Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Samd9l'

567305

Institutional Source

Beutler Lab

Gene Symbol

Samd9l

Ensembl Gene

ENSMUSG00000047735

Gene Name

sterile alpha motif domain containing 9-like

Synonyms

ESTM25

MMRRC Submission

045366-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3372257-3399572 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 3372600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 1554 (G1554*)

Ref Sequence

ENSEMBL: ENSMUSP00000112688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120087] [ENSMUST00000201638]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000120087
AA Change: G1554*

SMART Domains

Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: G1554*

Domain	Start	End	E-Value	Type
SCOP:d1kw4a_	8	75	4e-8	SMART
Blast:SAM	11	75	1e-30	BLAST
low complexity region	96	115	N/A	INTRINSIC
low complexity region	385	397	N/A	INTRINSIC
low complexity region	530	541	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201638

SMART Domains

Protein: ENSMUSP00000144632
Gene: ENSMUSG00000047735

Domain	Start	End	E-Value	Type
Pfam:Ste50p-SAM	10	80	1.2e-8	PFAM
Pfam:SAM_2	11	68	8.7e-6	PFAM
Pfam:SAM_1	12	71	2.5e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

PHENOTYPE: Mice that are either heterozygous or homozygous for a reporter allele develop myeloid diseases and acute myelogenous leukemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 17,118,395 (GRCm38)	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,813 (GRCm38)	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949 (GRCm38)	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 80,029,182 (GRCm38)	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,347,120 (GRCm38)		probably null	Het
B4galnt3	T	C	6: 120,215,431 (GRCm38)	D448G	probably benign	Het
Capn1	C	G	19: 5,993,908 (GRCm38)	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,399,384 (GRCm38)	S474P	probably benign	Het
Cdk12	T	A	11: 98,249,800 (GRCm38)	L1289*	probably null	Het
Cramp1l	A	T	17: 24,974,745 (GRCm38)	N920K	possibly damaging	Het
Cubn	C	T	2: 13,340,332 (GRCm38)	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,223,959 (GRCm38)	I581N	probably damaging	Het
Dnm2	A	T	9: 21,485,687 (GRCm38)	N487Y	probably damaging	Het
Enc1	A	C	13: 97,245,093 (GRCm38)	N37T	probably damaging	Het
Ephb3	T	G	16: 21,222,226 (GRCm38)	I932S	probably benign	Het
Frk	T	A	10: 34,591,938 (GRCm38)	M316K	probably damaging	Het
Gdap2	C	T	3: 100,202,033 (GRCm38)	R25C	unknown	Het
Gm10436	A	C	12: 88,181,749 (GRCm38)	C32W	probably damaging	Het
Gpat2	T	A	2: 127,434,890 (GRCm38)	D671E	probably damaging	Het
Gpr179	C	T	11: 97,338,846 (GRCm38)	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142 (GRCm38)	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,007,833 (GRCm38)	S69N	probably damaging	Het
Hid1	A	C	11: 115,348,482 (GRCm38)	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,343,081 (GRCm38)	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,619,769 (GRCm38)	F120L	probably damaging	Het
