Mutagenetix > Incidental Mutation

Incidental Mutation 'R4322:Ssc5d'

323873

Institutional Source

Beutler Lab

Gene Symbol

Ssc5d

Ensembl Gene

ENSMUSG00000035279

Gene Name

scavenger receptor cysteine rich family, 5 domains

Synonyms

A430110N23Rik, s5d-srcrb

MMRRC Submission

041093-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4322 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4928820-4947827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4931449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 219 (R219C)

Ref Sequence

ENSEMBL: ENSMUSP00000052126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047309] [ENSMUST00000057612] [ENSMUST00000207506] [ENSMUST00000207527] [ENSMUST00000207687] [ENSMUST00000208754]

AlphaFold

Q8BV57

Predicted Effect

probably benign
Transcript: ENSMUST00000047309

SMART Domains

Protein: ENSMUSP00000045354
Gene: ENSMUSG00000035285

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
low complexity region	88	97	N/A	INTRINSIC
Pfam:Acetyltransf_1	101	186	4.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000057612
AA Change: R219C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: R219C

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
SR	20	120	4.44e-49	SMART
low complexity region	141	155	N/A	INTRINSIC
low complexity region	167	182	N/A	INTRINSIC
SR	199	299	2.36e-53	SMART
SR	305	405	8.22e-53	SMART
low complexity region	437	462	N/A	INTRINSIC
SR	464	565	1.11e-49	SMART
low complexity region	741	755	N/A	INTRINSIC
SR	758	858	3.93e-50	SMART
low complexity region	936	957	N/A	INTRINSIC
low complexity region	981	1004	N/A	INTRINSIC
low complexity region	1018	1035	N/A	INTRINSIC
low complexity region	1218	1230	N/A	INTRINSIC
low complexity region	1357	1364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207506

Predicted Effect

probably benign
Transcript: ENSMUST00000207527

Predicted Effect

probably benign
Transcript: ENSMUST00000207687

Predicted Effect

probably benign
Transcript: ENSMUST00000208754

Meta Mutation Damage Score

0.3810

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

94% (48/51)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	G	A	4: 154,751,701 (GRCm39)	A145V	probably damaging	Het
Allc	C	A	12: 28,604,023 (GRCm39)	L353F	probably benign	Het
Alx3	C	T	3: 107,502,691 (GRCm39)	P67L	probably benign	Het
Arhgef10l	C	A	4: 140,270,037 (GRCm39)	G882V	probably benign	Het
Asb13	G	T	13: 3,695,012 (GRCm39)	R160L	possibly damaging	Het
Atxn7l2	A	T	3: 108,113,148 (GRCm39)	D218E	probably damaging	Het
Bdp1	T	A	13: 100,228,731 (GRCm39)	N299I	probably damaging	Het
Ccdc80	G	T	16: 44,915,951 (GRCm39)	V236L	probably damaging	Het
Cdhr2	A	T	13: 54,881,534 (GRCm39)	I1085L	probably benign	Het
Csn2	C	T	5: 87,845,886 (GRCm39)		probably null	Het
Dnajb14	G	A	3: 137,591,060 (GRCm39)	G54S	probably damaging	Het
Fyb1	T	A	15: 6,610,300 (GRCm39)	L291Q	possibly damaging	Het
Ggcx	A	G	6: 72,405,803 (GRCm39)	S545G	probably benign	Het
Gm12250	G	A	11: 58,079,126 (GRCm39)		noncoding transcript	Het
Hipk3	C	A	2: 104,276,916 (GRCm39)	V388L	probably damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Kng1	A	C	16: 22,898,270 (GRCm39)	M557L	probably benign	Het
Lilrb4a	T	C	10: 51,367,707 (GRCm39)	F83S	probably damaging	Het
Lmcd1	A	G	6: 112,292,724 (GRCm39)	E192G	possibly damaging	Het
Lrp2	C	A	2: 69,256,335 (GRCm39)	E4602*	probably null	Het
Mc4r	T	C	18: 66,992,121 (GRCm39)	R331G	probably benign	Het
Mybpc3	A	G	2: 90,954,306 (GRCm39)	D393G	possibly damaging	Het
Or2y1f	G	A	11: 49,184,503 (GRCm39)	M118I	probably damaging	Het
Or4c10b	A	G	2: 89,712,078 (GRCm39)	K303E	probably benign	Het
Or5p69	C	T	7: 107,967,555 (GRCm39)	P286L	probably damaging	Het
Orc1	G	A	4: 108,445,973 (GRCm39)	M30I	probably benign	Het
Pira13	A	G	7: 3,825,754 (GRCm39)	S372P	possibly damaging	Het
Pot1a	T	C	6: 25,745,929 (GRCm39)	T591A	probably benign	Het
Rnf125	G	A	18: 21,110,817 (GRCm39)	R25K	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sh3rf2	A	T	18: 42,244,464 (GRCm39)	H310L	probably damaging	Het
Shld2	G	T	14: 33,981,632 (GRCm39)	T502K	probably damaging	Het
Srgap1	T	C	10: 121,705,711 (GRCm39)	K238E	probably damaging	Het
Them5	C	A	3: 94,253,463 (GRCm39)	H158N	probably damaging	Het
Vmn1r203	A	T	13: 22,708,408 (GRCm39)	N63I	probably damaging	Het
Vps41	T	A	13: 19,007,960 (GRCm39)	F264L	probably damaging	Het
Vtn	A	T	11: 78,390,916 (GRCm39)		probably benign	Het

