Mutagenetix > Incidental Mutation

Incidental Mutation 'R7680:Samd9l'

592694

Institutional Source

Beutler Lab

Gene Symbol

Samd9l

Ensembl Gene

ENSMUSG00000047735

Gene Name

sterile alpha motif domain containing 9-like

Synonyms

ESTM25

MMRRC Submission

045746-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3372257-3399571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3376469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 264 (I264T)

Ref Sequence

ENSEMBL: ENSMUSP00000112688 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000120087
AA Change: I264T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: I264T

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: 99.6%
20x: 98.7%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,657,958 (GRCm39)	D104G	possibly damaging	Het
Ahi1	G	T	10: 20,883,667 (GRCm39)	C844F	possibly damaging	Het
Bspry	T	C	4: 62,414,828 (GRCm39)	*474Q	probably null	Het
Car9	T	A	4: 43,507,250 (GRCm39)	D65E	probably damaging	Het
Ccdc110	T	A	8: 46,394,688 (GRCm39)	M193K	possibly damaging	Het
Ccdc166	A	G	15: 75,853,056 (GRCm39)	S304P	possibly damaging	Het
Cdcp1	T	C	9: 123,012,584 (GRCm39)	Q321R	probably damaging	Het
Cic	T	C	7: 24,991,856 (GRCm39)	V2255A	probably damaging	Het
Cmc2	A	T	8: 117,620,849 (GRCm39)	M44K	probably damaging	Het
Crls1	A	G	2: 132,704,258 (GRCm39)	T223A	probably damaging	Het
Ctnna3	A	T	10: 64,323,329 (GRCm39)	H488L	probably benign	Het
Cyp2r1	A	T	7: 114,152,054 (GRCm39)	I301N	probably damaging	Het
Dkk3	A	T	7: 111,718,570 (GRCm39)	L272Q	probably damaging	Het
Dnah14	A	G	1: 181,513,365 (GRCm39)	N1906S	probably benign	Het
Gm13271	T	C	4: 88,673,367 (GRCm39)	V88A	probably benign	Het
Gphn	C	A	12: 78,459,148 (GRCm39)	L79I	probably benign	Het
Gpr15	A	T	16: 58,538,328 (GRCm39)	W254R	probably damaging	Het
H2-M2	T	C	17: 37,793,916 (GRCm39)	R103G	possibly damaging	Het
Hcn4	T	C	9: 58,767,954 (GRCm39)	S1172P	probably benign	Het
Htr1a	A	G	13: 105,581,539 (GRCm39)	S260G	probably benign	Het
Iftap	T	C	2: 101,440,901 (GRCm39)	E34G	probably damaging	Het
Kif21b	G	T	1: 136,075,607 (GRCm39)		probably null	Het
Lamp1	T	C	8: 13,217,812 (GRCm39)	Y131H	probably benign	Het
Lrrc47	A	C	4: 154,100,558 (GRCm39)	N378T	probably benign	Het
Manea	A	T	4: 26,340,649 (GRCm39)	H104Q	probably damaging	Het
Map4k3	A	G	17: 80,889,305 (GRCm39)	I888T	probably benign	Het
Mark3	T	C	12: 111,613,207 (GRCm39)	M557T	probably benign	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myh6	C	A	14: 55,186,190 (GRCm39)	C1413F	possibly damaging	Het
Myorg	C	A	4: 41,497,978 (GRCm39)	D551Y	probably damaging	Het
Ncr1	T	A	7: 4,341,123 (GRCm39)	M38K	possibly damaging	Het
Nid2	A	G	14: 19,829,715 (GRCm39)	T669A	probably damaging	Het
Or6e1	T	A	14: 54,519,837 (GRCm39)	I172F	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekha7	A	G	7: 115,763,511 (GRCm39)	Y364H	probably benign	Het
Plxnb1	T	A	9: 108,929,571 (GRCm39)	Y142*	probably null	Het
Ptprn	T	C	1: 75,224,537 (GRCm39)	I940V	probably benign	Het
Rnf213	T	C	11: 119,370,382 (GRCm39)	V4728A		Het
Slc16a7	T	C	10: 125,066,805 (GRCm39)	D278G	probably benign	Het
Slc35f2	T	A	9: 53,715,396 (GRCm39)	V214E	probably damaging	Het
Slc7a5	A	C	8: 122,634,006 (GRCm39)	S114A	probably damaging	Het
St6galnac3	A	G	3: 152,911,047 (GRCm39)	S305P	probably damaging	Het
Stat1	G	A	1: 52,183,368 (GRCm39)	R378Q	probably damaging	Het
Tnfrsf9	T	G	4: 151,014,395 (GRCm39)	C31W	probably damaging	Het
Tnk1	T	C	11: 69,747,571 (GRCm39)	E61G	possibly damaging	Het
Tnks1bp1	T	A	2: 84,889,585 (GRCm39)	D637E	probably benign	Het
Ttc17	C	T	2: 94,196,889 (GRCm39)	G486D	probably benign	Het
Vmn1r30	T	A	6: 58,412,284 (GRCm39)	R183*	probably null	Het
Vmn2r78	A	G	7: 86,604,149 (GRCm39)	T776A	probably damaging	Het
Wrap73	A	G	4: 154,241,079 (GRCm39)	E444G	probably benign	Het
Zc3h13	C	T	14: 75,567,955 (GRCm39)	R1083C	probably damaging	Het
Zfp189	A	G	4: 49,521,547 (GRCm39)		probably benign	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
R1110:Samd9l	UTSW	6	3,374,267 (GRCm39)	missense	probably benign	0.44
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	3,372,569 (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'- CCTGTGCTACTTTGCATCATAATG -3'
(R):5'- AGACAGGGCCACTCAATCTC -3'

Sequencing Primer
(F):5'- TGCAAAAGGACTTCCACG -3'
(R):5'- GGGCCACTCAATCTCATTGAC -3'

Posted On

2019-11-12