Kif16b	C	T	2: 142,712,931 (GRCm38)	R649Q	probably benign	Het
Kif17	A	T	4: 138,262,643 (GRCm38)	E47D	probably benign	Het
Kmt2b	T	C	7: 30,580,471 (GRCm38)	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,849,418 (GRCm38)	S3342T	unknown	Het
Krt82	A	G	15: 101,542,907 (GRCm38)	C356R	probably damaging	Het
Lrit2	A	G	14: 37,072,199 (GRCm38)	K407E	probably benign	Het
Malt1	T	A	18: 65,451,569 (GRCm38)	H325Q	possibly damaging	Het
Mccc2	T	G	13: 99,988,600 (GRCm38)	D187A	possibly damaging	Het
Mgll	T	A	6: 88,814,121 (GRCm38)		probably null	Het
Mindy2	T	G	9: 70,610,959 (GRCm38)	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,842,294 (GRCm38)	V96M	unknown	Het
Nlrp4e	A	G	7: 23,321,528 (GRCm38)	E480G	probably benign	Het
Nup98	A	G	7: 102,134,795 (GRCm38)	I1093T	probably benign	Het
Olfr1288	A	T	2: 111,478,760 (GRCm38)		probably benign	Het
Olfr243	G	T	7: 103,716,966 (GRCm38)	R124L	probably damaging	Het
Olfr350	G	A	2: 36,850,125 (GRCm38)	M26I	probably benign	Het
Olfr541	G	A	7: 140,705,147 (GRCm38)	V299I	probably benign	Het
Pcdhb6	A	T	18: 37,335,478 (GRCm38)	H484L	probably benign	Het
Phldb1	T	C	9: 44,694,047 (GRCm38)	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 72,070,964 (GRCm38)	A275D	probably damaging	Het
Polr2a	A	T	11: 69,747,292 (GRCm38)		probably null	Het
Polr3a	A	G	14: 24,459,987 (GRCm38)	C960R	probably benign	Het
Pou6f2	G	A	13: 18,239,713 (GRCm38)	A159V		Het
Pramef6	A	C	4: 143,896,775 (GRCm38)	Y276*	probably null	Het
Psmc4	A	G	7: 28,042,660 (GRCm38)	V303A	probably benign	Het
Ptdss2	A	G	7: 141,151,732 (GRCm38)	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,589,008 (GRCm38)	Y1295*	probably null	Het
Rbm19	A	G	5: 120,186,218 (GRCm38)	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,021,102 (GRCm38)	Y183*	probably null	Het
Rnd1	T	C	15: 98,670,799 (GRCm38)	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,418,179 (GRCm38)	C282S	probably damaging	Het
S100b	G	A	10: 76,257,092 (GRCm38)	G20R	probably benign	Het
Sae1	G	T	7: 16,368,544 (GRCm38)	Y168*	probably null	Het
Samhd1	T	C	2: 157,135,020 (GRCm38)	S55G	probably benign	Het
Sgsm1	T	C	5: 113,273,646 (GRCm38)	D525G	probably benign	Het
Slc28a3	A	T	13: 58,563,172 (GRCm38)	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,318,390 (GRCm38)	N67K	probably benign	Het
Smarca4	T	A	9: 21,638,800 (GRCm38)	I402N	probably damaging	Het
St7l	T	C	3: 104,889,353 (GRCm38)	F261L	probably benign	Het
Syde2	T	A	3: 146,015,798 (GRCm38)	V1140D	probably damaging	Het
Syt6	T	A	3: 103,587,472 (GRCm38)	I251N	probably damaging	Het
Taok2	T	C	7: 126,866,818 (GRCm38)	E916G	probably damaging	Het
Tecta	A	G	9: 42,377,992 (GRCm38)	S426P	probably damaging	Het
Thra	T	C	11: 98,764,308 (GRCm38)	I338T	probably damaging	Het
Trub1	A	T	19: 57,472,703 (GRCm38)	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,545 (GRCm38)	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,183,500 (GRCm38)	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,330,541 (GRCm38)	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,313,250 (GRCm38)	Y100H	probably damaging	Het

