Mutagenetix > Incidental Mutation

Incidental Mutation 'R9615:Samd4b'

724509

Institutional Source

Beutler Lab

Gene Symbol

Samd4b

Ensembl Gene

ENSMUSG00000109336

Gene Name

sterile alpha motif domain containing 4B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.524) question?

Stock #

R9615 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28098947-28135616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28106714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 349 (I349K)

Ref Sequence

ENSEMBL: ENSMUSP00000040486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040531] [ENSMUST00000207766] [ENSMUST00000208126] [ENSMUST00000208199]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040531
AA Change: I349K

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

SMART Domains

Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: I349K

Domain	Start	End	E-Value	Type
low complexity region	81	90	N/A	INTRINSIC
low complexity region	174	190	N/A	INTRINSIC
low complexity region	200	211	N/A	INTRINSIC
low complexity region	278	290	N/A	INTRINSIC
SAM	296	359	1.02e-9	SMART
low complexity region	406	420	N/A	INTRINSIC
low complexity region	433	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207766

Predicted Effect

probably benign
Transcript: ENSMUST00000208126

Predicted Effect

probably damaging
Transcript: ENSMUST00000208199
AA Change: I349K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,814 (GRCm39)	Q124R	probably damaging	Het
Abca16	T	A	7: 120,126,404 (GRCm39)	F1188I	probably benign	Het
Acat3	G	A	17: 13,147,502 (GRCm39)	Q172*	probably null	Het
Aicda	T	A	6: 122,538,113 (GRCm39)	C90*	probably null	Het
Arhgap39	C	A	15: 76,621,438 (GRCm39)	V388L	probably benign	Het
B020011L13Rik	A	T	1: 117,729,462 (GRCm39)	H323L	probably damaging	Het
Bsn	C	T	9: 107,984,430 (GRCm39)	R436Q		Het
C3	A	T	17: 57,518,669 (GRCm39)	L1238Q	probably damaging	Het
Cert1	C	T	13: 96,767,334 (GRCm39)	H495Y	possibly damaging	Het
Ces1g	A	G	8: 94,061,807 (GRCm39)	V33A	probably damaging	Het
Clstn1	A	G	4: 149,722,757 (GRCm39)	D475G	probably damaging	Het
Cmtm2a	A	G	8: 105,019,286 (GRCm39)	V101A	probably damaging	Het
Cnnm4	A	G	1: 36,511,893 (GRCm39)	M374V	probably damaging	Het
Commd9	T	C	2: 101,727,436 (GRCm39)	S77P	possibly damaging	Het
Cox7a2l	A	G	17: 83,821,701 (GRCm39)	Y2H	possibly damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Cubn	G	A	2: 13,325,991 (GRCm39)	H2725Y	possibly damaging	Het
Cyp2c39	T	C	19: 39,501,617 (GRCm39)	F57L	probably benign	Het
Dgkh	A	T	14: 78,813,370 (GRCm39)	V1036D	possibly damaging	Het
Dip2c	G	A	13: 9,625,191 (GRCm39)	V562I	probably benign	Het
Fat3	T	C	9: 16,289,343 (GRCm39)	Q60R	probably benign	Het
Gm1527	A	G	3: 28,969,475 (GRCm39)	D275G	probably damaging	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Grik4	T	A	9: 42,502,765 (GRCm39)	K453*	probably null	Het
Hdlbp	T	C	1: 93,358,014 (GRCm39)	T296A	probably benign	Het
Hrh4	C	A	18: 13,154,944 (GRCm39)	T161K	probably benign	Het
Ift74	A	T	4: 94,550,822 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,292,192 (GRCm39)	Y71N	probably benign	Het
Klhl42	T	C	6: 147,009,373 (GRCm39)	L404P	probably damaging	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lipe	T	A	7: 25,097,326 (GRCm39)	K206*	probably null	Het
Lipo3	T	C	19: 33,754,047 (GRCm39)	I363V	probably benign	Het
Mrgpra6	T	A	7: 46,835,675 (GRCm39)	I249F	probably benign	Het
Myo15a	A	T	11: 60,374,320 (GRCm39)	N125I		Het
Nbr1	T	A	11: 101,465,978 (GRCm39)	I753N	probably benign	Het
Ndor1	T	C	2: 25,138,434 (GRCm39)	D451G	probably benign	Het
Nlrp5	C	T	7: 23,107,561 (GRCm39)	T78I	probably benign	Het
Or10j3b	A	T	1: 173,044,034 (GRCm39)	E272V	possibly damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Prom1	A	G	5: 44,164,399 (GRCm39)	F728S	probably damaging	Het
Ptgs2	T	A	1: 149,980,802 (GRCm39)	F456Y	probably damaging	Het
Rtl1	G	A	12: 109,556,835 (GRCm39)	A1668V	possibly damaging	Het
Runx2	A	T	17: 44,969,560 (GRCm39)	D310E	probably benign	Het
Scn10a	A	G	9: 119,487,504 (GRCm39)	M610T	possibly damaging	Het
Sec61b	A	G	4: 47,483,056 (GRCm39)	I105V	probably benign	Het
Semp2l2b	T	C	10: 21,943,611 (GRCm39)	E123G	probably benign	Het
Slc35f4	A	G	14: 49,556,306 (GRCm39)	V149A	probably benign	Het
Smndc1	T	A	19: 53,368,951 (GRCm39)	M221L	probably damaging	Het
Ssh2	A	G	11: 77,316,203 (GRCm39)	N275D	possibly damaging	Het
Tas2r124	C	T	6: 132,732,492 (GRCm39)	T267I	probably benign	Het
Thra	G	A	11: 98,651,715 (GRCm39)	R79H	probably damaging	Het
Tie1	T	C	4: 118,347,032 (GRCm39)		probably benign	Het
Umodl1	A	C	17: 31,217,152 (GRCm39)	Q1128P	possibly damaging	Het
Vps35	G	A	8: 86,010,633 (GRCm39)	R237C	probably benign	Het
Zfp78	T	A	7: 6,382,074 (GRCm39)	C343S	probably damaging	Het
Zfp85	A	G	13: 67,897,326 (GRCm39)	Y249H	probably damaging	Het

