Mutagenetix > Incidental Mutation

Incidental Mutation 'R7663:Samd4b'

591706

Institutional Source

Beutler Lab

Gene Symbol

Samd4b

Ensembl Gene

ENSMUSG00000109336

Gene Name

sterile alpha motif domain containing 4B

Synonyms

MMRRC Submission

045738-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.524) question?

Stock #

R7663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28098947-28135616 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 28122925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 44 (C44*)

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 null
Transcript: ENSMUST00000040531
AA Change: C44*

SMART Domains

Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: C44*

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 null
Transcript: ENSMUST00000207766
AA Change: C44*

Predicted Effect

probably null
Transcript: ENSMUST00000208199
AA Change: C44*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,887 (GRCm39)	T359A	probably damaging	Het
Abcd4	A	C	12: 84,652,903 (GRCm39)	V433G	probably damaging	Het
Acot5	C	A	12: 84,116,355 (GRCm39)	R39S	probably damaging	Het
Actl9	T	C	17: 33,652,443 (GRCm39)	S168P	probably damaging	Het
Adam15	A	G	3: 89,253,113 (GRCm39)	L237P	probably damaging	Het
Ahctf1	T	C	1: 179,617,879 (GRCm39)	Q289R	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asah1	C	T	8: 41,794,664 (GRCm39)	R385Q	probably damaging	Het
Bicc1	T	C	10: 70,782,420 (GRCm39)	T607A	probably benign	Het
Ccdc88a	T	C	11: 29,448,614 (GRCm39)		probably null	Het
Cdhr4	A	T	9: 107,875,971 (GRCm39)	R750*	probably null	Het
Cep290	T	A	10: 100,390,398 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,442,797 (GRCm39)	D749V	probably benign	Het
Clcn1	C	T	6: 42,286,997 (GRCm39)	P685S	possibly damaging	Het
Clk1	A	G	1: 58,460,319 (GRCm39)	S104P	probably damaging	Het
Commd10	T	C	18: 47,219,323 (GRCm39)	V172A	probably benign	Het
Cyp2c69	A	T	19: 39,865,953 (GRCm39)	C213*	probably null	Het
Dnah14	A	T	1: 181,579,720 (GRCm39)		probably null	Het
Dock2	C	T	11: 34,611,854 (GRCm39)	G170R	probably damaging	Het
Fam186a	T	G	15: 99,842,950 (GRCm39)	H1098P	probably benign	Het
Flt1	T	C	5: 147,591,930 (GRCm39)	T511A	probably benign	Het
Fmo1	A	C	1: 162,663,866 (GRCm39)	I221S	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Ginm1	A	T	10: 7,651,126 (GRCm39)	S93R	possibly damaging	Het
Gm3629	A	C	14: 17,875,685 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gys2	C	T	6: 142,405,211 (GRCm39)	R192H	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hectd4	C	A	5: 121,462,094 (GRCm39)	A987E	probably benign	Het
Herc2	G	A	7: 55,786,433 (GRCm39)	V1593I	probably benign	Het
Ighv14-3	T	C	12: 114,023,554 (GRCm39)	T88A	probably benign	Het
Jag2	T	C	12: 112,877,286 (GRCm39)	D695G	probably damaging	Het
Kazn	A	T	4: 141,832,209 (GRCm39)	D663E		Het
Krt79	T	C	15: 101,840,278 (GRCm39)	D306G	probably damaging	Het
Lama1	T	A	17: 68,087,875 (GRCm39)	C1498S		Het
Ldb1	T	C	19: 46,023,963 (GRCm39)	Y141C	probably damaging	Het
Lmnb2	T	A	10: 80,740,573 (GRCm39)	E336V	probably damaging	Het
Lrp1b	T	A	2: 42,543,047 (GRCm39)		probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mycbp2	T	A	14: 103,429,045 (GRCm39)	Y2377F	probably damaging	Het
Neb	T	A	2: 52,120,059 (GRCm39)	Y721F		Het
Ntf3	A	G	6: 126,078,778 (GRCm39)	S243P	probably damaging	Het
Or4c103	G	C	2: 88,513,696 (GRCm39)	P127A	probably damaging	Het
Or52s1	T	C	7: 102,861,652 (GRCm39)	M195T	possibly damaging	Het
Or5b121	G	T	19: 13,507,809 (GRCm39)	M301I	probably damaging	Het
Pdk1	G	A	2: 71,705,742 (GRCm39)		probably null	Het
Pdzd2	A	G	15: 12,373,289 (GRCm39)	V2282A	probably damaging	Het
Piwil1	T	C	5: 128,824,497 (GRCm39)	F517L	probably benign	Het
Plch2	T	A	4: 155,075,619 (GRCm39)	T738S	probably damaging	Het
Plekhm3	G	A	1: 64,922,367 (GRCm39)	R603W	probably damaging	Het
Pltp	A	T	2: 164,698,926 (GRCm39)		probably null	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Psmb3	G	T	11: 97,603,318 (GRCm39)	R177L	probably damaging	Het
Ralgapa2	A	G	2: 146,260,335 (GRCm39)	V764A	probably benign	Het
Rel	T	C	11: 23,692,713 (GRCm39)	D440G	probably benign	Het
Rimoc1	T	C	15: 4,018,165 (GRCm39)	Y170C	probably damaging	Het
Rims2	T	A	15: 39,370,422 (GRCm39)	V952E	probably damaging	Het
Slamf8	C	A	1: 172,415,605 (GRCm39)	V78F	possibly damaging	Het
Slc35a1	A	T	4: 34,675,493 (GRCm39)	N111K	possibly damaging	Het
Slc7a5	A	T	8: 122,614,274 (GRCm39)	Y264*	probably null	Het
Srsf2	T	C	11: 116,743,120 (GRCm39)	S134G	unknown	Het
Stag1	T	A	9: 100,620,191 (GRCm39)	M98K	probably damaging	Het
Trib1	T	C	15: 59,523,562 (GRCm39)	S199P	probably damaging	Het
Txnip	T	C	3: 96,467,153 (GRCm39)	S276P	possibly damaging	Het
Vmn1r194	C	T	13: 22,428,911 (GRCm39)	T176I	not run	Het
Vmn1r222	A	G	13: 23,416,601 (GRCm39)	L204P	possibly damaging	Het
Vmn2r63	T	A	7: 42,576,466 (GRCm39)	H449L	probably benign	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vmn2r87	T	A	10: 130,308,054 (GRCm39)	H728L	probably damaging	Het
Zfp69	G	A	4: 120,792,323 (GRCm39)	A151V	probably benign	Het
Zfp738	A	G	13: 67,831,520 (GRCm39)		probably null	Het
Zfp974	T	C	7: 27,611,110 (GRCm39)	E205G	possibly 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
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
R9615:Samd4b	UTSW	7	28,106,714 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACAGAACATGTTTCTCAGC -3'
(R):5'- TGATGTAAGCAGGCTCCCTC -3'

Sequencing Primer
(F):5'- AGAACATGTTTCTCAGCTCCGATG -3'
(R):5'- CAGAGCCGAGACCATGTGAC -3'

Posted On

2019-11-12