Mutagenetix > Incidental Mutation

Incidental Mutation 'R9504:Samd9l'

717725

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 #

R9504 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3372257-3399571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3372621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1547 (Y1547H)

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: Y1547H

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: Y1547H

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: 99.7%
20x: 98.9%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1b1	T	C	4: 45,802,905 (GRCm39)	Y148H	probably damaging	Het
Ankib1	A	G	5: 3,763,235 (GRCm39)	V498A	probably benign	Het
Atp6v0c	A	G	17: 24,383,493 (GRCm39)	V118A	possibly damaging	Het
Bcan	G	A	3: 87,900,748 (GRCm39)	P495L	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Ccdc178	T	C	18: 22,238,708 (GRCm39)	E303G	possibly damaging	Het
Ccdc47	T	C	11: 106,101,155 (GRCm39)	N169S	probably benign	Het
Cldn23	A	T	8: 36,293,470 (GRCm39)	V6E	probably damaging	Het
Dip2a	T	C	10: 76,132,189 (GRCm39)	T560A	probably damaging	Het
Ephb3	A	G	16: 21,036,830 (GRCm39)	S352G	possibly damaging	Het
Far2	C	A	6: 148,059,453 (GRCm39)	A256E	probably damaging	Het
Gga1	C	T	15: 78,767,528 (GRCm39)	R89C	probably damaging	Het
Hbb-bh2	A	G	7: 103,489,339 (GRCm39)	S71P	probably damaging	Het
Lama1	T	A	17: 68,128,661 (GRCm39)	V3006D		Het
Lypd9	A	G	11: 58,337,215 (GRCm39)	V86A	probably benign	Het
Mrm1	G	A	11: 84,710,132 (GRCm39)	R23W	probably damaging	Het
Nod2	A	T	8: 89,391,906 (GRCm39)	I738F	probably damaging	Het
Or1p1b	C	T	11: 74,131,094 (GRCm39)	R235C	probably benign	Het
Or4c35	G	T	2: 89,808,497 (GRCm39)	C125F	probably damaging	Het
Or8b4	A	G	9: 37,830,163 (GRCm39)	D70G	probably damaging	Het
Pkd1l1	A	G	11: 8,815,631 (GRCm39)	W1877R		Het
Psmd2	C	T	16: 20,478,160 (GRCm39)	A515V	probably benign	Het
Sgsh	T	C	11: 119,237,375 (GRCm39)	N413S	probably benign	Het
Slmap	G	A	14: 26,136,133 (GRCm39)	P819L	probably damaging	Het
Steap4	A	G	5: 8,030,538 (GRCm39)	N465D	probably benign	Het
Sult3a2	T	C	10: 33,642,436 (GRCm39)	N289S	probably benign	Het
Tbx2	T	A	11: 85,724,038 (GRCm39)	S36T	possibly damaging	Het
Tcstv1a	G	A	13: 120,355,267 (GRCm39)	Q122*	probably null	Het
Tnk2	T	C	16: 32,498,961 (GRCm39)	V758A	possibly damaging	Het
Trrap	C	T	5: 144,742,904 (GRCm39)	T1425M	probably damaging	Het
Ttc9b	A	G	7: 27,354,394 (GRCm39)	K160R	probably damaging	Het
Vinac1	C	T	2: 128,881,189 (GRCm39)	A246T		Het
Zfp959	T	A	17: 56,204,793 (GRCm39)	Y277N	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
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
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'- GCACTCTATGGGCTAGAAAGAG -3'
(R):5'- TCTACCTGGGGCAGAAGAAG -3'

Sequencing Primer
(F):5'- CTCTATGGGCTAGAAAGAGTAAGTAC -3'
(R):5'- CTGAAATCGAGCGCTACTTCAGTG -3'

Posted On

2022-07-18