Mutagenetix > Incidental Mutation

Incidental Mutation 'R4511:Samd4'

470141

Institutional Source

Beutler Lab

Gene Symbol

Samd4

Ensembl Gene

ENSMUSG00000021838

Gene Name

sterile alpha motif domain containing 4

Synonyms

Smaug, 1700111L17Rik, 1700024G08Rik, 4933436G17Rik, sunk

MMRRC Submission

041586-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.784) question?

Stock #

R4511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47120414-47343274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47315042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 114 (V114D)

Ref Sequence

ENSEMBL: ENSMUSP00000115569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022386] [ENSMUST00000100672] [ENSMUST00000125113] [ENSMUST00000125688] [ENSMUST00000137543] [ENSMUST00000228404]

AlphaFold

Q8CBY1

Predicted Effect

probably benign
Transcript: ENSMUST00000022386
AA Change: V523D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022386
Gene: ENSMUSG00000021838
AA Change: V523D

Domain	Start	End	E-Value	Type
low complexity region	82	95	N/A	INTRINSIC
low complexity region	292	305	N/A	INTRINSIC
SAM	320	383	1.4e-7	SMART
low complexity region	445	463	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100672
AA Change: V435D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000098237
Gene: ENSMUSG00000021838
AA Change: V435D

Domain	Start	End	E-Value	Type
low complexity region	82	95	N/A	INTRINSIC
SAM	232	295	2.75e-6	SMART
low complexity region	357	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125113
AA Change: V422D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122833
Gene: ENSMUSG00000021838
AA Change: V422D

Domain	Start	End	E-Value	Type
low complexity region	191	204	N/A	INTRINSIC
SAM	219	282	1.4e-7	SMART
low complexity region	344	362	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125688
AA Change: V114D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115569
Gene: ENSMUSG00000021838
AA Change: V114D

Domain	Start	End	E-Value	Type
low complexity region	36	54	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137543
AA Change: V435D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114621
Gene: ENSMUSG00000021838
AA Change: V435D

Domain	Start	End	E-Value	Type
low complexity region	82	95	N/A	INTRINSIC
SAM	232	295	2.75e-6	SMART
low complexity region	357	375	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000227848
AA Change: V8D

Predicted Effect

probably benign
Transcript: ENSMUST00000228404
AA Change: V334D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit leaness, myopathy and altered glucose metabolism. Mice homozygous for a spontaneous mutation exhibit kyphosis, abnormal gait, and decreased cortical bone thickness. [provided by MGI curators]

