Mutagenetix > Incidental Mutation

Incidental Mutation 'R1110:Samd9l'

96603

Institutional Source

Beutler Lab

Gene Symbol

Samd9l

Ensembl Gene

ENSMUSG00000047735

Gene Name

sterile alpha motif domain containing 9-like

Synonyms

ESTM25

MMRRC Submission

039183-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3372257-3399571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3374267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 998 (D998V)

Ref Sequence

ENSEMBL: ENSMUSP00000112688 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000120087
AA Change: D998V

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: D998V

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

Meta Mutation Damage Score

0.2898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

97% (63/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	T	A	4: 155,989,856 (GRCm39)		probably null	Het
Acp2	A	G	2: 91,038,767 (GRCm39)		probably null	Het
Akap13	T	G	7: 75,261,125 (GRCm39)	S447A	possibly damaging	Het
Alk	G	A	17: 72,291,740 (GRCm39)		probably benign	Het
Arhgef39	T	C	4: 43,496,834 (GRCm39)	T327A	probably benign	Het
Calhm5	T	G	10: 33,972,013 (GRCm39)	I141L	probably benign	Het
Cdan1	G	A	2: 120,551,083 (GRCm39)	A1103V	probably damaging	Het
Cdh18	A	G	15: 23,474,403 (GRCm39)	T758A	probably benign	Het
Cdk17	T	A	10: 93,074,895 (GRCm39)	Y3*	probably null	Het
Cdon	T	C	9: 35,367,733 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,222,119 (GRCm39)	N460I	probably benign	Het
Cntrl	T	A	2: 35,050,639 (GRCm39)	C985S	possibly damaging	Het
Col6a2	T	C	10: 76,443,574 (GRCm39)	E497G	probably benign	Het
Crybg1	A	G	10: 43,875,089 (GRCm39)	M673T	possibly damaging	Het
Cyp2u1	A	G	3: 131,087,258 (GRCm39)	I441T	possibly damaging	Het
Disp2	T	C	2: 118,620,920 (GRCm39)	S551P	probably damaging	Het
Dock2	A	T	11: 34,206,535 (GRCm39)	F1354I	possibly damaging	Het
Dstyk	A	G	1: 132,381,063 (GRCm39)		probably benign	Het
Dzip1	T	C	14: 119,126,717 (GRCm39)	N527S	probably benign	Het
Eomes	A	G	9: 118,313,667 (GRCm39)	I571V	probably benign	Het
Fbxl13	T	C	5: 21,689,034 (GRCm39)	D758G	probably benign	Het
Frem1	T	C	4: 82,868,557 (GRCm39)	S1457G	probably damaging	Het
Gabbr2	C	T	4: 46,718,838 (GRCm39)	C613Y	probably damaging	Het
Gm9755	A	T	8: 67,967,710 (GRCm39)		noncoding transcript	Het
Hnrnpul2	A	G	19: 8,804,110 (GRCm39)	R570G	probably damaging	Het
Ift70a1	A	T	2: 75,810,320 (GRCm39)	C588S	probably damaging	Het
Igdcc4	A	G	9: 65,034,208 (GRCm39)	H674R	possibly damaging	Het
Kdm5d	T	A	Y: 910,539 (GRCm39)	L250H	probably damaging	Het
Kif1a	T	C	1: 92,951,175 (GRCm39)		probably benign	Het
Kmt2c	T	C	5: 25,519,360 (GRCm39)	N2250S	probably benign	Het
Kmt2e	C	T	5: 23,707,653 (GRCm39)	H1739Y	probably damaging	Het
Lmtk3	T	A	7: 45,444,427 (GRCm39)		probably benign	Het
Lpin3	A	G	2: 160,735,999 (GRCm39)	D93G	probably benign	Het
Myh10	T	C	11: 68,682,676 (GRCm39)		probably benign	Het
Myom2	G	A	8: 15,172,413 (GRCm39)	E1171K	probably benign	Het
Ncoa6	A	T	2: 155,253,440 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,563,563 (GRCm39)		probably benign	Het
Oit3	G	A	10: 59,264,016 (GRCm39)	R373C	probably damaging	Het
Olfml2a	A	T	2: 38,849,765 (GRCm39)	I494L	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or9r7	A	G	10: 129,962,522 (GRCm39)	Y135H	probably damaging	Het
Parp6	G	T	9: 59,556,847 (GRCm39)	C584F	probably damaging	Het
Pcgf2	A	G	11: 97,582,676 (GRCm39)		probably benign	Het
Pde3a	T	C	6: 141,405,042 (GRCm39)		probably benign	Het
Pibf1	C	T	14: 99,350,409 (GRCm39)	R186C	probably damaging	Het
Pitrm1	A	G	13: 6,608,280 (GRCm39)	D335G	probably benign	Het
Pkp4	T	C	2: 59,169,109 (GRCm39)	L752P	probably damaging	Het
Plcb3	C	A	19: 6,939,281 (GRCm39)	E566*	probably null	Het
Prune2	T	C	19: 17,102,586 (GRCm39)	S2582P	probably benign	Het
Reln	A	T	5: 22,239,773 (GRCm39)	D831E	probably benign	Het
Sardh	G	A	2: 27,081,931 (GRCm39)	T865I	possibly damaging	Het
Setbp1	G	A	18: 78,901,075 (GRCm39)	T864I	probably damaging	Het
Slc9a1	T	A	4: 133,097,859 (GRCm39)	M2K	probably benign	Het
Sorbs2	A	G	8: 46,248,767 (GRCm39)	T593A	probably benign	Het
Spata31e3	A	T	13: 50,402,296 (GRCm39)	D83E	possibly damaging	Het
Svs5	A	T	2: 164,175,507 (GRCm39)	I120L	probably benign	Het
Tcl1b1	G	T	12: 105,126,074 (GRCm39)	V19F	probably damaging	Het
Urgcp	T	C	11: 5,666,004 (GRCm39)	N778S	probably benign	Het
Vnn1	A	T	10: 23,775,499 (GRCm39)	I250F	possibly damaging	Het
Xntrpc	A	G	7: 101,732,181 (GRCm39)	R365G	possibly damaging	Het
Zfp84	T	A	7: 29,470,797 (GRCm39)	M1K	probably null	Het
Zfyve26	G	A	12: 79,326,841 (GRCm39)	R761C	probably damaging	Het
Zp3r	A	G	1: 130,505,621 (GRCm39)		probably null	Het

