Mutagenetix > Incidental Mutation

Incidental Mutation 'R8832:Samd9l'

673905

Institutional Source

Beutler Lab

Gene Symbol

Samd9l

Ensembl Gene

ENSMUSG00000047735

Gene Name

sterile alpha motif domain containing 9-like

Synonyms

ESTM25

MMRRC Submission

068660-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3372257-3399572 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3374990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 757 (V757D)

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: V757D

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

SMART Domains

Protein: ENSMUSP00000112688
Gene: ENSMUSG00000047735
AA Change: V757D

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (81/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,171,211 (GRCm38)	D12G	probably damaging	Het
2610507B11Rik	A	G	11: 78,267,238 (GRCm38)	K409E	probably benign	Het
9330159F19Rik	A	T	10: 29,224,345 (GRCm38)	E238V	probably damaging	Het
Adh6b	T	C	3: 138,349,702 (GRCm38)	V71A	probably benign	Het
Agmat	G	A	4: 141,747,009 (GRCm38)	R67H	probably benign	Het
AI182371	T	C	2: 35,095,897 (GRCm38)	D49G	unknown	Het
Ak7	A	G	12: 105,742,339 (GRCm38)	N351S	possibly damaging	Het
Aldh3b1	G	T	19: 3,914,025 (GRCm38)	R426S	probably damaging	Het
Aldh4a1	A	G	4: 139,644,155 (GRCm38)	D460G	probably benign	Het
Aox4	A	T	1: 58,255,490 (GRCm38)	M953L	probably benign	Het
Arhgap32	C	T	9: 32,260,819 (GRCm38)	P1632S	possibly damaging	Het
Armh1	A	G	4: 117,237,670 (GRCm38)	F58L	probably damaging	Het
Baz1b	C	T	5: 135,217,376 (GRCm38)	R560W	possibly damaging	Het
Bbs10	C	T	10: 111,300,405 (GRCm38)	Q460*	probably null	Het
BC034090	A	C	1: 155,226,288 (GRCm38)	S77A	probably damaging	Het
Brca2	A	G	5: 150,542,146 (GRCm38)	K1792E	possibly damaging	Het
Cadps2	A	T	6: 23,587,537 (GRCm38)	L318Q	possibly damaging	Het
Catsperg2	A	G	7: 29,697,844 (GRCm38)	V1078A	probably benign	Het
Ccno	A	G	13: 112,989,705 (GRCm38)	N236S	probably benign	Het
Cobll1	A	T	2: 65,099,258 (GRCm38)	S575T	probably damaging	Het
Col6a4	A	G	9: 106,072,154 (GRCm38)	Y761H	probably benign	Het
Cyp2j9	G	T	4: 96,585,884 (GRCm38)	H106Q	probably benign	Het
D5Ertd577e	G	T	5: 95,483,080 (GRCm38)	C272F	possibly damaging	Het
Dennd2c	T	A	3: 103,152,404 (GRCm38)		probably null	Het
Drd5	G	A	5: 38,319,735 (GRCm38)	V24M	probably benign	Het
Dthd1	T	C	5: 62,814,265 (GRCm38)	S144P	probably benign	Het
Fam126b	A	T	1: 58,548,673 (GRCm38)	I127N	possibly damaging	Het
Fcna	C	A	2: 25,626,133 (GRCm38)	R124L	possibly damaging	Het
Fmnl2	A	G	2: 53,054,572 (GRCm38)	S188G		Het
Ggt1	A	T	10: 75,574,339 (GRCm38)	H35L	possibly damaging	Het
Gphn	A	T	12: 78,412,400 (GRCm38)		silent	Het
Hic1	G	A	11: 75,166,902 (GRCm38)	A387V	possibly damaging	Het
Igf1r	T	A	7: 68,226,021 (GRCm38)	F1244I	probably damaging	Het
Kcnk7	T	C	19: 5,704,708 (GRCm38)	V78A	probably damaging	Het
Kit	A	G	5: 75,639,131 (GRCm38)	N508D	probably benign	Het
Klk1b22	A	T	7: 44,114,853 (GRCm38)	E68D	probably benign	Het