Allele List at MGI

ll alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,819 (GRCm39)	D397E	probably benign	Het
Abcc10	A	G	17: 46,618,136 (GRCm39)	F1005L	probably damaging	Het
Ackr4	T	C	9: 103,975,930 (GRCm39)	E339G	probably benign	Het
Adam39	G	T	8: 41,279,328 (GRCm39)	C573F	probably damaging	Het
Anks1b	A	G	10: 90,346,652 (GRCm39)	T651A	probably benign	Het
Aoc1	C	A	6: 48,884,740 (GRCm39)	H594Q	probably damaging	Het
Atp4a	G	T	7: 30,423,678 (GRCm39)	E928*	probably null	Het
Atp5pf	T	C	16: 84,624,862 (GRCm39)	D104G	probably benign	Het
Atp8b5	A	G	4: 43,320,629 (GRCm39)	T206A	probably damaging	Het
Atrn	G	A	2: 130,777,497 (GRCm39)	W182*	probably null	Het
Bltp2	T	C	11: 78,168,154 (GRCm39)	S1530P	possibly damaging	Het
Cacna1e	G	A	1: 154,437,579 (GRCm39)	T257I	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Crebrf	A	G	17: 26,961,938 (GRCm39)	Y345C	probably benign	Het
Cyp26b1	G	A	6: 84,551,473 (GRCm39)	R248W	probably damaging	Het
Dclk3	C	A	9: 111,297,060 (GRCm39)	H201Q	probably benign	Het
Ddx17	A	T	15: 79,422,793 (GRCm39)	V315E	probably damaging	Het
Dhrs11	T	C	11: 84,716,342 (GRCm39)	*51W	probably null	Het
Fgfr4	C	A	13: 55,309,328 (GRCm39)	P455Q	possibly damaging	Het
Gabbr1	A	G	17: 37,380,103 (GRCm39)	K697E	probably damaging	Het
Gcnt1	G	A	19: 17,307,641 (GRCm39)	T28I	probably benign	Het
Gm12185	T	A	11: 48,799,305 (GRCm39)	H396L	possibly damaging	Het
Gm21976	A	G	13: 98,441,839 (GRCm39)	R123G	probably benign	Het
Hecw1	A	C	13: 14,531,776 (GRCm39)	V166G	probably damaging	Het
Hpx	A	G	7: 105,241,295 (GRCm39)	V372A	possibly damaging	Het
Igkv2-109	A	G	6: 68,279,962 (GRCm39)	Y61C	probably damaging	Het
Igsf1	A	G	X: 48,875,050 (GRCm39)	F789S	probably damaging	Het
Il4ra	A	G	7: 125,175,280 (GRCm39)	D496G	possibly damaging	Het
Ilf3	A	G	9: 21,310,511 (GRCm39)	T547A	possibly damaging	Het
Insrr	C	A	3: 87,715,978 (GRCm39)	P558T	possibly damaging	Het
Ints9	A	G	14: 65,266,381 (GRCm39)	D411G	possibly damaging	Het
Irak3	T	A	10: 119,981,813 (GRCm39)	H393L	probably damaging	Het
Isx	G	A	8: 75,600,298 (GRCm39)	M10I	probably benign	Het
Itga11	A	G	9: 62,668,870 (GRCm39)	D709G	probably damaging	Het
Kcng2	G	T	18: 80,338,930 (GRCm39)	R453S	probably benign	Het
Kif5b	A	G	18: 6,214,011 (GRCm39)	V664A	probably benign	Het
Lalba	A	G	15: 98,380,422 (GRCm39)	L44P	probably benign	Het
Ldlrad1	T	G	4: 107,066,715 (GRCm39)	F17V	probably benign	Het
Lnx1	C	T	5: 74,780,853 (GRCm39)	D382N	probably damaging	Het
Lrp1	T	C	10: 127,429,717 (GRCm39)	Y451C	probably damaging	Het
Lrp2	A	T	2: 69,310,406 (GRCm39)	N2722K	possibly damaging	Het
Mctp1	G	A	13: 76,973,391 (GRCm39)	V431I	probably benign	Het
Mmrn2	T	C	14: 34,125,016 (GRCm39)	F866L	possibly damaging	Het
Mylk2	A	G	2: 152,759,330 (GRCm39)	E367G	probably damaging	Het
Nfatc1	A	G	18: 80,678,794 (GRCm39)	S865P	probably damaging	Het
Nol6	G	C	4: 41,123,526 (GRCm39)	T74R	probably damaging	Het
Notch2	T	C	3: 98,053,637 (GRCm39)	M2100T	probably benign	Het
Parp1	A	G	1: 180,418,841 (GRCm39)	K667R	possibly damaging	Het
Phlda3	A	G	1: 135,694,400 (GRCm39)	T72A	probably damaging	Het
Polg	T	C	7: 79,105,270 (GRCm39)	Q758R	probably benign	Het
Polq	G	A	16: 36,868,925 (GRCm39)	R765H	probably damaging	Het
Pramel19	A	T	4: 101,798,757 (GRCm39)	M243L	probably benign	Het
Prkd1	T	C	12: 50,439,762 (GRCm39)	D355G	possibly damaging	Het
Prpf8	T	C	11: 75,382,652 (GRCm39)	Y398H	probably damaging	Het
Ripk1	T	C	13: 34,210,731 (GRCm39)	Y309H	probably damaging	Het
Rngtt	A	T	4: 33,339,032 (GRCm39)	Q279L	possibly damaging	Het
Rusf1	A	T	7: 127,875,312 (GRCm39)	F319Y	probably damaging	Het
Sec23ip	G	A	7: 128,380,900 (GRCm39)	E956K	probably damaging	Het
Slc4a1ap	A	T	5: 31,684,747 (GRCm39)	T128S	probably benign	Het
Slc5a11	A	T	7: 122,834,858 (GRCm39)	I6F	probably benign	Het
Slc6a19	A	C	13: 73,832,094 (GRCm39)	L494R	probably damaging	Het
Slc6a21	A	G	7: 44,936,713 (GRCm39)	D189G	probably damaging	Het
Slc7a1	G	T	5: 148,277,372 (GRCm39)	A381D	probably damaging	Het
Smc4	T	A	3: 68,923,980 (GRCm39)		probably null	Het
Stk19	T	C	17: 35,051,504 (GRCm39)	E17G	probably damaging	Het
Tekt5	A	C	16: 10,175,877 (GRCm39)	V556G	probably benign	Het
Tenm4	T	C	7: 96,544,070 (GRCm39)	F2029L	probably benign	Het
Thnsl1	T	C	2: 21,217,236 (GRCm39)	V330A	probably damaging	Het
Tnfrsf21	A	G	17: 43,375,910 (GRCm39)	D432G	probably damaging	Het
Tnip1	T	A	11: 54,817,616 (GRCm39)	S244C	probably benign	Het
Tnrc6c	A	T	11: 117,633,784 (GRCm39)	N1294I	possibly damaging	Het
Trpm3	A	G	19: 22,965,381 (GRCm39)	I1625M	probably benign	Het
Ttn	A	T	2: 76,575,773 (GRCm39)	V25040E	probably damaging	Het
Vwa5a	A	G	9: 38,633,853 (GRCm39)	N19D	possibly damaging	Het
Washc2	A	T	6: 116,197,517 (GRCm39)	D250V	probably damaging	Het
Xpo1	A	G	11: 23,237,401 (GRCm39)	T755A	possibly damaging	Het
Zfp462	C	T	4: 55,008,934 (GRCm39)	T300I	possibly damaging	Het
Zfp937	A	C	2: 150,080,431 (GRCm39)	T154P	probably damaging	Het
Zzef1	A	G	11: 72,778,996 (GRCm39)	D1819G	probably benign	Het