Other mutations in Samd4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Samd4b	APN	7	28,101,302 (GRCm39)	missense	probably damaging	1.00
IGL00979:Samd4b	APN	7	28,113,638 (GRCm39)	missense	probably damaging	1.00
IGL01336:Samd4b	APN	7	28,113,388 (GRCm39)	missense	probably benign	0.00
IGL01432:Samd4b	APN	7	28,113,491 (GRCm39)	missense	possibly damaging	0.60
IGL01895:Samd4b	APN	7	28,101,334 (GRCm39)	critical splice acceptor site	probably null
IGL02827:Samd4b	APN	7	28,113,546 (GRCm39)	missense	probably damaging	1.00
IGL03077:Samd4b	APN	7	28,105,868 (GRCm39)	missense	probably damaging	0.99
IGL03055:Samd4b	UTSW	7	28,104,971 (GRCm39)	missense	possibly damaging	0.89
R0367:Samd4b	UTSW	7	28,122,873 (GRCm39)	missense	probably damaging	1.00
R0390:Samd4b	UTSW	7	28,103,402 (GRCm39)	missense	probably benign	0.13
R0440:Samd4b	UTSW	7	28,107,585 (GRCm39)	missense	probably benign	0.45
R0488:Samd4b	UTSW	7	28,113,662 (GRCm39)	missense	probably damaging	1.00
R0798:Samd4b	UTSW	7	28,101,048 (GRCm39)	splice site	probably benign
R1233:Samd4b	UTSW	7	28,113,435 (GRCm39)	missense	probably damaging	0.98
R1234:Samd4b	UTSW	7	28,113,435 (GRCm39)	missense	probably damaging	0.98
R1481:Samd4b	UTSW	7	28,113,435 (GRCm39)	missense	probably damaging	0.98
R1643:Samd4b	UTSW	7	28,123,041 (GRCm39)	missense	probably damaging	1.00
R1675:Samd4b	UTSW	7	28,113,435 (GRCm39)	missense	probably damaging	0.98
R1768:Samd4b	UTSW	7	28,113,317 (GRCm39)	missense	probably benign	0.36
R1801:Samd4b	UTSW	7	28,106,756 (GRCm39)	splice site	probably null
R2831:Samd4b	UTSW	7	28,103,338 (GRCm39)	missense	probably damaging	0.99
R4505:Samd4b	UTSW	7	28,106,925 (GRCm39)	missense	probably benign	0.15
R4507:Samd4b	UTSW	7	28,106,925 (GRCm39)	missense	probably benign	0.15
R4731:Samd4b	UTSW	7	28,106,088 (GRCm39)	missense	probably benign	0.00
R5811:Samd4b	UTSW	7	28,107,445 (GRCm39)	missense	probably damaging	1.00
R6063:Samd4b	UTSW	7	28,123,056 (GRCm39)	start codon destroyed	possibly damaging	0.71
R6114:Samd4b	UTSW	7	28,222,217 (GRCm39)	splice site	probably null
R6356:Samd4b	UTSW	7	28,101,018 (GRCm39)	missense	probably damaging	1.00
R6467:Samd4b	UTSW	7	28,101,285 (GRCm39)	missense	probably damaging	1.00
R7055:Samd4b	UTSW	7	28,103,458 (GRCm39)	missense	probably benign	0.01
R7191:Samd4b	UTSW	7	28,113,686 (GRCm39)	missense	probably benign	0.18
R7371:Samd4b	UTSW	7	28,122,926 (GRCm39)	missense	probably benign	0.33
R7445:Samd4b	UTSW	7	28,105,881 (GRCm39)	missense	probably benign	0.00
R7543:Samd4b	UTSW	7	28,113,711 (GRCm39)	missense	probably benign	0.02
R7663:Samd4b	UTSW	7	28,122,925 (GRCm39)	nonsense	probably null
R7746:Samd4b	UTSW	7	28,103,328 (GRCm39)	missense	probably damaging	1.00
R7991:Samd4b	UTSW	7	28,103,458 (GRCm39)	missense	probably benign	0.01
R8235:Samd4b	UTSW	7	28,106,031 (GRCm39)	missense	probably benign
R9423:Samd4b	UTSW	7	28,113,633 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCAGCAGCAGCAAGTGAG -3'
(R):5'- CCTAGAGTCGCAGGTGAATCTG -3'

Sequencing Primer
(F):5'- GCAAGTGAGCCCTTTGAATAC -3'
(R):5'- TCGCAGGTGAATCTGAGAGAGC -3'

Posted On

2022-09-12