Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01413:Samd4'

80121

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Samd4

Ensembl Gene

ENSMUSG00000021838

Gene Name

sterile alpha motif domain containing 4

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.784) question?

Stock #

IGL01413

Quality Score

Status

Chromosome

Chromosomal Location

47120414-47343274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47254249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 137 (T137A)

Ref Sequence

ENSEMBL: ENSMUSP00000153846 (fasta)

Gene Model

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

AlphaFold

Q8CBY1

Predicted Effect

probably benign
Transcript: ENSMUST00000022386
AA Change: T238A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000022386
Gene: ENSMUSG00000021838
AA Change: T238A

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: T238A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000098237
Gene: ENSMUSG00000021838
AA Change: T238A

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: T137A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000122833
Gene: ENSMUSG00000021838
AA Change: T137A

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: ENSMUST00000137543
AA Change: T238A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000114621
Gene: ENSMUSG00000021838
AA Change: T238A

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: ENSMUST00000228404
AA Change: T137A

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

Coding Region Coverage

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	T	18: 74,939,015 (GRCm39)		probably benign	Het
Adgrl1	T	A	8: 84,656,486 (GRCm39)	I268N	probably damaging	Het
Asic1	T	A	15: 99,569,998 (GRCm39)	N106K	probably damaging	Het
Ass1	A	G	2: 31,366,934 (GRCm39)	Y11C	probably damaging	Het
Cd44	T	C	2: 102,644,632 (GRCm39)	E448G	probably damaging	Het
Cdca2	A	G	14: 67,915,343 (GRCm39)	S639P	probably damaging	Het
Cfap221	T	A	1: 119,912,801 (GRCm39)	H91L	possibly damaging	Het
Cmtr1	T	C	17: 29,916,956 (GRCm39)	S618P	probably benign	Het
Cnga4	A	T	7: 105,054,169 (GRCm39)	M46L	probably benign	Het
Col4a4	C	T	1: 82,448,969 (GRCm39)	G1207E	unknown	Het
Cracdl	G	A	1: 37,651,387 (GRCm39)	A1160V	possibly damaging	Het
Cthrc1	T	A	15: 38,943,894 (GRCm39)	L58Q	possibly damaging	Het
Cyb561a3	T	A	19: 10,562,610 (GRCm39)	H83Q	probably damaging	Het
Dlgap1	C	A	17: 70,823,069 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,323,790 (GRCm39)	L3707F	probably damaging	Het
Dnai7	A	T	6: 145,120,812 (GRCm39)	M669K	probably damaging	Het
Duox1	A	G	2: 122,151,191 (GRCm39)	N289D	probably benign	Het
Fbrsl1	T	A	5: 110,526,114 (GRCm39)	E443D	probably damaging	Het
Fgfr1	T	A	8: 26,052,239 (GRCm39)	C288*	probably null	Het
Gabbr1	A	G	17: 37,373,598 (GRCm39)	N498S	possibly damaging	Het
Gja10	T	C	4: 32,602,070 (GRCm39)	K105E	probably damaging	Het
Glra4	C	T	X: 135,663,493 (GRCm39)	R352H	probably benign	Het
Gm19402	G	T	10: 77,526,323 (GRCm39)		probably benign	Het
Hadha	T	A	5: 30,346,025 (GRCm39)	M200L	probably benign	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Huwe1	A	T	X: 150,665,676 (GRCm39)	Q1231L	possibly damaging	Het