Klra4	C	T	6: 130,044,056 (GRCm38)	D259N	probably benign	Het
Krtap2-4	A	T	11: 99,614,420 (GRCm38)	C122S	unknown	Het
Map3k1	T	G	13: 111,752,481 (GRCm38)	H1314P	possibly damaging	Het
Mast2	C	T	4: 116,311,678 (GRCm38)		probably null	Het
Mfsd2a	A	G	4: 122,949,309 (GRCm38)	V393A	probably benign	Het
Myh7b	T	A	2: 155,633,262 (GRCm38)	V1858E	probably benign	Het
Myo1c	G	A	11: 75,670,246 (GRCm38)	V793I	probably benign	Het
Myt1l	T	A	12: 29,920,352 (GRCm38)	N1145K	unknown	Het
Nckap1l	T	A	15: 103,478,815 (GRCm38)	S706T	probably benign	Het
Nos2	A	G	11: 78,955,464 (GRCm38)		probably null	Het
Odf2l	C	T	3: 145,128,059 (GRCm38)	S160L	probably benign	Het
Olfr1116	T	A	2: 87,269,399 (GRCm38)	M206K	probably benign	Het
Olfr1179	A	G	2: 88,402,793 (GRCm38)	I47T	probably damaging	Het
Olfr332	T	C	11: 58,490,237 (GRCm38)	I173V	possibly damaging	Het
Olfr688	T	C	7: 105,288,228 (GRCm38)	L45P	possibly damaging	Het
Olfr968	T	C	9: 39,772,590 (GRCm38)	D70G	probably damaging	Het
Pclo	T	C	5: 14,788,450 (GRCm38)	W1424R		Het
Pde8a	A	G	7: 81,306,750 (GRCm38)	N299S	probably benign	Het
Pi4kb	C	T	3: 94,993,033 (GRCm38)	T326M	probably damaging	Het
Pip4k2c	A	T	10: 127,201,168 (GRCm38)	H177Q	probably damaging	Het
Pld1	T	A	3: 28,123,697 (GRCm38)	W686R		Het
Ppp1r3b	A	T	8: 35,384,265 (GRCm38)	D86V	probably damaging	Het
Ppp1r3g	C	T	13: 35,969,160 (GRCm38)	R188*	probably null	Het
Ptbp1	A	G	10: 79,863,189 (GRCm38)	E527G	probably damaging	Het
Rasef	T	C	4: 73,780,321 (GRCm38)		probably benign	Het
Rce1	A	T	19: 4,625,504 (GRCm38)	C34S	unknown	Het
Rnf144a	T	C	12: 26,320,949 (GRCm38)		probably benign	Het
Rpl7	C	T	1: 16,103,261 (GRCm38)	R88H	possibly damaging	Het
Rubcnl	A	T	14: 75,031,919 (GRCm38)	T6S		Het
Sec22c	A	G	9: 121,685,572 (GRCm38)	V221A	probably benign	Het
Slc16a6	A	G	11: 109,455,106 (GRCm38)	Y444H	probably benign	Het
Slc6a15	A	T	10: 103,389,318 (GRCm38)	Y89F	probably damaging	Het
Smg1	A	G	7: 118,139,783 (GRCm38)	V3466A	probably benign	Het
Sobp	G	A	10: 43,160,828 (GRCm38)	T38I	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069 (GRCm38)		probably null	Het
Srsf5	T	A	12: 80,949,504 (GRCm38)	F151I	probably damaging	Het
Taf2	A	C	15: 55,064,605 (GRCm38)	L134R	possibly damaging	Het
Tbc1d1	A	G	5: 64,284,677 (GRCm38)		probably benign	Het
Thap1	C	T	8: 26,158,233 (GRCm38)		probably benign	Het
Tmc5	A	T	7: 118,623,109 (GRCm38)	M11L	probably benign	Het
Tnfaip8	ACACACTCTCTCTCTC	AC	18: 50,046,841 (GRCm38)		probably benign	Het
Tomm7	T	C	5: 23,844,049 (GRCm38)	K9E	possibly damaging	Het
Trem3	T	C	17: 48,249,837 (GRCm38)	V112A	probably benign	Het
Vmn1r178	G	A	7: 23,893,839 (GRCm38)	C104Y	probably damaging	Het
Zdhhc20	A	T	14: 57,843,264 (GRCm38)	S263T	possibly damaging	Het
Zdhhc20	A	G	14: 57,865,632 (GRCm38)	S87P	probably benign	Het
Zfp423	C	A	8: 87,781,199 (GRCm38)	C839F	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCTTTTCTGCTATAAAGGCATTG -3'
(R):5'- ATCGAGGAGGCAGAGTATCC -3'

Sequencing Primer
(F):5'- GCAGAATATAGGCGTTCTC -3'
(R):5'- AGGCAGAGTATCCTGGTGGAATTTC -3'

Posted On

2021-07-15