Mutagenetix > Incidental Mutation

Incidental Mutation 'R8076:Saal1'

629019

Institutional Source

Beutler Lab

Gene Symbol

Saal1

Ensembl Gene

ENSMUSG00000006763

Gene Name

serum amyloid A-like 1

Synonyms

5031425D22Rik

MMRRC Submission

067510-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R8076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46336581-46360085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46360031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 9 (P9L)

Ref Sequence

ENSEMBL: ENSMUSP00000120658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006956] [ENSMUST00000143082] [ENSMUST00000210913]

AlphaFold

Q9D2C2

Predicted Effect

probably benign
Transcript: ENSMUST00000006956

SMART Domains

Protein: ENSMUSP00000006956
Gene: ENSMUSG00000040026

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
SAA	21	122	1.12e-71	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143082
AA Change: P9L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120658
Gene: ENSMUSG00000006763
AA Change: P9L

Domain	Start	End	E-Value	Type
low complexity region	15	24	N/A	INTRINSIC
SCOP:d1gw5a_	40	455	2e-5	SMART
low complexity region	456	465	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210913

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	T	A	8: 25,452,938 (GRCm39)	R790*	probably null	Het
Adamts13	C	A	2: 26,880,624 (GRCm39)	P736T	probably benign	Het
Aldh3b2	T	A	19: 4,028,859 (GRCm39)	F176L	possibly damaging	Het
Aldoart2	A	G	12: 55,612,696 (GRCm39)	E207G	probably benign	Het
Arid4b	A	T	13: 14,361,535 (GRCm39)	E753D	probably benign	Het
Cd160	T	A	3: 96,709,662 (GRCm39)	T158S	probably benign	Het
Cd209g	T	A	8: 4,185,195 (GRCm39)	M1K	probably null	Het
Chrm4	A	G	2: 91,758,204 (GRCm39)	Y204C	probably damaging	Het
Cyld	T	A	8: 89,456,346 (GRCm39)	N465K	probably benign	Het
Dchs1	A	T	7: 105,405,128 (GRCm39)	H2471Q	possibly damaging	Het
Dchs1	A	G	7: 105,411,189 (GRCm39)	V1612A	probably damaging	Het
Ddx24	A	G	12: 103,382,477 (GRCm39)	V702A	probably damaging	Het
Dnah8	A	G	17: 31,003,127 (GRCm39)	T3609A	possibly damaging	Het
Dock5	A	T	14: 68,040,426 (GRCm39)		probably null	Het
Dpy19l2	C	T	9: 24,591,988 (GRCm39)	R205H	probably damaging	Het
Eif3a	A	T	19: 60,762,363 (GRCm39)	D473E	probably damaging	Het
Elapor1	G	T	3: 108,399,398 (GRCm39)	T64K	probably benign	Het
Elobl	T	C	11: 88,855,796 (GRCm39)	E89G	possibly damaging	Het
Fam186a	A	T	15: 99,841,351 (GRCm39)	I1631N	possibly damaging	Het
Fbn2	C	T	18: 58,159,496 (GRCm39)	W2411*	probably null	Het
Fbxl17	A	G	17: 63,367,360 (GRCm39)	I671T	probably damaging	Het
Glul	C	T	1: 153,782,868 (GRCm39)	T193I	possibly damaging	Het
Grm7	A	G	6: 111,543,000 (GRCm39)	Y907C	probably damaging	Het
H4c16	A	G	6: 136,781,124 (GRCm39)	M85T	probably benign	Het
Hr	A	G	14: 70,795,381 (GRCm39)	T309A	probably benign	Het
Ighg3	A	G	12: 113,324,158 (GRCm39)	S110P	probably benign	Het
Llgl2	A	G	11: 115,737,755 (GRCm39)	E180G	possibly damaging	Het
Mat2b	A	T	11: 40,576,092 (GRCm39)	L112Q	probably damaging	Het
Mcoln2	T	C	3: 145,896,169 (GRCm39)	M497T	probably damaging	Het
Mmp24	C	A	2: 155,649,481 (GRCm39)	Y299*	probably null	Het
Mtor	T	C	4: 148,610,260 (GRCm39)		probably null	Het
Olig2	C	A	16: 91,023,299 (GRCm39)	D4E	probably damaging	Het
Or10ag2	A	T	2: 87,248,889 (GRCm39)	I164L	probably benign	Het
Pard3	T	C	8: 128,142,077 (GRCm39)	S878P	probably damaging	Het
Pcgf5	C	T	19: 36,417,483 (GRCm39)	P137L	probably damaging	Het
Pck1	A	G	2: 172,997,071 (GRCm39)	N238D	probably damaging	Het
Pstpip1	T	C	9: 56,035,064 (GRCm39)	S346P	probably benign	Het
Qsox2	G	A	2: 26,114,897 (GRCm39)	H40Y	possibly damaging	Het
Rbpj	T	C	5: 53,799,479 (GRCm39)	I129T	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sema3c	A	G	5: 17,932,362 (GRCm39)	I622V	probably benign	Het
Sigirr	C	T	7: 140,671,785 (GRCm39)	V333M	probably benign	Het
Sort1	T	C	3: 108,246,183 (GRCm39)	S387P	probably damaging	Het
Spata31h1	A	C	10: 82,132,520 (GRCm39)	Y163*	probably null	Het
Spta1	T	A	1: 174,014,797 (GRCm39)	S426T	probably benign	Het
Stag3	G	A	5: 138,281,404 (GRCm39)	S124N	probably damaging	Het
Stard10	A	G	7: 100,993,176 (GRCm39)	Y244C	probably damaging	Het
Tcea3	T	A	4: 135,995,440 (GRCm39)	I261N	probably damaging	Het
Tdrd1	A	G	19: 56,832,267 (GRCm39)	K395E	probably damaging	Het
Tenm2	T	A	11: 35,918,048 (GRCm39)	D1905V	probably benign	Het
Trim12c	T	C	7: 103,990,037 (GRCm39)	Y480C	unknown	Het
Trip11	A	G	12: 101,849,741 (GRCm39)	V1441A	probably damaging	Het
Ttc21a	G	A	9: 119,795,392 (GRCm39)	R1107Q	probably benign	Het
Wdr41	A	G	13: 95,153,838 (GRCm39)	I296V	probably benign	Het
Zdbf2	T	A	1: 63,345,260 (GRCm39)	V1213E	possibly damaging	Het
Zfp37	T	C	4: 62,109,553 (GRCm39)	N545D	possibly damaging	Het