Other mutations in Ssc5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Ssc5d	APN	7	4,947,480 (GRCm39)	missense	possibly damaging	0.63
IGL00939:Ssc5d	APN	7	4,939,280 (GRCm39)	missense	possibly damaging	0.89
IGL01109:Ssc5d	APN	7	4,940,111 (GRCm39)	nonsense	probably null
IGL01409:Ssc5d	APN	7	4,945,808 (GRCm39)	missense	probably benign	0.16
IGL01880:Ssc5d	APN	7	4,936,218 (GRCm39)	missense	probably damaging	1.00
IGL02013:Ssc5d	APN	7	4,946,835 (GRCm39)	missense	probably benign	0.00
IGL02227:Ssc5d	APN	7	4,936,453 (GRCm39)	critical splice donor site	probably null
IGL02963:Ssc5d	APN	7	4,947,326 (GRCm39)	missense	probably benign	0.02
D4043:Ssc5d	UTSW	7	4,946,982 (GRCm39)	missense	possibly damaging	0.70
D4216:Ssc5d	UTSW	7	4,946,982 (GRCm39)	missense	possibly damaging	0.70
R0104:Ssc5d	UTSW	7	4,939,285 (GRCm39)	missense	probably benign	0.41
R0115:Ssc5d	UTSW	7	4,930,880 (GRCm39)	unclassified	probably benign
R0201:Ssc5d	UTSW	7	4,947,662 (GRCm39)	missense	probably benign
R0365:Ssc5d	UTSW	7	4,931,466 (GRCm39)	nonsense	probably null
R0485:Ssc5d	UTSW	7	4,940,470 (GRCm39)	missense	probably damaging	0.99
R0967:Ssc5d	UTSW	7	4,947,342 (GRCm39)	nonsense	probably null
R1607:Ssc5d	UTSW	7	4,947,042 (GRCm39)	missense	probably benign	0.25
R1639:Ssc5d	UTSW	7	4,931,416 (GRCm39)	missense	probably damaging	1.00
R1801:Ssc5d	UTSW	7	4,939,606 (GRCm39)	missense	probably benign	0.05
R1867:Ssc5d	UTSW	7	4,931,506 (GRCm39)	missense	probably damaging	1.00
R1999:Ssc5d	UTSW	7	4,945,713 (GRCm39)	missense	possibly damaging	0.86
R2007:Ssc5d	UTSW	7	4,931,628 (GRCm39)	missense	probably damaging	1.00
R2084:Ssc5d	UTSW	7	4,940,011 (GRCm39)	missense	probably benign	0.01
R2234:Ssc5d	UTSW	7	4,946,849 (GRCm39)	missense	probably benign
R2259:Ssc5d	UTSW	7	4,946,915 (GRCm39)	missense	probably benign	0.01
R2567:Ssc5d	UTSW	7	4,939,334 (GRCm39)	missense	probably damaging	1.00
R2879:Ssc5d	UTSW	7	4,939,906 (GRCm39)	critical splice acceptor site	probably null
R3782:Ssc5d	UTSW	7	4,945,790 (GRCm39)	missense	probably benign	0.00
R3875:Ssc5d	UTSW	7	4,930,261 (GRCm39)	missense	probably damaging	1.00
R4331:Ssc5d	UTSW	7	4,945,725 (GRCm39)	missense	probably benign	0.00
R4334:Ssc5d	UTSW	7	4,946,663 (GRCm39)	missense	probably benign
R4430:Ssc5d	UTSW	7	4,946,663 (GRCm39)	missense	probably benign