Other mutations in Samd9l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Samd9l	APN	6	3,376,779 (GRCm38)	missense	probably damaging	0.96
IGL00550:Samd9l	APN	6	3,374,594 (GRCm38)	missense	probably benign	0.00
IGL01100:Samd9l	APN	6	3,375,863 (GRCm38)	missense	possibly damaging	0.91
IGL01321:Samd9l	APN	6	3,376,259 (GRCm38)	missense	probably benign	0.42
IGL01553:Samd9l	APN	6	3,375,566 (GRCm38)	missense	probably damaging	0.99
IGL01575:Samd9l	APN	6	3,376,734 (GRCm38)	missense	possibly damaging	0.85
IGL01896:Samd9l	APN	6	3,375,120 (GRCm38)	missense	probably benign	0.02
IGL01915:Samd9l	APN	6	3,373,864 (GRCm38)	nonsense	probably null
IGL02063:Samd9l	APN	6	3,372,992 (GRCm38)	missense	probably damaging	1.00
IGL02066:Samd9l	APN	6	3,376,575 (GRCm38)	missense	probably damaging	1.00
IGL02145:Samd9l	APN	6	3,374,105 (GRCm38)	missense	probably benign	0.13
IGL02163:Samd9l	APN	6	3,374,246 (GRCm38)	missense	possibly damaging	0.90
IGL02256:Samd9l	APN	6	3,376,197 (GRCm38)	missense	probably damaging	1.00
IGL02508:Samd9l	APN	6	3,374,798 (GRCm38)	missense	probably damaging	1.00
IGL02591:Samd9l	APN	6	3,375,760 (GRCm38)	missense	possibly damaging	0.91
IGL02968:Samd9l	APN	6	3,376,026 (GRCm38)	missense	probably damaging	1.00
IGL03058:Samd9l	APN	6	3,374,980 (GRCm38)	missense	probably damaging	0.99
IGL03068:Samd9l	APN	6	3,375,348 (GRCm38)	nonsense	probably null
IGL03160:Samd9l	APN	6	3,374,894 (GRCm38)	missense	probably damaging	1.00
IGL03372:Samd9l	APN	6	3,375,314 (GRCm38)	missense	probably damaging	1.00
IGL03385:Samd9l	APN	6	3,376,208 (GRCm38)	missense	probably damaging	0.99
boston_lager	UTSW	6	3,375,761 (GRCm38)	missense	probably benign	0.12
ipa	UTSW	6	3,376,347 (GRCm38)	missense	probably damaging	1.00
Paine	UTSW	6	3,372,716 (GRCm38)	missense	probably damaging	0.99
samad	UTSW	6	3,374,032 (GRCm38)	nonsense	probably null
IGL03054:Samd9l	UTSW	6	3,376,023 (GRCm38)	missense	probably damaging	1.00
R0111:Samd9l	UTSW	6	3,374,946 (GRCm38)	missense	possibly damaging	0.80
R0112:Samd9l	UTSW	6	3,376,031 (GRCm38)	missense	possibly damaging	0.93
R0356:Samd9l	UTSW	6	3,375,107 (GRCm38)	missense	possibly damaging	0.69
R0370:Samd9l	UTSW	6	3,377,264 (GRCm38)	start gained	probably benign
R0398:Samd9l	UTSW	6	3,374,502 (GRCm38)	missense	probably damaging	1.00
R0744:Samd9l	UTSW	6	3,372,725 (GRCm38)	missense	possibly damaging	0.92
R0833:Samd9l	UTSW	6	3,372,725 (GRCm38)	missense	possibly damaging	0.92
R0880:Samd9l	UTSW	6	3,377,064 (GRCm38)	missense	probably damaging	0.99
R1110:Samd9l	UTSW	6	3,374,267 (GRCm38)	missense	probably benign	0.44
R1155:Samd9l	UTSW	6	3,376,939 (GRCm38)	missense	probably benign	0.01
R1268:Samd9l	UTSW	6	3,376,113 (GRCm38)	missense	possibly damaging	0.56
R1293:Samd9l	UTSW	6	3,373,947 (GRCm38)	missense	possibly damaging	0.93