Ifi214	T	A	1: 173,356,995 (GRCm39)	N36I	probably damaging	Het
Il17ra	A	G	6: 120,452,542 (GRCm39)	N242D	probably benign	Het
Il1rl1	A	T	1: 40,485,329 (GRCm39)	K260N	possibly damaging	Het
Lhx6	C	A	2: 35,993,528 (GRCm39)	A57S	probably benign	Het
Mdh2	T	A	5: 135,814,879 (GRCm39)	I116N	probably damaging	Het
Met	T	C	6: 17,558,895 (GRCm39)		probably benign	Het
Mgam	A	G	6: 40,638,211 (GRCm39)	D387G	probably damaging	Het
Myo3a	T	C	2: 22,302,411 (GRCm39)	S287P	probably benign	Het
Nol8	T	G	13: 49,813,428 (GRCm39)	N140K	possibly damaging	Het
Nrap	C	A	19: 56,377,823 (GRCm39)	A56S	probably damaging	Het
Nuggc	A	G	14: 65,876,030 (GRCm39)	T548A	probably benign	Het
Or10j2	T	A	1: 173,098,275 (GRCm39)	C178S	probably damaging	Het
Or2i1	A	T	17: 37,508,554 (GRCm39)	F102I	possibly damaging	Het
Pcdh11x	A	G	X: 119,309,282 (GRCm39)	T242A	probably benign	Het
Pcdhb8	A	G	18: 37,489,029 (GRCm39)	N236D	probably damaging	Het
Pdzph1	T	C	17: 59,186,147 (GRCm39)	I1215V	possibly damaging	Het
Plekha8	C	T	6: 54,599,261 (GRCm39)	T265I	probably benign	Het
Pou4f2	T	A	8: 79,161,734 (GRCm39)	I290F	probably damaging	Het
Pramel22	A	T	4: 143,381,887 (GRCm39)	F270I	probably benign	Het
Ptpn3	G	A	4: 57,270,156 (GRCm39)	T2I	probably damaging	Het
Rab28	A	T	5: 41,855,790 (GRCm39)	D68E	probably damaging	Het
Rbl1	T	C	2: 156,994,812 (GRCm39)		probably null	Het
Serpinb1b	T	G	13: 33,277,842 (GRCm39)	D358E	probably damaging	Het
Serpinb9c	G	A	13: 33,335,787 (GRCm39)	L222F	probably damaging	Het
Slc24a3	A	G	2: 145,482,169 (GRCm39)	D609G	probably damaging	Het
Slc25a40	A	C	5: 8,503,298 (GRCm39)	*338Y	probably null	Het
Spef2	T	A	15: 9,676,376 (GRCm39)	I732L	probably benign	Het
Srrm2	T	C	17: 24,034,999 (GRCm39)		probably benign	Het
Ssxb13	A	G	X: 8,615,692 (GRCm39)	E75G	probably benign	Het
Stmnd1	A	T	13: 46,453,157 (GRCm39)	I278L	probably benign	Het
Strap	C	A	6: 137,722,502 (GRCm39)		probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tcf4	A	C	18: 69,788,090 (GRCm39)	E160D	probably damaging	Het
Themis3	A	G	17: 66,863,092 (GRCm39)	Y289H	probably benign	Het
Tmem87a	T	C	2: 120,216,351 (GRCm39)	T180A	probably benign	Het
Trappc10	A	G	10: 78,033,678 (GRCm39)	V963A	possibly damaging	Het
Trav19	G	T	14: 54,083,072 (GRCm39)	C49F	probably damaging	Het
Trim30c	A	G	7: 104,031,541 (GRCm39)	S425P	possibly damaging	Het
Ubap1	A	T	4: 41,387,333 (GRCm39)	R414S	probably benign	Het
Usp9x	A	G	X: 13,017,579 (GRCm39)	S1696G	probably benign	Het
Vipas39	G	A	12: 87,296,171 (GRCm39)	T274I	probably benign	Het
Vmn1r185	A	T	7: 26,311,046 (GRCm39)	V153E	probably damaging	Het
Vmn2r124	A	G	17: 18,282,827 (GRCm39)	T174A	probably benign	Het
Wdr59	T	A	8: 112,227,706 (GRCm39)	S124C	probably benign	Het
Xirp2	A	T	2: 67,340,270 (GRCm39)	D837V	probably damaging	Het
Zfp185	A	G	X: 72,061,997 (GRCm39)	D403G	possibly damaging	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	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
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
R4511: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

Posted On

2013-11-05