Other mutations in Saal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02727:Saal1	APN	7	46,339,223 (GRCm39)	splice site	probably null
IGL03301:Saal1	APN	7	46,351,944 (GRCm39)	splice site	probably benign
G5030:Saal1	UTSW	7	46,342,207 (GRCm39)	missense	probably damaging	1.00
R0021:Saal1	UTSW	7	46,342,316 (GRCm39)	missense	probably damaging	0.96
R0765:Saal1	UTSW	7	46,349,071 (GRCm39)	missense	possibly damaging	0.76
R1086:Saal1	UTSW	7	46,338,883 (GRCm39)	splice site	probably benign
R1273:Saal1	UTSW	7	46,342,366 (GRCm39)	missense	probably damaging	0.99
R1466:Saal1	UTSW	7	46,351,969 (GRCm39)	splice site	probably null
R1466:Saal1	UTSW	7	46,351,969 (GRCm39)	splice site	probably null
R1661:Saal1	UTSW	7	46,342,224 (GRCm39)	missense	possibly damaging	0.93
R1695:Saal1	UTSW	7	46,342,340 (GRCm39)	missense	probably damaging	0.97
R2018:Saal1	UTSW	7	46,348,913 (GRCm39)	missense	possibly damaging	0.93
R2058:Saal1	UTSW	7	46,348,880 (GRCm39)	missense	probably damaging	1.00
R2059:Saal1	UTSW	7	46,348,880 (GRCm39)	missense	probably damaging	1.00
R2326:Saal1	UTSW	7	46,342,235 (GRCm39)	missense	probably benign	0.02
R4182:Saal1	UTSW	7	46,360,076 (GRCm39)	unclassified	probably benign
R4704:Saal1	UTSW	7	46,349,164 (GRCm39)	intron	probably benign
R4831:Saal1	UTSW	7	46,349,071 (GRCm39)	missense	probably benign	0.22
R5270:Saal1	UTSW	7	46,351,157 (GRCm39)	intron	probably benign
R5471:Saal1	UTSW	7	46,349,072 (GRCm39)	missense	probably benign	0.06
R5790:Saal1	UTSW	7	46,351,352 (GRCm39)	missense	probably damaging	1.00
R6699:Saal1	UTSW	7	46,342,241 (GRCm39)	missense	probably damaging	1.00
R6804:Saal1	UTSW	7	46,349,064 (GRCm39)	frame shift	probably null
R6934:Saal1	UTSW	7	46,352,088 (GRCm39)	missense	probably benign	0.00
R7863:Saal1	UTSW	7	46,342,327 (GRCm39)	missense	probably benign	0.08
R9340:Saal1	UTSW	7	46,351,248 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAAGCCCAGTAAAGTACGTGC -3'
(R):5'- AGACCCCATGGATCCTACAG -3'

Sequencing Primer
(F):5'- TCTGGCAAGTTAGTCCATCGGC -3'
(R):5'- ATCCTACAGGTTCCCGGAC -3'

Posted On

2020-06-30