Mutagenetix > Incidental Mutation

Incidental Mutation 'R5026:Samd9l'

391342

Institutional Source

Beutler Lab

Gene Symbol

Samd9l

Ensembl Gene

ENSMUSG00000047735

Gene Name

sterile alpha motif domain containing 9-like

Synonyms

ESTM25

MMRRC Submission

042617-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5026 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3372257-3399572 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3375284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 659 (D659V)

Ref Sequence

ENSEMBL: ENSMUSP00000112688 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120087
AA Change: D659V

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: D659V

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

0.1239

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 90.7%

Validation Efficiency

96% (88/92)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,317,224 (GRCm38)	N608S	probably benign	Het
Actg1	T	C	11: 120,346,958 (GRCm38)	N7S	probably damaging	Het
Adamtsl3	T	A	7: 82,576,054 (GRCm38)	L357Q	probably benign	Het
Ahnak	A	T	19: 9,010,631 (GRCm38)	Q3093L	possibly damaging	Het
Ankrd16	T	A	2: 11,789,881 (GRCm38)	V359E	probably benign	Het
Ankrd40	T	C	11: 94,339,724 (GRCm38)		probably benign	Het
Ano10	G	A	9: 122,272,559 (GRCm38)	Q49*	probably null	Het
Aoah	A	T	13: 20,914,959 (GRCm38)	D236V	probably damaging	Het
Bin1	T	C	18: 32,419,930 (GRCm38)		probably null	Het
Braf	T	C	6: 39,688,287 (GRCm38)	D49G	probably benign	Het
Brsk1	A	T	7: 4,704,266 (GRCm38)	R273W	probably damaging	Het
C2cd3	T	A	7: 100,459,842 (GRCm38)	M2259K	possibly damaging	Het
Cabp1	T	C	5: 115,175,472 (GRCm38)	N43D	possibly damaging	Het
Ccar2	T	A	14: 70,142,502 (GRCm38)	Q412L	possibly damaging	Het
Cd4	T	C	6: 124,866,620 (GRCm38)	T443A	possibly damaging	Het
Cdh23	T	A	10: 60,304,848 (GRCm38)	I3206F	possibly damaging	Het
Ceacam9	A	T	7: 16,725,197 (GRCm38)		probably null	Het
Chid1	T	C	7: 141,513,836 (GRCm38)	D289G	probably damaging	Het
Chmp6	T	A	11: 119,918,643 (GRCm38)	L196Q	probably damaging	Het
Cog8	A	G	8: 107,049,125 (GRCm38)	S536P	probably benign	Het
Dmxl2	A	T	9: 54,416,676 (GRCm38)	S1141R	probably damaging	Het
Dnah7a	T	G	1: 53,662,498 (GRCm38)	Y166S	probably damaging	Het
Dnah7b	G	T	1: 46,187,363 (GRCm38)	W1318L	probably damaging	Het
Ecd	A	G	14: 20,337,030 (GRCm38)	F212S	probably damaging	Het
Entpd6	A	T	2: 150,763,644 (GRCm38)	S265C	probably damaging	Het
Epb41l2	A	G	10: 25,484,308 (GRCm38)	T523A	possibly damaging	Het
Focad	T	C	4: 88,344,582 (GRCm38)	S939P	unknown	Het
Gjb3	A	T	4: 127,326,487 (GRCm38)	V84D	probably damaging	Het
Gm572	A	T	4: 148,654,844 (GRCm38)	E43V	possibly damaging	Het
Gm6185	T	A	1: 161,224,608 (GRCm38)		noncoding transcript	Het
Gria1	T	A	11: 57,310,696 (GRCm38)	C787S	probably damaging	Het
Grpel2	A	G	18: 61,715,953 (GRCm38)	L162P	probably damaging	Het
Herc1	A	G	9: 66,486,126 (GRCm38)	T4096A	probably benign	Het
Hook3	A	T	8: 26,110,757 (GRCm38)	M41K	probably damaging	Het
Ifit1bl1	T	C	19: 34,593,893 (GRCm38)	Y388C	probably damaging	Het
