Mutagenetix > Incidental Mutation

Incidental Mutation 'R7274:Ssc4d'

565444

Institutional Source

Beutler Lab

Gene Symbol

Ssc4d

Ensembl Gene

ENSMUSG00000029699

Gene Name

scavenger receptor cysteine rich family, 4 domains

Synonyms

Srcrb4d, C330016E03Rik

MMRRC Submission

067851-MU

Accession Numbers

Essential gene?

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

Stock #

R7274 (G1)

Quality Score

203.009

Status

Validated

Chromosome

Chromosomal Location

135989074-136003389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135996810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 97 (D97G)

Ref Sequence

ENSEMBL: ENSMUSP00000106782 (fasta)

Gene Model

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

AlphaFold

A1L0T3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111152
AA Change: D97G

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699
AA Change: D97G

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

possibly damaging
Transcript: ENSMUST00000111153
AA Change: D97G

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699
AA Change: D97G

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

possibly damaging
Transcript: ENSMUST00000154181
AA Change: D97G

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123008
Gene: ENSMUSG00000029699
AA Change: D97G

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	T	C	8: 121,338,005 (GRCm39)	S69G	possibly damaging	Het
Alg12	G	A	15: 88,690,910 (GRCm39)	S337F	probably damaging	Het
Bcl11a	T	C	11: 24,113,985 (GRCm39)	S443P	probably damaging	Het
C1qtnf4	T	C	2: 90,719,885 (GRCm39)	Y53H	probably damaging	Het
Cacna1d	T	A	14: 29,864,600 (GRCm39)	E454V	probably damaging	Het
Cacna1h	A	G	17: 25,597,811 (GRCm39)	F1761S	probably damaging	Het
Cacna1i	A	T	15: 80,261,023 (GRCm39)	I1344F	possibly damaging	Het
Cat	T	C	2: 103,307,235 (GRCm39)	N33D	probably benign	Het
Cdh17	C	T	4: 11,783,174 (GRCm39)	Q172*	probably null	Het
Chrna2	A	G	14: 66,386,675 (GRCm39)	I274V	probably benign	Het
Cog2	T	G	8: 125,262,258 (GRCm39)	S299A	possibly damaging	Het
Cpa6	C	A	1: 10,479,524 (GRCm39)	M236I	probably damaging	Het
Crym	T	A	7: 119,789,742 (GRCm39)	Q242L	probably benign	Het
Ddx60	T	C	8: 62,393,142 (GRCm39)		probably null	Het
Eif4a3l1	A	G	6: 136,306,396 (GRCm39)	T286A	possibly damaging	Het
Epdr1	A	T	13: 19,777,458 (GRCm39)	I180N	possibly damaging	Het
Fancd2os	G	A	6: 113,574,851 (GRCm39)	L52F	probably benign	Het
Fbxo16	C	A	14: 65,558,716 (GRCm39)	R292S	probably benign	Het
Fn1	T	C	1: 71,667,272 (GRCm39)	Q820R	probably benign	Het
Gm4131	T	A	14: 62,704,301 (GRCm39)	Y140F	possibly damaging	Het
Grin2a	T	C	16: 9,396,986 (GRCm39)	R1034G	possibly damaging	Het
Hypk	A	G	2: 121,284,805 (GRCm39)		probably benign	Het
Ighmbp2	A	G	19: 3,314,951 (GRCm39)	V823A	probably benign	Het
Irf5	A	G	6: 29,534,039 (GRCm39)	N95S	probably damaging	Het
Kdr	A	T	5: 76,125,360 (GRCm39)	M379K	probably benign	Het
Kif19a	G	T	11: 114,656,281 (GRCm39)		probably benign	Het
Klhdc4	T	C	8: 122,526,397 (GRCm39)		probably null	Het
Lama2	A	T	10: 26,995,976 (GRCm39)	I1717N	probably damaging	Het
Lama4	A	T	10: 38,968,295 (GRCm39)	Q1479L	probably benign	Het
Lgr5	T	A	10: 115,288,410 (GRCm39)	T745S	probably damaging	Het
Lifr	T	A	15: 7,196,540 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,596,812 (GRCm39)	R138C	possibly damaging	Het
Mccc1	A	T	3: 36,044,005 (GRCm39)	V246E	probably damaging	Het
Mdn1	T	A	4: 32,725,944 (GRCm39)	L2621H	probably benign	Het
Mecr	C	A	4: 131,581,089 (GRCm39)	A80D	probably damaging	Het
Mia2	A	G	12: 59,154,905 (GRCm39)	E206G	probably damaging	Het
Nubpl	A	G	12: 52,179,203 (GRCm39)		probably benign	Het
Obscn	C	T	11: 59,024,053 (GRCm39)	R539H	probably damaging	Het
Or4n4b	T	A	14: 50,535,879 (GRCm39)	T296S	probably benign	Het
Or8h10	A	G	2: 86,808,867 (GRCm39)	V91A	probably benign	Het
Pde5a	A	T	3: 122,648,895 (GRCm39)	K838*	probably null	Het
Pgm3	A	G	9: 86,444,650 (GRCm39)	L295P	probably damaging	Het
Pkp2	T	C	16: 16,064,793 (GRCm39)	L439P	possibly damaging	Het
Polr1a	T	A	6: 71,897,500 (GRCm39)	C205*	probably null	Het
Rab3gap1	T	A	1: 127,855,249 (GRCm39)	I429K	probably benign	Het
Rassf8	T	C	6: 145,761,295 (GRCm39)	V207A	probably benign	Het
Sacs	T	A	14: 61,451,530 (GRCm39)	D4525E	possibly damaging	Het
Sec24a	A	T	11: 51,598,082 (GRCm39)	L864Q	probably damaging	Het
Spats2l	C	A	1: 57,918,672 (GRCm39)	Y35*	probably null	Het
Sptlc2	A	T	12: 87,388,380 (GRCm39)	D367E	probably benign	Het
Tjp1	A	G	7: 65,177,400 (GRCm39)	Y3H	possibly damaging	Het
Tkt	T	A	14: 30,291,102 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,133 (GRCm39)	N372I	possibly damaging	Het
Trpm2	T	C	10: 77,759,389 (GRCm39)	N1132D	probably benign	Het
Tsc22d1	T	C	14: 76,654,154 (GRCm39)	I211T	probably damaging	Het
Ttc39b	T	C	4: 83,180,088 (GRCm39)	K132E	possibly damaging	Het
Ttn	C	T	2: 76,553,932 (GRCm39)	V30924I	probably damaging	Het
Tubgcp6	G	A	15: 88,987,173 (GRCm39)	Q1267*	probably null	Het
Zfp30	C	A	7: 29,492,043 (GRCm39)	T180N	probably benign	Het
Zp2	A	G	7: 119,731,614 (GRCm39)	*714R	probably null	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
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
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'- AAAGCAGTTGTGGACACCCC -3'
(R):5'- CAGCTGCACCAGTATAATAGAAGG -3'

Sequencing Primer
(F):5'- GGACACCCCAGCCCCTG -3'
(R):5'- TATAATAGAAGGCTCCCGTGGCATC -3'

Posted On

2019-06-26