Mutagenetix > Incidental Mutation

Incidental Mutation 'R5553:Ssc5d'

435222

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

043110-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5553 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4928820-4947827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4939289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 575 (D575V)

Ref Sequence

ENSEMBL: ENSMUSP00000052126 (fasta)

Gene Model

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

AlphaFold

Q8BV57

Predicted Effect

probably damaging
Transcript: ENSMUST00000057612
AA Change: D575V

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

SMART Domains

Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: D575V

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,792,690 (GRCm39)	I86F	probably damaging	Het
Abca13	C	T	11: 9,278,158 (GRCm39)	L3113F	probably damaging	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Ano8	T	A	8: 71,937,641 (GRCm39)		probably null	Het
Arid1b	A	T	17: 5,364,152 (GRCm39)	S1041C	probably damaging	Het
Bsn	T	A	9: 107,987,620 (GRCm39)		probably benign	Het
Cbr3	A	G	16: 93,480,451 (GRCm39)	E80G	possibly damaging	Het
Chd1	A	G	17: 17,605,875 (GRCm39)	E271G	probably benign	Het
Dock3	T	A	9: 106,868,309 (GRCm39)	K658N	possibly damaging	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,619,462 (GRCm39)		probably benign	Het
Dppa1	T	A	11: 46,503,861 (GRCm39)		probably null	Het
Fen1	T	C	19: 10,177,787 (GRCm39)	N219S	probably benign	Het
Fsip2	A	G	2: 82,793,090 (GRCm39)	T416A	probably benign	Het
Gm14393	A	T	2: 174,903,639 (GRCm39)	C89*	probably null	Het
Grin2c	C	T	11: 115,143,551 (GRCm39)	M736I	probably null	Het
Heatr5b	A	T	17: 79,060,780 (GRCm39)		probably null	Het
Hspbap1	G	T	16: 35,621,967 (GRCm39)	W104L	probably damaging	Het
Igfn1	C	T	1: 135,895,622 (GRCm39)	G1648E	probably damaging	Het
Irf4	A	G	13: 30,935,811 (GRCm39)	Y122C	probably damaging	Het
Kremen2	A	G	17: 23,960,776 (GRCm39)		probably benign	Het
Niban1	C	T	1: 151,592,986 (GRCm39)	T557M	probably damaging	Het
Nubpl	T	A	12: 52,228,082 (GRCm39)	L169M	possibly damaging	Het
Nwd1	T	C	8: 73,431,604 (GRCm39)	S1200P	possibly damaging	Het
Or1j20	A	G	2: 36,760,477 (GRCm39)	I300V	probably benign	Het
Or5p61	A	T	7: 107,758,478 (GRCm39)	S201T	probably benign	Het
Parp14	G	T	16: 35,677,306 (GRCm39)	H887Q	probably benign	Het
Paxip1	G	A	5: 27,980,637 (GRCm39)		probably benign	Het
Piwil1	T	C	5: 128,822,565 (GRCm39)	M392T	probably benign	Het
Plekhm3	T	C	1: 64,961,045 (GRCm39)	S404G	possibly damaging	Het
Prelid3a	T	C	18: 67,610,093 (GRCm39)	L141P	probably damaging	Het
Ptprb	T	A	10: 116,186,090 (GRCm39)	V1715E	probably damaging	Het
Rc3h2	G	A	2: 37,288,323 (GRCm39)	R420*	probably null	Het
Selenon	C	A	4: 134,268,228 (GRCm39)	R435L	probably damaging	Het
Slc29a4	T	C	5: 142,705,791 (GRCm39)	L425P	probably damaging	Het
Slc30a9	T	A	5: 67,502,947 (GRCm39)		probably null	Het
Slc9a5	T	C	8: 106,083,672 (GRCm39)	V404A	probably damaging	Het
Ttn	A	C	2: 76,721,940 (GRCm39)		probably null	Het
Vmn2r100	A	G	17: 19,725,110 (GRCm39)	Q13R	possibly damaging	Het
Wfikkn1	T	A	17: 26,097,468 (GRCm39)	L285F	possibly damaging	Het
Zcchc17	A	G	4: 130,247,927 (GRCm39)		probably null	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
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
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'- AGCACACTTAGTATAGATTGCCTT -3'
(R):5'- AGTGGTTGGTCTCCTTGCAT -3'

Sequencing Primer
(F):5'- TTCAGACCTTCGGAAGAGCAGTC -3'
(R):5'- GCATTTTTAGTCACCCACTTCTTGG -3'

Posted On

2016-10-24