Mutagenetix > Incidental Mutation

Incidental Mutation 'R8795:Samd9l'

671186

Institutional Source

Beutler Lab

Gene Symbol

Samd9l

Ensembl Gene

ENSMUSG00000047735

Gene Name

sterile alpha motif domain containing 9-like

Synonyms

ESTM25

MMRRC Submission

068636-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8795 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3372257-3399571 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 3374221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1013 (Y1013*)

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: Y1013*

SMART Domains

Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: Y1013*

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (72/74)

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
Aars2	A	T	17: 45,818,598 (GRCm39)	M128L	probably damaging	Het
Abcc12	A	G	8: 87,258,213 (GRCm39)	S768P	possibly damaging	Het
Adamts8	A	T	9: 30,854,484 (GRCm39)	M118L	probably benign	Het
Adgrl4	A	G	3: 151,216,416 (GRCm39)	N533S	probably benign	Het
Agk	T	G	6: 40,363,854 (GRCm39)	I278R	possibly damaging	Het
Atr	T	A	9: 95,749,584 (GRCm39)	W466R	probably damaging	Het
Cacna1h	C	T	17: 25,612,538 (GRCm39)	V387I	probably damaging	Het
Cand2	T	G	6: 115,763,889 (GRCm39)	D270E	probably benign	Het
Ccdc107	C	T	4: 43,495,514 (GRCm39)	T139M	probably damaging	Het
Cenpl	A	G	1: 160,910,584 (GRCm39)	E177G	probably benign	Het
Clint1	C	A	11: 45,775,178 (GRCm39)	Q56K	probably damaging	Het
Col9a1	A	G	1: 24,233,812 (GRCm39)	R249G	unknown	Het
Cpne5	C	T	17: 29,423,662 (GRCm39)		probably benign	Het
Ddx27	A	G	2: 166,859,730 (GRCm39)	D54G	probably benign	Het
Dync2h1	C	T	9: 7,137,087 (GRCm39)	E1468K	probably benign	Het
E130308A19Rik	A	T	4: 59,737,676 (GRCm39)	N429I	possibly damaging	Het
Endov	G	T	11: 119,390,380 (GRCm39)	G86C	possibly damaging	Het
Ercc5	A	T	1: 44,203,089 (GRCm39)	Y242F	possibly damaging	Het
Gabrr1	T	A	4: 33,161,756 (GRCm39)	V360E	probably damaging	Het
Gcn1	T	C	5: 115,752,454 (GRCm39)	I2153T	probably benign	Het
Gje1	T	C	10: 14,593,870 (GRCm39)	N8S	probably benign	Het
Greb1l	A	G	18: 10,553,739 (GRCm39)	H1580R	probably damaging	Het
Grin1	C	G	2: 25,187,468 (GRCm39)	S614T	probably damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ifitm2	A	T	7: 140,535,661 (GRCm39)	H56Q	probably damaging	Het
Ifrd1	G	A	12: 40,263,076 (GRCm39)	T218I	possibly damaging	Het
Igkv1-99	G	T	6: 68,519,370 (GRCm39)	G109V		Het
Impg2	A	G	16: 56,080,611 (GRCm39)	E805G	probably benign	Het
Itgb6	T	A	2: 60,483,629 (GRCm39)	N260Y	probably damaging	Het
Maneal	G	T	4: 124,750,483 (GRCm39)	Y424*	probably null	Het
Map4k2	T	G	19: 6,401,640 (GRCm39)	C677W	probably damaging	Het
Med6	T	C	12: 81,638,034 (GRCm39)	H59R	probably benign	Het
Mms22l	T	A	4: 24,536,245 (GRCm39)	D571E	probably benign	Het