Other mutations in Samd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Samd4	APN	14	47,290,355 (GRCm39)	missense	probably damaging	1.00
IGL01413:Samd4	APN	14	47,254,249 (GRCm39)	missense	probably benign	0.01
supermodel	UTSW	14	47,253,794 (GRCm39)	missense	probably damaging	1.00
B6584:Samd4	UTSW	14	47,253,794 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Samd4	UTSW	14	47,254,135 (GRCm39)	missense	probably benign
G4846:Samd4	UTSW	14	47,253,776 (GRCm39)	missense	probably damaging	1.00
R0096:Samd4	UTSW	14	47,301,754 (GRCm39)	missense	possibly damaging	0.88
R0122:Samd4	UTSW	14	47,254,017 (GRCm39)	missense	probably benign	0.44
R0562:Samd4	UTSW	14	47,314,966 (GRCm39)	missense	probably damaging	1.00
R1247:Samd4	UTSW	14	47,325,215 (GRCm39)	small insertion	probably benign
R1247:Samd4	UTSW	14	47,301,785 (GRCm39)	critical splice donor site	probably benign
R1771:Samd4	UTSW	14	47,326,532 (GRCm39)	missense	probably damaging	1.00
R1902:Samd4	UTSW	14	47,311,585 (GRCm39)	missense	probably damaging	1.00
R1903:Samd4	UTSW	14	47,311,585 (GRCm39)	missense	probably damaging	1.00
R2346:Samd4	UTSW	14	47,122,299 (GRCm39)	missense	probably damaging	1.00
R4155:Samd4	UTSW	14	47,290,403 (GRCm39)	missense	possibly damaging	0.74
R4498:Samd4	UTSW	14	47,333,566 (GRCm39)	missense	probably damaging	1.00
R4510:Samd4	UTSW	14	47,315,042 (GRCm39)	missense	probably benign	0.05
R4658:Samd4	UTSW	14	47,301,703 (GRCm39)	missense	probably damaging	1.00
R4871:Samd4	UTSW	14	47,303,920 (GRCm39)	missense	probably damaging	1.00
R4991:Samd4	UTSW	14	47,311,467 (GRCm39)	missense	probably damaging	0.97
R5432:Samd4	UTSW	14	47,311,519 (GRCm39)	missense	probably benign	0.09
R5687:Samd4	UTSW	14	47,254,022 (GRCm39)	missense	probably benign
R6035:Samd4	UTSW	14	47,325,329 (GRCm39)	missense	probably damaging	1.00
R6035:Samd4	UTSW	14	47,325,329 (GRCm39)	missense	probably damaging	1.00
R6254:Samd4	UTSW	14	47,254,088 (GRCm39)	missense	probably damaging	1.00
R6366:Samd4	UTSW	14	47,311,607 (GRCm39)	critical splice donor site	probably null
R6376:Samd4	UTSW	14	47,290,419 (GRCm39)	missense	probably damaging	1.00
R6944:Samd4	UTSW	14	47,254,092 (GRCm39)	missense	possibly damaging	0.94
R7035:Samd4	UTSW	14	47,326,620 (GRCm39)	synonymous	silent
R7148:Samd4	UTSW	14	47,254,140 (GRCm39)	missense	probably benign	0.09
R7467:Samd4	UTSW	14	47,325,313 (GRCm39)	missense	probably benign	0.19
R7999:Samd4	UTSW	14	47,301,704 (GRCm39)	missense	probably damaging	0.99
R8301:Samd4	UTSW	14	47,254,135 (GRCm39)	missense	probably benign
R8306:Samd4	UTSW	14	47,122,374 (GRCm39)	missense	probably damaging	1.00
R8351:Samd4	UTSW	14	47,338,888 (GRCm39)	missense	probably damaging	1.00
R8451:Samd4	UTSW	14	47,338,888 (GRCm39)	missense	probably damaging	1.00
R9061:Samd4	UTSW	14	47,301,728 (GRCm39)	missense	probably damaging	1.00
R9103:Samd4	UTSW	14	47,254,066 (GRCm39)	missense	probably benign	0.04
X0018:Samd4	UTSW	14	47,254,153 (GRCm39)	missense	possibly damaging	0.94
X0022:Samd4	UTSW	14	47,311,474 (GRCm39)	missense	probably benign	0.45
Z0001:Samd4	UTSW	14	47,253,794 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-03-07