Mutagenetix > Incidental Mutation

Incidental Mutation 'R9423:Samd4b'

712434

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 #

R9423 (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 G at 28113633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 111 (Y111H)

Ref Sequence

ENSEMBL: ENSMUSP00000040486 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040531
AA Change: Y111H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: Y111H

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
AA Change: Y111H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000208199
AA Change: Y111H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (23/23)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,520 (GRCm39)	S959P	probably damaging	Het
Abca13	T	C	11: 9,240,395 (GRCm39)	S753P	probably damaging	Het
Abcb10	A	G	8: 124,688,819 (GRCm39)	S486P		Het
Adamts19	G	T	18: 59,023,427 (GRCm39)	R274L	possibly damaging	Het
Ahcyl1	C	T	3: 107,578,476 (GRCm39)	E254K	probably damaging	Het
Ccdc177	T	G	12: 80,804,162 (GRCm39)	D704A	unknown	Het
Cd200r3	T	C	16: 44,771,895 (GRCm39)	V53A	probably benign	Het
Cdc42bpg	T	C	19: 6,363,329 (GRCm39)	L429P	probably damaging	Het
Cdh23	T	C	10: 60,148,387 (GRCm39)	D2660G	probably damaging	Het
Cfap61	G	T	2: 145,985,155 (GRCm39)	A1000S	probably damaging	Het
Col28a1	T	C	6: 7,999,601 (GRCm39)	T1039A	probably benign	Het
Ctsd	A	G	7: 141,939,212 (GRCm39)	L71P	probably damaging	Het
Dab2ip	C	T	2: 35,599,966 (GRCm39)	T251M	probably damaging	Het
Dcaf8	T	A	1: 172,007,524 (GRCm39)	I331N	probably damaging	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dgka	C	T	10: 128,557,055 (GRCm39)	C640Y	probably damaging	Het
Entrep3	T	A	3: 89,092,007 (GRCm39)	L155Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gpr141	T	C	13: 19,935,995 (GRCm39)	N260S	probably benign	Het
Htr2a	T	A	14: 74,943,516 (GRCm39)	F365L	probably damaging	Het
Kdm5b	T	C	1: 134,515,705 (GRCm39)	Y110H	possibly damaging	Het
Ktn1	A	G	14: 47,912,318 (GRCm39)	T362A	probably benign	Het
Ltbp1	G	A	17: 75,597,112 (GRCm39)	S581N	probably benign	Het
Nr1h4	C	A	10: 89,309,688 (GRCm39)	R347L	possibly damaging	Het
Or4f60	A	T	2: 111,902,808 (GRCm39)	M40K	possibly damaging	Het
Or8g26	G	T	9: 39,095,838 (GRCm39)	M118I	probably damaging	Het
Parg	T	G	14: 31,939,662 (GRCm39)	F563V	probably damaging	Het
Pfkfb3	T	C	2: 11,487,276 (GRCm39)	Y378C	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pitpnm2	A	C	5: 124,271,469 (GRCm39)	L368R	probably benign	Het
Pkd1l3	A	G	8: 110,350,312 (GRCm39)	T386A	possibly damaging	Het
Plch2	C	A	4: 155,071,049 (GRCm39)	C1110F		Het
Poc5	T	C	13: 96,547,114 (GRCm39)	V459A	probably damaging	Het
Pou4f3	T	C	18: 42,528,959 (GRCm39)	S301P	probably damaging	Het
Rpf2	T	C	10: 40,101,336 (GRCm39)	D233G	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Serpinb10	C	T	1: 107,466,179 (GRCm39)	T55M	probably benign	Het
Serpinb1a	C	T	13: 33,026,910 (GRCm39)	C344Y	probably benign	Het
Shprh	T	C	10: 11,081,007 (GRCm39)	V1524A	probably damaging	Het
Sirt1	T	C	10: 63,158,025 (GRCm39)	H463R	probably damaging	Het
Skor2	T	A	18: 76,948,300 (GRCm39)	L674Q	probably damaging	Het
Slc3a2	T	A	19: 8,690,189 (GRCm39)	K201M	possibly damaging	Het
Spata31h1	C	A	10: 82,123,459 (GRCm39)	V3184L	possibly damaging	Het
Stam	C	A	2: 14,146,564 (GRCm39)	Q421K	possibly damaging	Het
Steap4	G	A	5: 8,026,720 (GRCm39)	V228M	probably damaging	Het
Tacr3	A	G	3: 134,638,043 (GRCm39)	Y400C	probably benign	Het
Tecpr1	A	G	5: 144,155,396 (GRCm39)	V54A	probably damaging	Het
Tgm3	A	T	2: 129,880,527 (GRCm39)	E444D	probably benign	Het
Trim30a	A	T	7: 104,078,410 (GRCm39)	L222Q	probably damaging	Het
Trmt1l	T	C	1: 151,325,817 (GRCm39)	Y421H	possibly damaging	Het
Usp24	T	C	4: 106,288,867 (GRCm39)	F2500L	probably damaging	Het
Vmn2r54	T	A	7: 12,349,441 (GRCm39)	S714C	probably damaging	Het
Washc5	A	G	15: 59,227,735 (GRCm39)	I409T	probably benign	Het
Zfta	T	C	19: 7,397,624 (GRCm39)	L57P	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
R9615:Samd4b	UTSW	7	28,106,714 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2022-05-16