R1478:Samd9l	UTSW	6	3,376,369 (GRCm38)	missense	probably benign	0.06
R1573:Samd9l	UTSW	6	3,375,426 (GRCm38)	missense	probably damaging	0.99
R1590:Samd9l	UTSW	6	3,375,761 (GRCm38)	missense	probably benign	0.12
R1611:Samd9l	UTSW	6	3,373,771 (GRCm38)	missense	probably benign	0.00
R1754:Samd9l	UTSW	6	3,373,126 (GRCm38)	missense	probably damaging	0.96
R1759:Samd9l	UTSW	6	3,373,401 (GRCm38)	missense	probably damaging	1.00
R1795:Samd9l	UTSW	6	3,375,264 (GRCm38)	nonsense	probably null
R1829:Samd9l	UTSW	6	3,375,107 (GRCm38)	missense	possibly damaging	0.69
R1935:Samd9l	UTSW	6	3,376,269 (GRCm38)	missense	probably benign	0.01
R2154:Samd9l	UTSW	6	3,372,945 (GRCm38)	missense	possibly damaging	0.91
R2228:Samd9l	UTSW	6	3,376,910 (GRCm38)	missense	probably benign	0.08
R3622:Samd9l	UTSW	6	3,374,032 (GRCm38)	nonsense	probably null
R3903:Samd9l	UTSW	6	3,376,830 (GRCm38)	nonsense	probably null
R3904:Samd9l	UTSW	6	3,376,830 (GRCm38)	nonsense	probably null
R3945:Samd9l	UTSW	6	3,377,029 (GRCm38)	missense	possibly damaging	0.71
R4091:Samd9l	UTSW	6	3,376,887 (GRCm38)	missense	probably benign	0.22
R4602:Samd9l	UTSW	6	3,373,937 (GRCm38)	frame shift	probably null
R4602:Samd9l	UTSW	6	3,373,935 (GRCm38)	missense	probably damaging	1.00
R4618:Samd9l	UTSW	6	3,376,347 (GRCm38)	missense	probably damaging	1.00
R4747:Samd9l	UTSW	6	3,375,504 (GRCm38)	nonsense	probably null
R4762:Samd9l	UTSW	6	3,375,623 (GRCm38)	missense	probably benign	0.01
R4814:Samd9l	UTSW	6	3,372,863 (GRCm38)	missense	probably damaging	0.98
R4934:Samd9l	UTSW	6	3,375,621 (GRCm38)	nonsense	probably null
R5026:Samd9l	UTSW	6	3,375,284 (GRCm38)	missense	possibly damaging	0.75
R5048:Samd9l	UTSW	6	3,374,157 (GRCm38)	missense	probably benign	0.35
R5130:Samd9l	UTSW	6	3,374,548 (GRCm38)	missense	possibly damaging	0.69
R5271:Samd9l	UTSW	6	3,376,156 (GRCm38)	missense	probably benign	0.02
R5328:Samd9l	UTSW	6	3,376,739 (GRCm38)	missense	probably damaging	0.99
R5507:Samd9l	UTSW	6	3,373,898 (GRCm38)	missense	possibly damaging	0.78
R5587:Samd9l	UTSW	6	3,373,291 (GRCm38)	missense	possibly damaging	0.84
R5846:Samd9l	UTSW	6	3,376,754 (GRCm38)	missense	probably benign
R5881:Samd9l	UTSW	6	3,372,716 (GRCm38)	missense	possibly damaging	0.70
R5889:Samd9l	UTSW	6	3,376,460 (GRCm38)	missense	probably damaging	1.00
R6131:Samd9l	UTSW	6	3,377,252 (GRCm38)	missense	probably benign	0.00
R6199:Samd9l	UTSW	6	3,376,686 (GRCm38)	missense	probably benign	0.13
R6298:Samd9l	UTSW	6	3,375,383 (GRCm38)	missense	probably damaging	1.00
R6331:Samd9l	UTSW	6	3,376,361 (GRCm38)	missense	probably damaging	1.00
R6489:Samd9l	UTSW	6	3,376,896 (GRCm38)	missense	probably benign
R6601:Samd9l	UTSW	6	3,377,229 (GRCm38)	missense	possibly damaging	0.74
R6655:Samd9l	UTSW	6	3,377,247 (GRCm38)	missense	probably benign	0.22