Mroh8	A	G	2: 157,067,493 (GRCm39)	F622S	probably damaging	Het
Mrpl44	A	T	1: 79,753,974 (GRCm39)	Q42L	probably damaging	Het
Myh8	G	T	11: 67,174,203 (GRCm39)		probably benign	Het
Ndufb2	T	C	6: 39,569,586 (GRCm39)	V13A	probably benign	Het
Nf1	T	A	11: 79,316,442 (GRCm39)	L499Q	probably damaging	Het
Opa1	T	C	16: 29,448,450 (GRCm39)	C874R	probably damaging	Het
Or1i2	T	C	10: 78,447,698 (GRCm39)	Y259C	probably damaging	Het
Or4c99	T	G	2: 88,329,855 (GRCm39)	V142G	probably damaging	Het
Or4k37	T	A	2: 111,158,881 (GRCm39)	L39*	probably null	Het
Or6c6	T	C	10: 129,187,194 (GRCm39)	I254T	probably damaging	Het
Pld3	T	A	7: 27,235,286 (GRCm39)	D314V	possibly damaging	Het
Pou6f1	A	C	15: 100,485,686 (GRCm39)	C114W	possibly damaging	Het
Prl2c1	A	C	13: 28,033,389 (GRCm39)	Q2P	possibly damaging	Het
Prl2c1	G	T	13: 28,033,390 (GRCm39)	Q2H	probably benign	Het
Pzp	C	A	6: 128,471,701 (GRCm39)	K908N	probably damaging	Het
Rab6b	G	A	9: 103,039,825 (GRCm39)	G125D	probably damaging	Het
Rhbdd2	C	T	5: 135,663,985 (GRCm39)	T69I	probably benign	Het
Slc13a4	T	A	6: 35,260,230 (GRCm39)	T217S	probably benign	Het
Slc66a3	A	G	12: 17,043,481 (GRCm39)	W150R	probably damaging	Het
Smarcad1	T	C	6: 65,049,033 (GRCm39)	L253S	probably benign	Het
Snrpa	C	A	7: 26,891,034 (GRCm39)	V146L	possibly damaging	Het
Spata31f1e	A	G	4: 42,792,992 (GRCm39)	V380A	probably benign	Het
Srrt	A	T	5: 137,298,238 (GRCm39)	D311E	probably benign	Het
Stk32b	A	T	5: 37,806,483 (GRCm39)	F20L	probably damaging	Het
Sult2a7	T	C	7: 14,224,014 (GRCm39)	T136A	probably benign	Het
Sv2a	G	A	3: 96,094,396 (GRCm39)	V244I	probably benign	Het
Tesk1	T	A	4: 43,446,070 (GRCm39)		probably null	Het
Tmem260	A	G	14: 48,689,370 (GRCm39)	H63R	probably damaging	Het
Ugt1a6b	A	G	1: 88,034,794 (GRCm39)	E44G	probably benign	Het
Unc79	A	T	12: 103,074,513 (GRCm39)	I1363F	probably damaging	Het
Usp15	T	A	10: 122,988,953 (GRCm39)	N255Y	probably benign	Het
Usp35	A	G	7: 96,961,167 (GRCm39)	V753A	possibly damaging	Het
Usp35	T	C	7: 96,961,270 (GRCm39)	N719D	probably benign	Het
Vmn2r104	T	A	17: 20,262,988 (GRCm39)	I158L	probably benign	Het
Vmn2r69	A	T	7: 85,064,883 (GRCm39)	M1K	probably null	Het
Zan	C	T	5: 137,396,522 (GRCm39)	E4345K	unknown	Het
Zc3h7a	A	T	16: 10,965,147 (GRCm39)	M662K	possibly damaging	Het
Zfp512	G	A	5: 31,634,134 (GRCm39)	V438M	probably damaging	Het
Zfy1	T	C	Y: 738,945 (GRCm39)	D87G	unknown	Het
Zmym4	A	T	4: 126,799,819 (GRCm39)	V653E	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	3,376,469 (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
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'- TTGTGGGAATCGATCACTTCCTG -3'
(R):5'- GGAATCACTTACACCAAGAAATATGGG -3'

Sequencing Primer
(F):5'- GAATCGATCACTTCCTGCGATCAAG -3'
(R):5'- CCTGAAACTGTAGAAAAGAACATGG -3'

Posted On

2021-04-30