Other mutations in Samd9l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Samd9l	APN	6	3,376,779 (GRCm39)	missense	probably damaging	0.96
IGL00550:Samd9l	APN	6	3,374,594 (GRCm39)	missense	probably benign	0.00
IGL01100:Samd9l	APN	6	3,375,863 (GRCm39)	missense	possibly damaging	0.91
IGL01321:Samd9l	APN	6	3,376,259 (GRCm39)	missense	probably benign	0.42
IGL01553:Samd9l	APN	6	3,375,566 (GRCm39)	missense	probably damaging	0.99
IGL01575:Samd9l	APN	6	3,376,734 (GRCm39)	missense	possibly damaging	0.85
IGL01896:Samd9l	APN	6	3,375,120 (GRCm39)	missense	probably benign	0.02
IGL01915:Samd9l	APN	6	3,373,864 (GRCm39)	nonsense	probably null
IGL02063:Samd9l	APN	6	3,372,992 (GRCm39)	missense	probably damaging	1.00
IGL02066:Samd9l	APN	6	3,376,575 (GRCm39)	missense	probably damaging	1.00
IGL02145:Samd9l	APN	6	3,374,105 (GRCm39)	missense	probably benign	0.13
IGL02163:Samd9l	APN	6	3,374,246 (GRCm39)	missense	possibly damaging	0.90
IGL02256:Samd9l	APN	6	3,376,197 (GRCm39)	missense	probably damaging	1.00
IGL02508:Samd9l	APN	6	3,374,798 (GRCm39)	missense	probably damaging	1.00
IGL02591:Samd9l	APN	6	3,375,760 (GRCm39)	missense	possibly damaging	0.91
IGL02968:Samd9l	APN	6	3,376,026 (GRCm39)	missense	probably damaging	1.00
IGL03058:Samd9l	APN	6	3,374,980 (GRCm39)	missense	probably damaging	0.99
IGL03068:Samd9l	APN	6	3,375,348 (GRCm39)	nonsense	probably null
IGL03160:Samd9l	APN	6	3,374,894 (GRCm39)	missense	probably damaging	1.00
IGL03372:Samd9l	APN	6	3,375,314 (GRCm39)	missense	probably damaging	1.00
IGL03385:Samd9l	APN	6	3,376,208 (GRCm39)	missense	probably damaging	0.99
boston_lager	UTSW	6	3,375,761 (GRCm39)	missense	probably benign	0.12
ipa	UTSW	6	3,376,347 (GRCm39)	missense	probably damaging	1.00
Paine	UTSW	6	3,372,716 (GRCm39)	missense	probably damaging	0.99
samad	UTSW	6	3,374,032 (GRCm39)	nonsense	probably null
IGL03054:Samd9l	UTSW	6	3,376,023 (GRCm39)	missense	probably damaging	1.00
R0111:Samd9l	UTSW	6	3,374,946 (GRCm39)	missense	possibly damaging	0.80
R0112:Samd9l	UTSW	6	3,376,031 (GRCm39)	missense	possibly damaging	0.93
R0356:Samd9l	UTSW	6	3,375,107 (GRCm39)	missense	possibly damaging	0.69
R0370:Samd9l	UTSW	6	3,377,264 (GRCm39)	start gained	probably benign
R0398:Samd9l	UTSW	6	3,374,502 (GRCm39)	missense	probably damaging	1.00
R0744:Samd9l	UTSW	6	3,372,725 (GRCm39)	missense	possibly damaging	0.92
R0833:Samd9l	UTSW	6	3,372,725 (GRCm39)	missense	possibly damaging	0.92
R0880:Samd9l	UTSW	6	3,377,064 (GRCm39)	missense	probably damaging	0.99
R1155:Samd9l	UTSW	6	3,376,939 (GRCm39)	missense	probably benign	0.01
R1268:Samd9l	UTSW	6	3,376,113 (GRCm39)	missense	possibly damaging	0.56
R1293:Samd9l	UTSW	6	3,373,947 (GRCm39)	missense	possibly damaging	0.93
R1478:Samd9l	UTSW	6	3,376,369 (GRCm39)	missense	probably benign	0.06
