Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00325:Ssc5d'

5337

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ssc5d

Ensembl Gene

ENSMUSG00000035279

Gene Name

scavenger receptor cysteine rich family, 5 domains

Synonyms

A430110N23Rik, s5d-srcrb

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00325

Quality Score

Status

Chromosome

Chromosomal Location

4928820-4947827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4947480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1278 (V1278A)

Ref Sequence

ENSEMBL: ENSMUSP00000052126 (fasta)

Gene Model

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

AlphaFold

Q8BV57

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057612
AA Change: V1278A

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: V1278A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,773,517 (GRCm39)	S431P	possibly damaging	Het
Arid1b	C	A	17: 5,387,385 (GRCm39)	R1613S	possibly damaging	Het
Atxn2l	T	C	7: 126,097,460 (GRCm39)	D196G	possibly damaging	Het
Bag3	C	A	7: 128,148,065 (GRCm39)	T560K	probably benign	Het
BC051076	A	G	5: 88,112,354 (GRCm39)		probably benign	Het
Becn1	A	T	11: 101,186,448 (GRCm39)	M18K	probably benign	Het
C130050O18Rik	G	A	5: 139,400,493 (GRCm39)	C182Y	probably damaging	Het
Cfap43	A	G	19: 47,811,627 (GRCm39)		probably benign	Het
Cfap97	C	T	8: 46,623,222 (GRCm39)	S204L	probably damaging	Het
Gaa	A	G	11: 119,165,786 (GRCm39)	T100A	probably benign	Het
Gab2	C	T	7: 96,948,465 (GRCm39)	P352S	probably damaging	Het
Gckr	T	A	5: 31,465,111 (GRCm39)	I360N	possibly damaging	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gulo	G	T	14: 66,243,398 (GRCm39)	A40D	probably damaging	Het
Irs1	T	C	1: 82,266,204 (GRCm39)	I671V	probably benign	Het
Itgax	T	C	7: 127,747,481 (GRCm39)	V1028A	possibly damaging	Het
Lamb3	T	C	1: 193,002,755 (GRCm39)	C67R	probably damaging	Het
Mpdz	A	T	4: 81,235,868 (GRCm39)	V1237E	probably damaging	Het
Nat8	C	T	6: 85,807,579 (GRCm39)	V185M	probably benign	Het
Ninj2	A	C	6: 120,175,023 (GRCm39)	T65P	probably benign	Het
Nrg2	T	C	18: 36,154,271 (GRCm39)	M549V	probably benign	Het
Nwd2	A	G	5: 63,962,818 (GRCm39)	M801V	probably benign	Het
Pde8b	T	C	13: 95,170,875 (GRCm39)	D589G	probably damaging	Het
Ppp1r35	T	A	5: 137,777,799 (GRCm39)	V155E	probably damaging	Het
Prss36	T	A	7: 127,544,099 (GRCm39)		probably benign	Het
Raver2	A	G	4: 100,960,065 (GRCm39)	K182E	probably damaging	Het
Ring1	T	G	17: 34,241,983 (GRCm39)	E142A	possibly damaging	Het
Sidt2	T	A	9: 45,853,534 (GRCm39)	M689L	possibly damaging	Het
Slc45a4	A	G	15: 73,459,504 (GRCm39)	V95A	probably damaging	Het
Stk36	A	T	1: 74,673,861 (GRCm39)	K1251N	possibly damaging	Het
Utp14b	T	A	1: 78,642,262 (GRCm39)	S53R	probably damaging	Het
Vmn2r17	A	T	5: 109,575,858 (GRCm39)	E243V	probably benign	Het

Other mutations in Ssc5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20