Mutagenetix > Incidental Mutation

Incidental Mutation 'R6254:Samd4'

506019

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

044371-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.784) question?

Stock #

R6254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47120414-47343274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47254088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 184 (D184G)

Ref Sequence

ENSEMBL: ENSMUSP00000114621 (fasta)

Gene Model

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

AlphaFold

Q8CBY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022386
AA Change: D184G

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

SMART Domains

Protein: ENSMUSP00000022386
Gene: ENSMUSG00000021838
AA Change: D184G

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 damaging
Transcript: ENSMUST00000100672
AA Change: D184G

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

SMART Domains

Protein: ENSMUSP00000098237
Gene: ENSMUSG00000021838
AA Change: D184G

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 damaging
Transcript: ENSMUST00000125113
AA Change: D83G

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

SMART Domains

Protein: ENSMUSP00000122833
Gene: ENSMUSG00000021838
AA Change: D83G

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 damaging
Transcript: ENSMUST00000137543
AA Change: D184G

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

SMART Domains

Protein: ENSMUSP00000114621
Gene: ENSMUSG00000021838
AA Change: D184G

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: D83G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.0917

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.4%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,453,190 (GRCm39)	L2F	probably damaging	Het
Ank2	T	A	3: 126,735,453 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,488,981 (GRCm39)	D369A	probably damaging	Het
App	T	C	16: 84,775,065 (GRCm39)	E599G	probably damaging	Het
Asphd1	C	T	7: 126,548,040 (GRCm39)	V88I	probably benign	Het
Atad5	A	T	11: 80,018,215 (GRCm39)	I1389F	probably damaging	Het
Blm	T	C	7: 80,130,090 (GRCm39)	N950S	probably benign	Het
Bsn	A	T	9: 107,989,065 (GRCm39)	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,386,415 (GRCm39)	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,162 (GRCm39)		probably null	Het
Cdh1	T	A	8: 107,390,430 (GRCm39)	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,282,269 (GRCm39)	T160M	probably damaging	Het
Cfap97d2	A	G	8: 13,756,043 (GRCm39)	D26G	possibly damaging	Het
Cfhr4	A	G	1: 139,682,128 (GRCm39)	I156T	probably damaging	Het
Chrna5	A	G	9: 54,913,740 (GRCm39)	M325V	probably benign	Het
Clca3a2	A	G	3: 144,507,895 (GRCm39)	I116T	probably benign	Het
Cyp2c23	T	C	19: 43,993,902 (GRCm39)	K488R	probably benign	Het
Edil3	T	A	13: 89,467,848 (GRCm39)	I451N	probably damaging	Het
Exph5	T	G	9: 53,284,010 (GRCm39)	S364A	possibly damaging	Het
Fam98c	A	G	7: 28,853,942 (GRCm39)	S209P	probably damaging	Het
Fat3	G	A	9: 15,907,441 (GRCm39)	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,638,571 (GRCm39)		probably null	Het
Fermt2	T	C	14: 45,713,516 (GRCm39)	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,087,141 (GRCm39)		probably benign	Het
Fn3k	A	G	11: 121,325,894 (GRCm39)	E27G	probably damaging	Het
Foxj2	A	G	6: 122,815,098 (GRCm39)	H378R	probably damaging	Het
Fubp1	A	G	3: 151,938,045 (GRCm39)	K140E	possibly damaging	Het
Gm7694	A	T	1: 170,130,103 (GRCm39)	C98*	probably null	Het
Golgb1	T	C	16: 36,734,340 (GRCm39)	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,500,431 (GRCm39)		probably null	Het
