Mutagenetix > Incidental Mutation

Incidental Mutation 'R5583:Ssc4d'

438566

Institutional Source

Beutler Lab

Gene Symbol

Ssc4d

Ensembl Gene

ENSMUSG00000029699

Gene Name

scavenger receptor cysteine rich family, 4 domains

Synonyms

Srcrb4d, C330016E03Rik

MMRRC Submission

043137-MU

Accession Numbers

Essential gene?

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

Stock #

R5583 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

135989074-136003389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135999050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 51 (L51H)

Ref Sequence

ENSEMBL: ENSMUSP00000123008 (fasta)

Gene Model

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

AlphaFold

A1L0T3

Predicted Effect

probably damaging
Transcript: ENSMUST00000111152
AA Change: L51H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699
AA Change: L51H

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 damaging
Transcript: ENSMUST00000111153
AA Change: L51H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699
AA Change: L51H

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 damaging
Transcript: ENSMUST00000154181
AA Change: L51H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123008
Gene: ENSMUSG00000029699
AA Change: L51H

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

Meta Mutation Damage Score

0.2253

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,793,083 (GRCm39)	L8Q	probably damaging	Het
Abca4	T	C	3: 121,942,550 (GRCm39)	V1681A	probably damaging	Het
Abce1	G	T	8: 80,416,922 (GRCm39)	A363E	probably benign	Het
Adgrl2	T	C	3: 148,564,800 (GRCm39)	Y256C	probably damaging	Het
Afm	T	C	5: 90,695,740 (GRCm39)	C416R	probably damaging	Het
Ahnak	T	A	19: 8,984,281 (GRCm39)	V1855D	probably damaging	Het
Alb	A	T	5: 90,616,452 (GRCm39)	H319L	probably benign	Het
Ankrd35	G	T	3: 96,592,219 (GRCm39)	R835L	probably damaging	Het
Atg2b	T	C	12: 105,615,414 (GRCm39)	D1014G	possibly damaging	Het
Cdk6	T	A	5: 3,394,436 (GRCm39)	Y24N	probably damaging	Het
Chd7	T	A	4: 8,752,473 (GRCm39)	N323K	probably damaging	Het
Cops9	A	T	1: 92,567,489 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,879,506 (GRCm39)	T561A	probably benign	Het
Dcdc5	T	C	2: 106,195,778 (GRCm39)		noncoding transcript	Het
Dnah7b	G	T	1: 46,281,359 (GRCm39)	A2807S	probably benign	Het
Fam149b	A	G	14: 20,413,368 (GRCm39)	T196A	possibly damaging	Het
Fam217a	C	A	13: 35,094,280 (GRCm39)	C402F	probably damaging	Het
Fat2	A	T	11: 55,144,715 (GRCm39)	V4053E	probably benign	Het
Fcgbp	T	C	7: 27,791,004 (GRCm39)	V755A	probably damaging	Het
Fxr1	C	A	3: 34,123,125 (GRCm39)	S641R	probably benign	Het
Gata5	A	T	2: 179,976,047 (GRCm39)	M39K	probably benign	Het
Gon4l	T	A	3: 88,807,278 (GRCm39)	D1658E	probably damaging	Het
Gpr180	C	T	14: 118,400,110 (GRCm39)	T426M	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Helq	T	C	5: 100,910,459 (GRCm39)	E1039G	probably damaging	Het
Hibch	T	A	1: 52,940,406 (GRCm39)	Y192N	probably damaging	Het
Hp1bp3	A	G	4: 137,949,426 (GRCm39)	I41M	probably damaging	Het
Itpripl2	G	T	7: 118,089,101 (GRCm39)	P486Q	probably benign	Het
Kcnj6	T	C	16: 94,634,060 (GRCm39)	D17G	probably benign	Het
Kprp	T	A	3: 92,731,643 (GRCm39)	Y469F	unknown	Het
Kremen2	T	C	17: 23,961,229 (GRCm39)	T373A	probably benign	Het
Lgi4	A	G	7: 30,760,562 (GRCm39)	Y39C	possibly damaging	Het
Lgr5	T	C	10: 115,314,409 (GRCm39)	D176G	probably benign	Het
Lrp1	T	C	10: 127,424,332 (GRCm39)	S785G	probably benign	Het
Ltbp1	A	T	17: 75,598,325 (GRCm39)	Q920L	probably benign	Het
Map2	A	G	1: 66,455,196 (GRCm39)	E1362G	probably damaging	Het
Nkx2-6	T	C	14: 69,409,272 (GRCm39)	S8P	probably damaging	Het
Or2h1b	T	C	17: 37,462,485 (GRCm39)	Q126R	probably benign	Het
Pde4dip	C	T	3: 97,654,892 (GRCm39)	R888Q	possibly damaging	Het
Per1	A	G	11: 68,994,271 (GRCm39)	H494R	probably damaging	Het
Pira2	A	G	7: 3,845,545 (GRCm39)	F280L	probably benign	Het
Plekhm3	C	T	1: 64,977,145 (GRCm39)	W108*	probably null	Het
Ptcd3	A	G	6: 71,879,920 (GRCm39)	S113P	probably damaging	Het
Scarf1	T	C	11: 75,404,842 (GRCm39)	L42P	possibly damaging	Het
Scart2	G	A	7: 139,876,739 (GRCm39)	C710Y	probably damaging	Het
Skint1	A	C	4: 111,876,253 (GRCm39)	Q58P	probably damaging	Het
Spata7	A	T	12: 98,635,590 (GRCm39)	N438I	probably damaging	Het
Spdya	C	A	17: 71,876,126 (GRCm39)	D164E	probably damaging	Het
Speer3	G	A	5: 13,844,782 (GRCm39)		probably null	Het
Steap1	A	G	5: 5,790,579 (GRCm39)	I123T	possibly damaging	Het
Styx	T	A	14: 45,608,483 (GRCm39)	F147I	possibly damaging	Het
Suv39h2	T	A	2: 3,475,890 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,373,446 (GRCm39)	V84A	probably benign	Het
Tlcd1	T	G	11: 78,069,762 (GRCm39)	V25G	probably benign	Het
Tmem79	T	C	3: 88,239,870 (GRCm39)	Y280C	probably damaging	Het
Trim5	T	A	7: 103,926,042 (GRCm39)	N173I	probably damaging	Het
Ttc17	A	T	2: 94,208,027 (GRCm39)	D194E	probably damaging	Het
Zfp2	T	C	11: 50,790,984 (GRCm39)	E353G	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
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
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
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'- GGCTCACATCACTACTCCTG -3'
(R):5'- ACTTCTCCTCAGATTCTTGATGGG -3'

Sequencing Primer
(F):5'- TCTAAGACAGGGTCTCATGTAGCC -3'
(R):5'- CTCAGATTCTTGATGGGACCGTC -3'

Posted On

2016-10-26