Mutagenetix > Incidental Mutation

Incidental Mutation 'R0104:Ssc5d'

17044

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

038390-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0104 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

4928820-4947827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4939285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 574 (S574P)

Ref Sequence

ENSEMBL: ENSMUSP00000052126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057612] [ENSMUST00000208109]

AlphaFold

Q8BV57

Predicted Effect

probably benign
Transcript: ENSMUST00000057612
AA Change: S574P

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: S574P

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

noncoding transcript
Transcript: ENSMUST00000207310

Predicted Effect

probably benign
Transcript: ENSMUST00000208109

Meta Mutation Damage Score

0.0953

Coding Region Coverage

1x: 75.5%
3x: 52.6%
10x: 7.5%
20x: 3.0%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	C	A	4: 124,504,469 (GRCm39)	A28S	probably damaging	Het
Arhgap5	A	T	12: 52,563,500 (GRCm39)	D157V	probably damaging	Het
Cfap54	G	T	10: 92,864,514 (GRCm39)	H142N	probably damaging	Het
Dpp10	A	T	1: 123,295,572 (GRCm39)	M525K	probably benign	Het
Fsip2	A	T	2: 82,809,317 (GRCm39)	T1879S	possibly damaging	Het
Gm14129	T	C	2: 148,773,493 (GRCm39)		noncoding transcript	Het
Ighv2-7	A	T	12: 113,771,088 (GRCm39)	W66R	probably damaging	Het
Kif11	T	A	19: 37,401,663 (GRCm39)	V880D	probably benign	Het
Mcpt1	T	A	14: 56,256,888 (GRCm39)	M142K	possibly damaging	Het
Mlst8	T	C	17: 24,695,091 (GRCm39)	N264S	possibly damaging	Het
Nmrk1	T	A	19: 18,618,582 (GRCm39)	S88R	probably benign	Het
Or14j2	T	A	17: 37,885,817 (GRCm39)	I166F	probably damaging	Het
Or8d23	A	G	9: 38,842,261 (GRCm39)	S265G	possibly damaging	Het
Rtn1	A	T	12: 72,355,619 (GRCm39)	I109N	probably damaging	Het
Slc15a2	T	A	16: 36,594,997 (GRCm39)	L156F	possibly damaging	Het
Slc22a21	A	C	11: 53,842,635 (GRCm39)	M498R	probably null	Het
Taf2	T	C	15: 54,901,734 (GRCm39)	D820G	probably benign	Het
Tas2r135	A	T	6: 42,383,258 (GRCm39)	I266F	possibly damaging	Het
Trgv4	C	T	13: 19,369,480 (GRCm39)	H75Y	probably damaging	Het
Vil1	A	G	1: 74,457,525 (GRCm39)	K53E	probably benign	Het
Zfc3h1	T	A	10: 115,251,192 (GRCm39)	M1261K	possibly damaging	Het
Zfp655	T	C	5: 145,180,825 (GRCm39)	S228P	probably damaging	Het
Zfyve9	C	A	4: 108,575,360 (GRCm39)	D574Y	probably damaging	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
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
R4322:Ssc5d	UTSW	7	4,931,449 (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

Posted On

2013-01-20