Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03385:Samd9l'

420833

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Samd9l

Ensembl Gene

ENSMUSG00000047735

Gene Name

sterile alpha motif domain containing 9-like

Synonyms

ESTM25

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03385

Quality Score

Status

Chromosome

Chromosomal Location

3372257-3399572 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3376208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 351 (N351I)

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: N351I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: N351I

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

Validation Efficiency

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs9	A	G	9: 22,643,748 (GRCm38)	T444A	probably benign	Het
Cdh7	A	G	1: 110,065,786 (GRCm38)	T324A	possibly damaging	Het
Col14a1	C	A	15: 55,410,204 (GRCm38)	T723K	unknown	Het
Col14a1	G	A	15: 55,471,708 (GRCm38)	G1513S	unknown	Het
Col1a2	C	A	6: 4,539,612 (GRCm38)	N1293K	unknown	Het
Ctdp1	T	C	18: 80,449,918 (GRCm38)	D454G	probably damaging	Het
Fut2	C	T	7: 45,650,769 (GRCm38)	G193E	possibly damaging	Het
G3bp2	A	G	5: 92,068,395 (GRCm38)	V94A	probably damaging	Het
Gm973	A	G	1: 59,582,470 (GRCm38)	S590G	probably benign	Het
Gon4l	A	T	3: 88,907,543 (GRCm38)	T1940S	probably benign	Het
Itk	G	A	11: 46,331,861 (GRCm38)	Q594*	probably null	Het
Kcnc2	G	A	10: 112,455,786 (GRCm38)	C293Y	probably damaging	Het
Krit1	A	G	5: 3,807,452 (GRCm38)	I86V	possibly damaging	Het
Lyst	T	A	13: 13,656,980 (GRCm38)	L1663*	probably null	Het
Moxd2	T	C	6: 40,879,018 (GRCm38)	T546A	probably damaging	Het
Myo7b	G	T	18: 31,989,577 (GRCm38)	Q717K	probably benign	Het
Olfr1368	A	G	13: 21,142,487 (GRCm38)	V190A	probably benign	Het
Olfr435	T	C	6: 43,201,980 (GRCm38)	V112A	probably benign	Het
Ostm1	A	C	10: 42,698,144 (GRCm38)	N123H	probably damaging	Het
Pcdh10	A	C	3: 45,381,512 (GRCm38)	S754R	possibly damaging	Het
Pomt2	A	T	12: 87,116,556 (GRCm38)	L613Q	probably damaging	Het
Serpinb9	T	C	13: 33,007,996 (GRCm38)		probably benign	Het
Slc12a4	T	A	8: 105,950,864 (GRCm38)		probably benign	Het
Smgc	T	A	15: 91,841,978 (GRCm38)	H42Q	possibly damaging	Het
Tor1a	A	G	2: 30,963,727 (GRCm38)	V197A	possibly damaging	Het
Ttc4	A	G	4: 106,668,200 (GRCm38)	S246P	probably benign	Het
Tti1	G	A	2: 157,993,025 (GRCm38)	A1005V	possibly damaging	Het
Ugt3a2	A	T	15: 9,338,738 (GRCm38)	I63F	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
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
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

Posted On

2016-08-02