Mutagenetix > Incidental Mutation

Incidental Mutation 'R4590:Ssc4d'

342739

Institutional Source

Beutler Lab

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: 0.155) question?

Stock #

R4590 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135989074-136003389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135993538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 106 (P106L)

Ref Sequence

ENSEMBL: ENSMUSP00000122958 (fasta)

Gene Model

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

AlphaFold

A1L0T3

Predicted Effect

probably benign
Transcript: ENSMUST00000054895

SMART Domains

Protein: ENSMUSP00000050439
Gene: ENSMUSG00000029699

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111150

SMART Domains

Protein: ENSMUSP00000106780
Gene: ENSMUSG00000029699

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111152
AA Change: P305L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699
AA Change: P305L

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: ENSMUST00000111153
AA Change: P305L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699
AA Change: P305L

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
AA Change: P106L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122958
Gene: ENSMUSG00000029699
AA Change: P106L

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

unknown
Transcript: ENSMUST00000154696
AA Change: P91L

SMART Domains

Protein: ENSMUSP00000117071
Gene: ENSMUSG00000029699
AA Change: P91L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	A	18: 36,716,697 (GRCm39)	D201E	probably damaging	Het
Ano10	T	A	9: 122,086,231 (GRCm39)	Q398L	probably benign	Het
Ap3d1	A	T	10: 80,555,646 (GRCm39)	L319*	probably null	Het
Cacna1e	T	C	1: 154,312,265 (GRCm39)	M1575V	possibly damaging	Het
Cep192	T	A	18: 67,949,862 (GRCm39)	Y315*	probably null	Het
Cndp2	C	A	18: 84,687,933 (GRCm39)	V353F	probably damaging	Het
Ctsq	T	A	13: 61,184,028 (GRCm39)	N298I	probably benign	Het
Dnah6	A	T	6: 73,129,695 (GRCm39)	C1173S	probably damaging	Het
Dnah9	T	C	11: 65,931,218 (GRCm39)	M1993V	probably damaging	Het
Dnhd1	T	C	7: 105,363,237 (GRCm39)	V3933A	probably damaging	Het
Dnpep	C	A	1: 75,293,045 (GRCm39)	V76L	probably damaging	Het
Dsc3	A	C	18: 20,122,752 (GRCm39)	C57W	probably damaging	Het
Dtx3	A	G	10: 127,028,564 (GRCm39)	S222P	probably damaging	Het
Eml5	T	C	12: 98,803,600 (GRCm39)	Y1009C	possibly damaging	Het
Fam169a	A	G	13: 97,234,093 (GRCm39)	I122V	probably benign	Het
Fgr	T	A	4: 132,722,364 (GRCm39)	V211E	probably damaging	Het
Flvcr1	T	C	1: 190,744,343 (GRCm39)	T402A	probably benign	Het
Frmd5	C	T	2: 121,595,512 (GRCm39)		probably null	Het
Fut2	T	C	7: 45,300,370 (GRCm39)	N134S	possibly damaging	Het
Gm10110	A	T	14: 90,134,982 (GRCm39)		noncoding transcript	Het
Gm7275	A	T	16: 47,893,982 (GRCm39)		noncoding transcript	Het
Gm904	T	A	13: 50,799,285 (GRCm39)	C81*	probably null	Het
Herc1	T	A	9: 66,344,946 (GRCm39)	V1913E	probably damaging	Het