R4619:Ssc5d	UTSW	7	4,932,524 (GRCm39)	missense	probably damaging	1.00
R4794:Ssc5d	UTSW	7	4,946,744 (GRCm39)	missense	probably benign
R5106:Ssc5d	UTSW	7	4,939,664 (GRCm39)	missense	probably benign	0.31
R5174:Ssc5d	UTSW	7	4,930,970 (GRCm39)	missense	possibly damaging	0.83
R5553:Ssc5d	UTSW	7	4,939,289 (GRCm39)	missense	probably damaging	1.00
R5649:Ssc5d	UTSW	7	4,929,517 (GRCm39)	critical splice donor site	probably null
R5786:Ssc5d	UTSW	7	4,939,817 (GRCm39)	missense	probably benign	0.00
R6059:Ssc5d	UTSW	7	4,945,743 (GRCm39)	missense	possibly damaging	0.86
R6163:Ssc5d	UTSW	7	4,930,253 (GRCm39)	missense	probably damaging	1.00
R6332:Ssc5d	UTSW	7	4,940,521 (GRCm39)	missense	probably damaging	1.00
R6341:Ssc5d	UTSW	7	4,939,664 (GRCm39)	missense	probably benign	0.31
R6613:Ssc5d	UTSW	7	4,936,292 (GRCm39)	missense	possibly damaging	0.82
R7180:Ssc5d	UTSW	7	4,939,600 (GRCm39)	missense	probably benign	0.17
R7576:Ssc5d	UTSW	7	4,931,572 (GRCm39)	missense	probably damaging	1.00
R7602:Ssc5d	UTSW	7	4,945,745 (GRCm39)	missense	possibly damaging	0.95
R7609:Ssc5d	UTSW	7	4,930,575 (GRCm39)	missense	possibly damaging	0.56
R7691:Ssc5d	UTSW	7	4,947,168 (GRCm39)	missense	probably benign	0.29
R7759:Ssc5d	UTSW	7	4,940,529 (GRCm39)	nonsense	probably null
R8480:Ssc5d	UTSW	7	4,939,328 (GRCm39)	missense	probably damaging	1.00
R9029:Ssc5d	UTSW	7	4,930,919 (GRCm39)	missense	probably damaging	0.97
R9163:Ssc5d	UTSW	7	4,936,432 (GRCm39)	missense	probably damaging	1.00
R9178:Ssc5d	UTSW	7	4,930,058 (GRCm39)	missense	probably damaging	1.00
R9181:Ssc5d	UTSW	7	4,945,814 (GRCm39)	missense	possibly damaging	0.86
R9382:Ssc5d	UTSW	7	4,930,283 (GRCm39)	critical splice donor site	probably null
R9489:Ssc5d	UTSW	7	4,940,599 (GRCm39)	missense	probably benign	0.02
R9626:Ssc5d	UTSW	7	4,946,568 (GRCm39)	missense	probably benign
R9630:Ssc5d	UTSW	7	4,939,426 (GRCm39)	missense	probably damaging	1.00
R9776:Ssc5d	UTSW	7	4,932,367 (GRCm39)	missense	probably benign	0.07
X0063:Ssc5d	UTSW	7	4,939,286 (GRCm39)	missense	probably damaging	1.00
Z1088:Ssc5d	UTSW	7	4,931,433 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTAAACAAACAGGAAGCTGCC -3'
(R):5'- TCAAGAAAGCTGAGGCCCAG -3'

Sequencing Primer
(F):5'- GCCCCCTCCAAGCTGACATTAG -3'
(R):5'- ATCCTCGGTGTGGTCACAG -3'

Posted On

2015-06-24