R1573:Samd9l	UTSW	6	3,375,426 (GRCm39)	missense	probably damaging	0.99
R1590:Samd9l	UTSW	6	3,375,761 (GRCm39)	missense	probably benign	0.12
R1611:Samd9l	UTSW	6	3,373,771 (GRCm39)	missense	probably benign	0.00
R1754:Samd9l	UTSW	6	3,373,126 (GRCm39)	missense	probably damaging	0.96
R1759:Samd9l	UTSW	6	3,373,401 (GRCm39)	missense	probably damaging	1.00
R1795:Samd9l	UTSW	6	3,375,264 (GRCm39)	nonsense	probably null
R1829:Samd9l	UTSW	6	3,375,107 (GRCm39)	missense	possibly damaging	0.69
R1935:Samd9l	UTSW	6	3,376,269 (GRCm39)	missense	probably benign	0.01
R2154:Samd9l	UTSW	6	3,372,945 (GRCm39)	missense	possibly damaging	0.91
R2228:Samd9l	UTSW	6	3,376,910 (GRCm39)	missense	probably benign	0.08
R3622:Samd9l	UTSW	6	3,374,032 (GRCm39)	nonsense	probably null
R3903:Samd9l	UTSW	6	3,376,830 (GRCm39)	nonsense	probably null
R3904:Samd9l	UTSW	6	3,376,830 (GRCm39)	nonsense	probably null
R3945:Samd9l	UTSW	6	3,377,029 (GRCm39)	missense	possibly damaging	0.71
R4091:Samd9l	UTSW	6	3,376,887 (GRCm39)	missense	probably benign	0.22
R4602:Samd9l	UTSW	6	3,373,937 (GRCm39)	frame shift	probably null
R4602:Samd9l	UTSW	6	3,373,935 (GRCm39)	missense	probably damaging	1.00
R4618:Samd9l	UTSW	6	3,376,347 (GRCm39)	missense	probably damaging	1.00
R4747:Samd9l	UTSW	6	3,375,504 (GRCm39)	nonsense	probably null
R4762:Samd9l	UTSW	6	3,375,623 (GRCm39)	missense	probably benign	0.01
R4814:Samd9l	UTSW	6	3,372,863 (GRCm39)	missense	probably damaging	0.98
R4934:Samd9l	UTSW	6	3,375,621 (GRCm39)	nonsense	probably null
R5026:Samd9l	UTSW	6	3,375,284 (GRCm39)	missense	possibly damaging	0.75
R5048:Samd9l	UTSW	6	3,374,157 (GRCm39)	missense	probably benign	0.35
R5130:Samd9l	UTSW	6	3,374,548 (GRCm39)	missense	possibly damaging	0.69
R5271:Samd9l	UTSW	6	3,376,156 (GRCm39)	missense	probably benign	0.02
R5328:Samd9l	UTSW	6	3,376,739 (GRCm39)	missense	probably damaging	0.99
R5507:Samd9l	UTSW	6	3,373,898 (GRCm39)	missense	possibly damaging	0.78
R5587:Samd9l	UTSW	6	3,373,291 (GRCm39)	missense	possibly damaging	0.84
R5846:Samd9l	UTSW	6	3,376,754 (GRCm39)	missense	probably benign
R5881:Samd9l	UTSW	6	3,372,716 (GRCm39)	missense	possibly damaging	0.70
R5889:Samd9l	UTSW	6	3,376,460 (GRCm39)	missense	probably damaging	1.00
R6131:Samd9l	UTSW	6	3,377,252 (GRCm39)	missense	probably benign	0.00
R6199:Samd9l	UTSW	6	3,376,686 (GRCm39)	missense	probably benign	0.13
R6298:Samd9l	UTSW	6	3,375,383 (GRCm39)	missense	probably damaging	1.00
R6331:Samd9l	UTSW	6	3,376,361 (GRCm39)	missense	probably damaging	1.00
R6489:Samd9l	UTSW	6	3,376,896 (GRCm39)	missense	probably benign
R6601:Samd9l	UTSW	6	3,377,229 (GRCm39)	missense	possibly damaging	0.74
R6655:Samd9l	UTSW	6	3,377,247 (GRCm39)	missense	probably benign	0.22
R6803:Samd9l	UTSW	6	3,375,446 (GRCm39)	missense	probably damaging	0.97