R6803:Samd9l	UTSW	6	3,375,446 (GRCm38)	missense	probably damaging	0.97
R6864:Samd9l	UTSW	6	3,374,750 (GRCm38)	missense	probably benign	0.14
R6905:Samd9l	UTSW	6	3,375,387 (GRCm38)	missense	probably damaging	0.99
R6919:Samd9l	UTSW	6	3,376,313 (GRCm38)	missense	possibly damaging	0.88
R7060:Samd9l	UTSW	6	3,372,716 (GRCm38)	missense	probably damaging	0.99
R7073:Samd9l	UTSW	6	3,375,856 (GRCm38)	nonsense	probably null
R7250:Samd9l	UTSW	6	3,374,201 (GRCm38)	missense	possibly damaging	0.78
R7351:Samd9l	UTSW	6	3,374,157 (GRCm38)	missense	probably benign	0.35
R7423:Samd9l	UTSW	6	3,374,408 (GRCm38)	missense	probably damaging	1.00
R7610:Samd9l	UTSW	6	3,376,754 (GRCm38)	missense	probably benign
R7667:Samd9l	UTSW	6	3,375,975 (GRCm38)	missense	possibly damaging	0.87
R7672:Samd9l	UTSW	6	3,373,646 (GRCm38)	missense	probably benign	0.16
R7680:Samd9l	UTSW	6	3,376,469 (GRCm38)	missense	probably damaging	1.00
R7680:Samd9l	UTSW	6	3,372,569 (GRCm38)	missense	probably damaging	1.00
R7814:Samd9l	UTSW	6	3,374,793 (GRCm38)	missense	possibly damaging	0.86
R7829:Samd9l	UTSW	6	3,374,749 (GRCm38)	missense	probably benign	0.00
R8000:Samd9l	UTSW	6	3,373,034 (GRCm38)	missense	probably damaging	1.00
R8098:Samd9l	UTSW	6	3,375,549 (GRCm38)	missense	probably damaging	1.00
R8698:Samd9l	UTSW	6	3,373,843 (GRCm38)	missense	probably benign	0.06
R8785:Samd9l	UTSW	6	3,377,064 (GRCm38)	missense	probably damaging	0.99
R8795:Samd9l	UTSW	6	3,374,221 (GRCm38)	nonsense	probably null
R8806:Samd9l	UTSW	6	3,376,665 (GRCm38)	missense	probably damaging	0.99
R8832:Samd9l	UTSW	6	3,374,990 (GRCm38)	missense	probably damaging	1.00
R8954:Samd9l	UTSW	6	3,374,577 (GRCm38)	missense	probably damaging	0.98
R9023:Samd9l	UTSW	6	3,373,791 (GRCm38)	missense	probably damaging	1.00
R9051:Samd9l	UTSW	6	3,373,493 (GRCm38)	missense	probably benign	0.16
R9108:Samd9l	UTSW	6	3,373,104 (GRCm38)	missense	possibly damaging	0.71
R9213:Samd9l	UTSW	6	3,376,856 (GRCm38)	missense	probably benign	0.23
R9494:Samd9l	UTSW	6	3,375,830 (GRCm38)	missense	possibly damaging	0.51
R9504:Samd9l	UTSW	6	3,372,621 (GRCm38)	missense	probably benign	0.17
R9655:Samd9l	UTSW	6	3,373,578 (GRCm38)	missense	probably benign	0.00
R9688:Samd9l	UTSW	6	3,377,087 (GRCm38)	missense	probably damaging	1.00
R9696:Samd9l	UTSW	6	3,375,078 (GRCm38)	missense	possibly damaging	0.76
R9721:Samd9l	UTSW	6	3,375,854 (GRCm38)	missense	possibly damaging	0.69
X0026:Samd9l	UTSW	6	3,375,560 (GRCm38)	missense	probably damaging	1.00
X0066:Samd9l	UTSW	6	3,374,477 (GRCm38)	missense	probably damaging	1.00
Z1176:Samd9l	UTSW	6	3,376,770 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCTACAAAGTTTCCCATAACTG -3'
(R):5'- AATCGAGCGCTACTTCAGTG -3'

Sequencing Primer
(F):5'- CAAAGTTTCCCATAACTGATACAGAG -3'
(R):5'- CAGTGAAGTGCAAGATTCAAATTCC -3'

Posted On

2019-06-26