Hltf	T	A	3: 20,117,993 (GRCm39)	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,514,020 (GRCm39)	R251H	probably benign	Het
Ipo7	T	A	7: 109,648,267 (GRCm39)	D688E	probably benign	Het
Itgal	T	A	7: 126,924,375 (GRCm39)	N897K	probably damaging	Het
Itsn2	A	G	12: 4,674,982 (GRCm39)		probably null	Het
Kcnk13	A	G	12: 99,931,631 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,147,203 (GRCm39)	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,554,872 (GRCm39)	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,325,912 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,527,371 (GRCm39)	D406V	possibly damaging	Het
Lratd2	A	G	15: 60,695,650 (GRCm39)	I32T	probably damaging	Het
Lrriq1	A	T	10: 103,051,312 (GRCm39)	V480E	probably benign	Het
Mtcl1	C	T	17: 66,665,129 (GRCm39)	R1142H	probably benign	Het
Mtmr3	G	A	11: 4,447,381 (GRCm39)	Q360*	probably null	Het
Muc6	T	C	7: 141,237,380 (GRCm39)	N252S	probably benign	Het
Naa20	T	C	2: 145,745,240 (GRCm39)	L4P	probably damaging	Het
Neb	T	A	2: 52,112,973 (GRCm39)	I4274L	probably benign	Het
Noa1	A	T	5: 77,457,516 (GRCm39)	F130I	probably benign	Het
Nrg4	G	T	9: 55,143,796 (GRCm39)	H87N	possibly damaging	Het
Or51ai2	T	A	7: 103,586,741 (GRCm39)	H51Q	probably benign	Het
Or5m12	T	A	2: 85,734,849 (GRCm39)	Y183F	probably damaging	Het
P3h3	C	T	6: 124,822,564 (GRCm39)	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,554,771 (GRCm39)	S34P	probably damaging	Het
Pik3r1	T	C	13: 101,825,914 (GRCm39)	T71A	possibly damaging	Het
Plaur	T	A	7: 24,166,225 (GRCm39)	C99S	possibly damaging	Het
Plekha5	G	A	6: 140,532,162 (GRCm39)	G501E	probably damaging	Het
Plxnd1	C	T	6: 115,954,921 (GRCm39)	V614M	probably benign	Het
Ppp2r3d	T	C	9: 101,025,786 (GRCm39)	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,341,453 (GRCm39)	S28F	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Ptk7	C	A	17: 46,883,568 (GRCm39)	Q832H	probably damaging	Het
Qser1	T	C	2: 104,620,435 (GRCm39)	S126G	probably benign	Het
Rab3ip	A	T	10: 116,751,772 (GRCm39)	C332S	probably damaging	Het
Raly	C	A	2: 154,699,286 (GRCm39)	T30K	probably damaging	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,594,535 (GRCm39)	M159I	possibly damaging	Het
Rufy3	C	T	5: 88,732,168 (GRCm39)	T57I	probably benign	Het
Slc35f3	T	C	8: 127,047,833 (GRCm39)	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,611,173 (GRCm39)	I1467T	probably damaging	Het
Spag17	T	G	3: 99,972,901 (GRCm39)	I1371S	probably benign	Het
Sptan1	T	C	2: 29,897,561 (GRCm39)	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,398,631 (GRCm39)	A344V	probably benign	Het
Supt16	A	G	14: 52,408,291 (GRCm39)	W885R	probably damaging	Het
Tdrd9	T	A	12: 111,992,334 (GRCm39)		probably null	Het
Tmod1	A	G	4: 46,078,469 (GRCm39)		probably null	Het
Tnfsf13	A	C	11: 69,575,309 (GRCm39)		probably null	Het
Trim75	C	A	8: 65,436,094 (GRCm39)	E119*	probably null	Het
Wdr6	T	C	9: 108,452,110 (GRCm39)	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,923,281 (GRCm39)	R137H	probably benign	Het
Ythdf1	T	A	2: 180,552,943 (GRCm39)	Y424F	probably damaging	Het
Zfp984	G	T	4: 147,840,643 (GRCm39)	S69R	possibly damaging	Het
Zyg11a	A	G	4: 108,038,991 (GRCm39)	F743L	probably damaging	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
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
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

PCR Primer
(F):5'- ACCAGCACATTGAGGAGAGC -3'
(R):5'- AAACCCGAATGCGTTCCAGG -3'

Sequencing Primer
(F):5'- AGGCAGCTGCTGTCCTATG -3'
(R):5'- GAATGCGTTCCAGGGTCTC -3'

Posted On

2018-02-28