Mutagenetix > Incidental Mutation

Incidental Mutation 'R6804:Saal1'

533484

Institutional Source

Beutler Lab

Gene Symbol

Saal1

Ensembl Gene

ENSMUSG00000006763

Gene Name

serum amyloid A-like 1

Synonyms

5031425D22Rik

MMRRC Submission

044917-MU

Accession Numbers

Essential gene?

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

Stock #

R6804 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

46336581-46360085 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGCTTGCACGCCGT to G at 46349064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120658 (fasta)

Gene Model

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

AlphaFold

Q9D2C2

Predicted Effect

probably null
Transcript: ENSMUST00000143082

SMART Domains

Protein: ENSMUSP00000120658
Gene: ENSMUSG00000006763

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

Validation Efficiency

Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	T	1: 58,343,757 (GRCm39)	Q480L	probably benign	Het
Arid4b	T	A	13: 14,303,792 (GRCm39)	D72E	probably benign	Het
Avil	C	T	10: 126,844,175 (GRCm39)	Q245*	probably null	Het
BC048679	T	C	7: 81,146,612 (GRCm39)	S2G	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1d	T	C	14: 29,773,622 (GRCm39)	T1723A	probably benign	Het
Cfap91	T	C	16: 38,152,604 (GRCm39)	D202G	probably damaging	Het
Chil3	A	T	3: 106,071,495 (GRCm39)	Y56*	probably null	Het
Clec2i	A	G	6: 128,872,384 (GRCm39)	E172G	probably damaging	Het
Crybg1	C	T	10: 43,842,337 (GRCm39)	D1785N	probably damaging	Het
Csmd1	G	A	8: 16,087,260 (GRCm39)	R1930W	probably damaging	Het
D430041D05Rik	A	C	2: 103,979,371 (GRCm39)	S2019A	possibly damaging	Het
Ep300	T	A	15: 81,525,512 (GRCm39)	Y1445*	probably null	Het
Gne	A	G	4: 44,060,210 (GRCm39)	I61T	probably damaging	Het
Ifit3b	A	T	19: 34,588,947 (GRCm39)	Q41L	possibly damaging	Het
Kplce	T	C	3: 92,776,354 (GRCm39)	T110A	possibly damaging	Het
Llgl2	A	G	11: 115,734,141 (GRCm39)		probably null	Het
Mast3	T	C	8: 71,239,376 (GRCm39)	I417V	probably benign	Het
Mettl21e	T	A	1: 44,257,295 (GRCm39)	I8F	probably benign	Het
Ms4a2	A	G	19: 11,594,899 (GRCm39)	Y183H	probably damaging	Het
Naip6	C	G	13: 100,435,675 (GRCm39)	E949D	probably benign	Het
Nbea	T	C	3: 55,994,874 (GRCm39)	T181A	probably benign	Het
Nrg1	T	C	8: 32,311,292 (GRCm39)	R476G	probably damaging	Het
Olfm3	A	T	3: 114,916,328 (GRCm39)	Y400F	probably benign	Het
Or12d2	A	G	17: 37,625,021 (GRCm39)	S85P	probably damaging	Het
Or1e33	A	G	11: 73,738,240 (GRCm39)	V237A	probably benign	Het
Or2a25	A	T	6: 42,888,852 (GRCm39)	T132S	probably benign	Het
Or2y1e	A	G	11: 49,218,808 (GRCm39)	D190G	probably benign	Het
Pappa2	T	C	1: 158,764,438 (GRCm39)	S358G	probably benign	Het
Pde4dip	C	A	3: 97,700,564 (GRCm39)	E259*	probably null	Het
Phlpp2	T	A	8: 110,655,197 (GRCm39)	L664Q	probably damaging	Het
Prpf8	A	G	11: 75,390,635 (GRCm39)	K1262R	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sec31a	C	T	5: 100,530,671 (GRCm39)	V701I	probably benign	Het
Smarca2	A	T	19: 26,729,286 (GRCm39)	R12S	possibly damaging	Het
Spocd1	T	A	4: 129,847,423 (GRCm39)	C537*	probably null	Het
Syt14	T	C	1: 192,584,161 (GRCm39)	E701G	probably damaging	Het
Taf3	T	C	2: 9,923,028 (GRCm39)	Y32C	possibly damaging	Het
Tfeb	T	C	17: 48,100,735 (GRCm39)		probably null	Het
Ttc13	C	A	8: 125,426,426 (GRCm39)	R168L	probably damaging	Het
Vmn2r11	T	A	5: 109,201,350 (GRCm39)	N385Y	probably damaging	Het
Vmn2r54	T	C	7: 12,363,792 (GRCm39)	K367R	probably benign	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
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
R8076:Saal1	UTSW	7	46,360,031 (GRCm39)	missense	probably benign
R9340:Saal1	UTSW	7	46,351,248 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGACAGACGCTAGCACTGTC -3'
(R):5'- AGAGTCTATTTCGTTGGCCATTC -3'

Sequencing Primer
(F):5'- TTCCTGCAGTATGACAGGC -3'
(R):5'- TGGCCATTCCGTCCCACG -3'

Posted On

2018-09-12