Mutagenetix > Incidental Mutation

Incidental Mutation 'R9213:Samd9l'

698991

Institutional Source

Beutler Lab

Gene Symbol

Samd9l

Ensembl Gene

ENSMUSG00000047735

Gene Name

sterile alpha motif domain containing 9-like

Synonyms

ESTM25

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9213 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3372257-3399572 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3376856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 135 (E135G)

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: E135G

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: E135G

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: 99.8%
20x: 99.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	A	2: 111,190,354 (GRCm38)	R136S	unknown	Het
Adamts6	T	A	13: 104,444,932 (GRCm38)	C852S	probably damaging	Het
Arf1	A	G	11: 59,213,360 (GRCm38)	V43A	probably damaging	Het
Arhgef26	T	A	3: 62,432,579 (GRCm38)	M674K	probably benign	Het
Asb1	A	C	1: 91,554,809 (GRCm38)	K314N	probably damaging	Het
Aste1	T	C	9: 105,397,095 (GRCm38)	F178S	probably damaging	Het
Avl9	T	C	6: 56,743,456 (GRCm38)	F493S	probably damaging	Het
BC024139	T	C	15: 76,125,222 (GRCm38)	Y220C	probably benign	Het
Ccdc60	T	C	5: 116,190,126 (GRCm38)	E93G	probably damaging	Het
Cep112	A	G	11: 108,486,953 (GRCm38)	H295R	probably benign	Het
Chd3	T	C	11: 69,364,802 (GRCm38)	K87E	possibly damaging	Het
Chordc1	G	T	9: 18,312,493 (GRCm38)		probably null	Het
Ciita	A	T	16: 10,501,878 (GRCm38)	D55V	probably damaging	Het
Cklf	T	C	8: 104,261,493 (GRCm38)	V86A	probably damaging	Het
Clock	T	A	5: 76,245,529 (GRCm38)	N189I	possibly damaging	Het
Dnah14	T	C	1: 181,616,640 (GRCm38)		probably null	Het
Dpep3	C	G	8: 105,973,613 (GRCm38)	C487S	probably benign	Het
Dtwd2	A	G	18: 49,723,732 (GRCm38)	F163L	probably benign	Het
Eln	C	T	5: 134,706,602 (GRCm38)	V776M	unknown	Het
Fanci	T	A	7: 79,406,223 (GRCm38)	M201K	possibly damaging	Het
Frmd4a	A	G	2: 4,603,561 (GRCm38)	T747A	probably damaging	Het
Galnt9	T	A	5: 110,619,242 (GRCm38)	C526*	probably null	Het
Garnl3	T	C	2: 33,005,068 (GRCm38)	E663G	probably damaging	Het
Gdpd5	T	C	7: 99,451,738 (GRCm38)	S247P	probably damaging	Het
Gm4846	C	T	1: 166,494,573 (GRCm38)	D142N	probably damaging	Het
Kbtbd2	T	A	6: 56,779,932 (GRCm38)	E273V	probably damaging	Het
Klk1b11	A	G	7: 43,999,004 (GRCm38)	E145G	possibly damaging	Het
Mmp1a	G	T	9: 7,475,363 (GRCm38)	V378F	possibly damaging	Het
Mon2	G	T	10: 123,036,111 (GRCm38)	S336*	probably null	Het
Mrgprh	T	A	17: 12,877,030 (GRCm38)	N52K	probably damaging	Het
Myo9a	T	C	9: 59,865,639 (GRCm38)	F985L	probably benign	Het
Nek3	T	C	8: 22,148,661 (GRCm38)	N207S	probably benign	Het
Nkpd1	A	G	7: 19,524,084 (GRCm38)	D596G	probably damaging	Het
Oc90	C	A	15: 65,889,708 (GRCm38)	E154*	probably null	Het
Olfr147	C	A	9: 38,403,751 (GRCm38)	Y292*	probably null	Het
Olfr888	T	A	9: 38,109,130 (GRCm38)	M143K	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm38)		probably benign	Het
Pkhd1l1	A	G	15: 44,495,478 (GRCm38)	Y361C	probably damaging	Het
Polr2h	T	C	16: 20,720,535 (GRCm38)	Y90H	possibly damaging	Het
Ppp1r26	A	G	2: 28,453,637 (GRCm38)	N1093S	probably benign	Het
Prex1	G	T	2: 166,575,749 (GRCm38)	R1313S	probably damaging	Het
Ptprh	A	T	7: 4,580,912 (GRCm38)	V227E	probably damaging	Het
Pycr2	A	G	1: 180,905,908 (GRCm38)	D58G	probably benign	Het
Rad54b	G	T	4: 11,609,321 (GRCm38)	E591*	probably null	Het
Rptor	T	C	11: 119,603,939 (GRCm38)	S44P	probably benign	Het
Safb2	T	A	17: 56,575,602 (GRCm38)	T344S	probably benign	Het
Sec23a	A	T	12: 59,001,922 (GRCm38)	I167N	probably damaging	Het
Shoc2	C	T	19: 54,027,800 (GRCm38)	T415I	probably benign	Het
Sobp	T	C	10: 43,022,378 (GRCm38)	I404V	probably benign	Het
Ssbp4	G	T	8: 70,599,745 (GRCm38)	L147I	probably benign	Het
Sspo	G	A	6: 48,463,935 (GRCm38)	R1777H	possibly damaging	Het
Syt14	A	G	1: 192,930,506 (GRCm38)	V379A	probably damaging	Het
Tat	T	G	8: 109,996,188 (GRCm38)	I294S	probably damaging	Het
Tcf19	A	G	17: 35,515,002 (GRCm38)	V86A	probably damaging	Het
Tfap2a	T	A	13: 40,717,399 (GRCm38)	I338F	possibly damaging	Het
Tmco6	C	A	18: 36,739,331 (GRCm38)	N365K	probably damaging	Het
Tmub2	G	A	11: 102,287,649 (GRCm38)	R164K		Het
Togaram1	A	G	12: 65,019,132 (GRCm38)	I1637V	possibly damaging	Het
Wdr49	A	C	3: 75,298,112 (GRCm38)	S666A	probably benign	Het
Ybx1	T	A	4: 119,281,597 (GRCm38)	Y236F	possibly damaging	Het
Zfhx3	T	A	8: 108,950,124 (GRCm38)	I2602N	probably benign	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
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
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'- CTGCTGCAAATCGGAAAGTCTC -3'
(R):5'- TAGTTCCCCTGAAAGTCACAATC -3'

Sequencing Primer
(F):5'- CTGCAAATCGGAAAGTCTCATTGC -3'
(R):5'- TGAAAGTCACAATCAAGATTCCAGAG -3'

Posted On

2022-02-07