Mutagenetix > Incidental Mutation

Incidental Mutation 'R6962:Ssc4d'

541805

Institutional Source

Beutler Lab

Gene Symbol

Ssc4d

Ensembl Gene

ENSMUSG00000029699

Gene Name

scavenger receptor cysteine rich family, 4 domains

Synonyms

Srcrb4d, C330016E03Rik

MMRRC Submission

045072-MU

Accession Numbers

Essential gene?

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

Stock #

R6962 (G1)

Quality Score

182.009

Status

Validated

Chromosome

Chromosomal Location

135989074-136003389 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 135991775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054895] [ENSMUST00000111150] [ENSMUST00000111152] [ENSMUST00000111152] [ENSMUST00000111153] [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 null
Transcript: ENSMUST00000111152

SMART Domains

Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699

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: ENSMUST00000111152

SMART Domains

Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699

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

SMART Domains

Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699

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

SMART Domains

Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699

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

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

96% (74/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,150 (GRCm39)	K1016E	probably benign	Het
Abca3	T	C	17: 24,583,700 (GRCm39)	F30L	probably benign	Het
Arhgap17	C	T	7: 122,895,655 (GRCm39)	G490R	probably damaging	Het
Arsg	T	A	11: 109,412,495 (GRCm39)	L140H	probably damaging	Het
Bmp2k	T	A	5: 97,179,097 (GRCm39)	C130*	probably null	Het
C4b	T	C	17: 34,951,140 (GRCm39)		probably null	Het
Cdk5r2	A	G	1: 74,894,975 (GRCm39)	Y240C	probably damaging	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Col27a1	A	G	4: 63,237,738 (GRCm39)		probably benign	Het
Cubn	G	A	2: 13,352,840 (GRCm39)	S1966F	probably benign	Het
Dnajc13	T	C	9: 104,058,208 (GRCm39)	Y1509C	probably benign	Het
Dpp4	A	G	2: 62,203,174 (GRCm39)	V265A	probably benign	Het
Dync2i1	A	T	12: 116,175,398 (GRCm39)	D926E	probably damaging	Het
Fbxl8	C	A	8: 105,995,338 (GRCm39)	N283K	possibly damaging	Het
Fev	T	A	1: 74,921,299 (GRCm39)	Q122L	probably benign	Het
Fgd4	T	A	16: 16,301,951 (GRCm39)		probably null	Het
Fnip2	A	C	3: 79,396,610 (GRCm39)	L439R	probably damaging	Het
Git1	C	A	11: 77,395,469 (GRCm39)	Q389K	probably benign	Het
Gm10509	C	G	17: 21,909,833 (GRCm39)	I53M	possibly damaging	Het
Gm5773	A	T	3: 93,681,234 (GRCm39)	H302L	possibly damaging	Het
Greb1l	G	T	18: 10,547,327 (GRCm39)	R1515L	probably damaging	Het
Gsc2	T	C	16: 17,732,902 (GRCm39)	Y2C	possibly damaging	Het
H60b	A	G	10: 22,162,053 (GRCm39)	N93D	probably benign	Het
Hgf	G	A	5: 16,820,752 (GRCm39)	R633Q	probably benign	Het
Hmgb1	C	T	5: 148,985,633 (GRCm39)		probably benign	Het
Hmmr	T	C	11: 40,598,242 (GRCm39)	T657A	probably damaging	Het
Htt	G	T	5: 35,057,115 (GRCm39)		probably null	Het
Ift80	G	A	3: 68,901,878 (GRCm39)		probably benign	Het
Kcnq5	G	T	1: 21,576,017 (GRCm39)	T229K	probably damaging	Het