R6864:Samd9l	UTSW	6	3,374,750 (GRCm39)	missense	probably benign	0.14
R6905:Samd9l	UTSW	6	3,375,387 (GRCm39)	missense	probably damaging	0.99
R6919:Samd9l	UTSW	6	3,376,313 (GRCm39)	missense	possibly damaging	0.88
R7060:Samd9l	UTSW	6	3,372,716 (GRCm39)	missense	probably damaging	0.99
R7073:Samd9l	UTSW	6	3,375,856 (GRCm39)	nonsense	probably null
R7250:Samd9l	UTSW	6	3,374,201 (GRCm39)	missense	possibly damaging	0.78
R7307:Samd9l	UTSW	6	3,372,600 (GRCm39)	nonsense	probably null
R7351:Samd9l	UTSW	6	3,374,157 (GRCm39)	missense	probably benign	0.35
R7423:Samd9l	UTSW	6	3,374,408 (GRCm39)	missense	probably damaging	1.00
R7610:Samd9l	UTSW	6	3,376,754 (GRCm39)	missense	probably benign
R7667:Samd9l	UTSW	6	3,375,975 (GRCm39)	missense	possibly damaging	0.87
R7672:Samd9l	UTSW	6	3,373,646 (GRCm39)	missense	probably benign	0.16
R7680:Samd9l	UTSW	6	3,376,469 (GRCm39)	missense	probably damaging	1.00
R7680:Samd9l	UTSW	6	3,372,569 (GRCm39)	missense	probably damaging	1.00
R7814:Samd9l	UTSW	6	3,374,793 (GRCm39)	missense	possibly damaging	0.86
R7829:Samd9l	UTSW	6	3,374,749 (GRCm39)	missense	probably benign	0.00
R8000:Samd9l	UTSW	6	3,373,034 (GRCm39)	missense	probably damaging	1.00
R8098:Samd9l	UTSW	6	3,375,549 (GRCm39)	missense	probably damaging	1.00
R8698:Samd9l	UTSW	6	3,373,843 (GRCm39)	missense	probably benign	0.06
R8785:Samd9l	UTSW	6	3,377,064 (GRCm39)	missense	probably damaging	0.99
R8795:Samd9l	UTSW	6	3,374,221 (GRCm39)	nonsense	probably null
R8806:Samd9l	UTSW	6	3,376,665 (GRCm39)	missense	probably damaging	0.99
R8832:Samd9l	UTSW	6	3,374,990 (GRCm39)	missense	probably damaging	1.00
R8954:Samd9l	UTSW	6	3,374,577 (GRCm39)	missense	probably damaging	0.98
R9023:Samd9l	UTSW	6	3,373,791 (GRCm39)	missense	probably damaging	1.00
R9051:Samd9l	UTSW	6	3,373,493 (GRCm39)	missense	probably benign	0.16
R9108:Samd9l	UTSW	6	3,373,104 (GRCm39)	missense	possibly damaging	0.71
R9213:Samd9l	UTSW	6	3,376,856 (GRCm39)	missense	probably benign	0.23
R9494:Samd9l	UTSW	6	3,375,830 (GRCm39)	missense	possibly damaging	0.51
R9504:Samd9l	UTSW	6	3,372,621 (GRCm39)	missense	probably benign	0.17
R9655:Samd9l	UTSW	6	3,373,578 (GRCm39)	missense	probably benign	0.00
R9688:Samd9l	UTSW	6	3,377,087 (GRCm39)	missense	probably damaging	1.00
R9696:Samd9l	UTSW	6	3,375,078 (GRCm39)	missense	possibly damaging	0.76
R9721:Samd9l	UTSW	6	3,375,854 (GRCm39)	missense	possibly damaging	0.69
X0026:Samd9l	UTSW	6	3,375,560 (GRCm39)	missense	probably damaging	1.00
X0066:Samd9l	UTSW	6	3,374,477 (GRCm39)	missense	probably damaging	1.00
Z1176:Samd9l	UTSW	6	3,376,770 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGATCACTTCCTGCGATCAAGACC -3'
(R):5'- GAACAAAGAGCCTTTGAGGCCAAAC -3'

Sequencing Primer
(F):5'- CTGCGATCAAGACCTTTTCAG -3'
(R):5'- TACTCTGAAGGACCTGGATGC -3'

Posted On

2014-01-05