Hnmt	T	C	2: 23,909,111 (GRCm39)		probably null	Het
Ift172	T	C	5: 31,411,299 (GRCm39)	E1643G	probably damaging	Het
Inpp4b	T	A	8: 82,468,040 (GRCm39)	M1K	probably null	Het
Keap1	G	T	9: 21,148,905 (GRCm39)	A34D	probably damaging	Het
Krt25	T	C	11: 99,208,854 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,865,410 (GRCm39)	V2916A	probably benign	Het
Ly9	G	A	1: 171,421,443 (GRCm39)	Q603*	probably null	Het
Mis18bp1	A	C	12: 65,205,280 (GRCm39)	N14K	possibly damaging	Het
Mmrn1	G	T	6: 60,937,797 (GRCm39)	C265F	probably damaging	Het
Mrgprb5	C	T	7: 47,817,809 (GRCm39)	E309K	probably benign	Het
Nrtn	T	C	17: 57,058,504 (GRCm39)	T166A	probably damaging	Het
Odr4	A	G	1: 150,262,103 (GRCm39)		probably null	Het
Or8g50	T	C	9: 39,648,146 (GRCm39)	F12L	probably damaging	Het
Osbpl7	T	A	11: 96,947,098 (GRCm39)	S266R	probably damaging	Het
Pcdhb11	T	C	18: 37,555,549 (GRCm39)	I293T	probably damaging	Het
Pes1	A	G	11: 3,927,986 (GRCm39)	Y546C	probably damaging	Het
Pth1r	A	T	9: 110,551,339 (GRCm39)	W587R	probably benign	Het
Rasgrf2	A	G	13: 92,174,789 (GRCm39)	Y147H	probably damaging	Het
Rbbp8	T	A	18: 11,865,322 (GRCm39)	L737*	probably null	Het
Rcor3	A	T	1: 191,810,217 (GRCm39)	F153L	probably damaging	Het
Rev3l	G	A	10: 39,682,929 (GRCm39)	C349Y	probably damaging	Het
Rnf115	C	T	3: 96,695,889 (GRCm39)	T225M	probably benign	Het
Rnf157	A	G	11: 116,250,098 (GRCm39)	V200A	probably damaging	Het
Scfd2	T	C	5: 74,372,917 (GRCm39)	T653A	probably benign	Het
Sdccag8	T	C	1: 176,775,858 (GRCm39)	Y590H	probably damaging	Het
Sema4d	T	A	13: 51,877,654 (GRCm39)	K59N	probably benign	Het
Serpinb7	C	A	1: 107,379,563 (GRCm39)	H323Q	probably damaging	Het
Setx	T	A	2: 29,034,821 (GRCm39)	H435Q	probably damaging	Het
Sgk3	T	C	1: 9,969,020 (GRCm39)	S466P	possibly damaging	Het
Sgsm2	T	C	11: 74,741,958 (GRCm39)	M1011V	probably damaging	Het
Taf7	T	C	18: 37,775,784 (GRCm39)	Q261R	possibly damaging	Het
Tbc1d2b	T	C	9: 90,152,553 (GRCm39)	K71R	possibly damaging	Het
Tff3	C	T	17: 31,348,508 (GRCm39)	V15I	probably benign	Het
Tgfb3	C	A	12: 86,124,589 (GRCm39)	V40L	possibly damaging	Het
Timm10	T	A	2: 84,657,992 (GRCm39)	D2E	possibly damaging	Het
Ttc16	T	A	2: 32,663,753 (GRCm39)	N74I	probably damaging	Het
Ttll1	G	A	15: 83,381,546 (GRCm39)	T241I	probably damaging	Het
Uba6	T	A	5: 86,260,603 (GRCm39)	D992V	probably damaging	Het
Vmn1r25	T	A	6: 57,955,480 (GRCm39)	T270S	probably benign	Het
Vmn2r106	T	C	17: 20,497,728 (GRCm39)	I504V	probably damaging	Het
Vmn2r87	G	T	10: 130,315,014 (GRCm39)	H191N	possibly damaging	Het
Vnn1	C	A	10: 23,775,303 (GRCm39)	F184L	possibly damaging	Het
Vtn	A	T	11: 78,393,032 (GRCm39)	I466F	probably damaging	Het
Zfp352	A	C	4: 90,112,772 (GRCm39)	D304A	probably 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
IGL03343:Ssc4d	APN	5	135,990,028 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CATCTGCCCCAAAGCCTTTG -3'
(R):5'- AATTAAAGGTCAGCATTGGAGC -3'

Sequencing Primer
(F):5'- GCTCAAGTCCCTTTCCTGTG -3'
(R):5'- AGGCCTGCTGGTACATACTTACAG -3'

Posted On

2015-09-24