSW	5	135,989,748 (GRCm39)	makesense	probably null
R5681:Ssc4d	UTSW	5	135,999,074 (GRCm39)	missense	probably damaging	1.00
R6357:Ssc4d	UTSW	5	135,994,950 (GRCm39)	missense	probably benign	0.00
R6962:Ssc4d	UTSW	5	135,991,775 (GRCm39)	critical splice donor site	probably null
R7258:Ssc4d	UTSW	5	135,991,941 (GRCm39)	missense	probably damaging	1.00
R7274:Ssc4d	UTSW	5	135,996,810 (GRCm39)	missense	possibly damaging	0.66
R7360:Ssc4d	UTSW	5	135,994,965 (GRCm39)	missense	probably damaging	1.00
R7563:Ssc4d	UTSW	5	135,991,887 (GRCm39)	missense	probably damaging	1.00
R9047:Ssc4d	UTSW	5	135,990,030 (GRCm39)	missense	probably damaging	0.98
Z1177:Ssc4d	UTSW	5	135,989,920 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02