Kcp	C	T	6: 29,482,839 (GRCm39)	R1410Q	probably benign	Het
Klhl30	T	G	1: 91,285,137 (GRCm39)	V331G	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc37	G	A	11: 103,505,126 (GRCm39)	P105S	possibly damaging	Het
Macf1	C	T	4: 123,334,515 (GRCm39)	R2849Q	probably benign	Het
Mex3b	T	G	7: 82,518,473 (GRCm39)	S263A	probably benign	Het
Mrgpre	A	G	7: 143,334,799 (GRCm39)	S235P	probably damaging	Het
Myh14	A	T	7: 44,307,363 (GRCm39)	V226D	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nudt8	G	T	19: 4,051,831 (GRCm39)	L147F	probably damaging	Het
Or2aj5	T	A	16: 19,424,672 (GRCm39)	I249L	probably benign	Het
Or52e8	T	A	7: 104,624,580 (GRCm39)	N208I	probably benign	Het
Or5w17	A	G	2: 87,584,071 (GRCm39)	Y89H	probably benign	Het
Or6z7	A	T	7: 6,484,008 (GRCm39)	I49N	probably benign	Het
P4htm	C	A	9: 108,456,394 (GRCm39)	A469S	possibly damaging	Het
Pld4	A	T	12: 112,733,288 (GRCm39)	H288L	probably benign	Het
Pnpla1	T	A	17: 29,097,455 (GRCm39)	I207N	probably damaging	Het
Ppcs	T	G	4: 119,279,375 (GRCm39)	N59T	probably damaging	Het
Ppm1k	A	T	6: 57,492,645 (GRCm39)	C214S	probably damaging	Het
Psg25	C	T	7: 18,263,679 (GRCm39)	G48E	probably damaging	Het
Rassf7	A	G	7: 140,797,503 (GRCm39)	T239A	possibly damaging	Het
Rgs3	G	T	4: 62,618,952 (GRCm39)		probably benign	Het
Scaper	T	C	9: 55,767,055 (GRCm39)	T465A	probably benign	Het
Slc4a7	G	T	14: 14,746,021 (GRCm38)	G405C	probably damaging	Het
Smpd3	T	C	8: 106,991,851 (GRCm39)	D234G	probably benign	Het
Spata31f1e	T	C	4: 42,793,323 (GRCm39)	T270A	probably damaging	Het
Sugct	G	T	13: 17,032,606 (GRCm39)		probably null	Het
Taok2	C	A	7: 126,466,088 (GRCm39)		probably null	Het
Tbx20	A	G	9: 24,681,036 (GRCm39)	V152A	probably damaging	Het
Tbx4	A	G	11: 85,781,085 (GRCm39)	E66G	probably benign	Het
Thbs2	T	C	17: 14,902,082 (GRCm39)	E382G	probably benign	Het
Ticrr	T	G	7: 79,315,645 (GRCm39)	S300A	possibly damaging	Het
Trim46	A	G	3: 89,146,303 (GRCm39)	L396P	probably damaging	Het
Trim56	A	G	5: 137,141,501 (GRCm39)	F672L	probably damaging	Het
Ttf2	A	G	3: 100,858,453 (GRCm39)	L712S	probably damaging	Het
Unc93b1	T	G	19: 3,986,303 (GRCm39)	D112E	possibly damaging	Het
Usp17lc	T	C	7: 103,068,118 (GRCm39)	L471P	probably benign	Het
Vmn2r85	A	G	10: 130,261,452 (GRCm39)	I295T	probably damaging	Het
Vmn2r96	T	G	17: 18,818,283 (GRCm39)	I812S	probably damaging	Het
Wdr7	G	A	18: 63,998,359 (GRCm39)	C1102Y	possibly damaging	Het
Wnt9b	G	T	11: 103,624,515 (GRCm39)	Q92K	probably null	Het
Zbtb26	A	T	2: 37,326,106 (GRCm39)	M310K	possibly damaging	Het
Zdhhc1	T	C	8: 106,210,279 (GRCm39)	H46R	probably damaging	Het
Zfp628	G	T	7: 4,922,549 (GRCm39)	R257L	probably benign	Het
Zfp747l1	A	T	7: 126,983,487 (GRCm39)	D538E	possibly damaging	Het
Zmat4	A	G	8: 24,392,181 (GRCm39)	T46A	probably benign	Het
Zmiz2	T	A	11: 6,352,455 (GRCm39)	W637R	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
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
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'- CCCGACTGTGAGCTAAAAGAGG -3'
(R):5'- AGAAAAGTAAGTGGCCCTGC -3'

Sequencing Primer
(F):5'- AGCTAAAAGAGGCTCCGC -3'
(R):5'- TGCGACGATGACTGGGACTTC -3'

Posted On

2018-11-28