Ighv3-4	A	G	12: 114,253,762 (GRCm38)	Y70H	probably benign	Het
Itm2c	T	C	1: 85,906,492 (GRCm38)	L176P	probably damaging	Het
Lmtk3	G	A	7: 45,794,412 (GRCm38)		probably benign	Het
Macf1	G	A	4: 123,439,494 (GRCm38)	T2376I	possibly damaging	Het
Map1a	T	G	2: 121,307,538 (GRCm38)	S2660A	possibly damaging	Het
Mmrn2	A	G	14: 34,399,201 (GRCm38)	H676R	probably benign	Het
Nbeal1	A	T	1: 60,237,179 (GRCm38)	K693M	probably damaging	Het
Ndufa13	T	A	8: 69,895,270 (GRCm38)	R49*	probably null	Het
Neb	T	A	2: 52,204,880 (GRCm38)	T1115S	possibly damaging	Het
Nvl	C	T	1: 181,105,155 (GRCm38)	R699H	probably damaging	Het
Olfr1490	A	G	19: 13,654,932 (GRCm38)	I163V	probably benign	Het
Olfr74	A	T	2: 87,974,020 (GRCm38)	I215N	probably damaging	Het
Olfr920	A	G	9: 38,755,745 (GRCm38)	D19G	probably benign	Het
Olfr926	A	T	9: 38,877,899 (GRCm38)	H241L	possibly damaging	Het
Piezo1	G	T	8: 122,486,818 (GRCm38)	D1779E	probably benign	Het
Prl8a9	A	G	13: 27,561,577 (GRCm38)	S77P	probably damaging	Het
Prune2	A	T	19: 17,199,142 (GRCm38)	I2904F	probably damaging	Het
Retreg1	T	A	15: 25,970,128 (GRCm38)	S151T	probably damaging	Het
Rnf213	A	G	11: 119,436,764 (GRCm38)	D1859G	probably damaging	Het
Rnf39	T	C	17: 36,945,534 (GRCm38)	F173L	probably benign	Het
Rspry1	T	A	8: 94,650,303 (GRCm38)	N371K	probably damaging	Het
Sez6	T	A	11: 77,968,989 (GRCm38)	F378Y	probably damaging	Het
Slc22a19	G	A	19: 7,674,372 (GRCm38)	T490M	probably benign	Het
Slit2	A	T	5: 48,256,805 (GRCm38)	N917I	probably damaging	Het
Smg1	T	A	7: 118,193,545 (GRCm38)		probably benign	Het
Tes	T	C	6: 17,096,340 (GRCm38)	V24A	probably benign	Het
Tial1	C	T	7: 128,448,396 (GRCm38)	E82K	probably damaging	Het
Tmem94	G	A	11: 115,793,104 (GRCm38)	C750Y	probably damaging	Het
Tmppe	T	A	9: 114,405,819 (GRCm38)	N395K	possibly damaging	Het
Tnn	T	C	1: 160,146,137 (GRCm38)	H220R	probably benign	Het
Trappc10	T	C	10: 78,204,288 (GRCm38)	T610A	possibly damaging	Het
Trmt1l	T	A	1: 151,440,876 (GRCm38)	M196K	probably damaging	Het
Trpv4	T	C	5: 114,622,654 (GRCm38)	*872W	probably null	Het
Ttn	T	C	2: 76,749,009 (GRCm38)	T23847A	probably benign	Het
Ube4b	T	A	4: 149,360,565 (GRCm38)	L440F	probably damaging	Het
Ugt1a5	C	G	1: 88,166,241 (GRCm38)	R64G	probably benign	Het
Unc13c	T	A	9: 73,930,903 (GRCm38)	T889S	possibly damaging	Het
Vmn1r215	C	T	13: 23,076,279 (GRCm38)	T163I	probably benign	Het
Vmn2r16	T	A	5: 109,360,856 (GRCm38)	Y483*	probably null	Het
Wdr47	T	A	3: 108,618,522 (GRCm38)	C120*	probably null	Het
Zc3h6	G	A	2: 129,017,309 (GRCm38)	V1087I	probably benign	Het
Zfp423	T	C	8: 87,780,674 (GRCm38)	H889R	probably damaging	Het
Zfp825	G	T	13: 74,481,077 (GRCm38)	H107N	probably benign	Het
Zfp945	T	C	17: 22,850,885 (GRCm38)	H680R	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
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
R7307:Samd9l	UTSW	6	3,372,600 (GRCm38)	nonsense	probably null
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'- TGACTTTGACAAACACTGGTTTAGG -3'
(R):5'- TCTGGCAAAACATAGCATTTCCAC -3'

Sequencing Primer
(F):5'- ACTGGTTTAGGAGAGTCTGCACAC -3'
(R):5'- AGGAGATTTTTGCCCTCC -3'

Posted On

2016-06-06