Mutagenetix > Incidental Mutation

Incidental Mutation 'R8301:Samd4'

639282

Institutional Source

Beutler Lab

Gene Symbol

Samd4

Ensembl Gene

ENSMUSG00000021838

Gene Name

sterile alpha motif domain containing 4

Synonyms

4933436G17Rik, 1700024G08Rik, Smaug, 1700111L17Rik

MMRRC Submission

067789-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.749) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46882854-47105815 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47016678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 200 (I200V)

Ref Sequence

ENSEMBL: ENSMUSP00000022386 (fasta)

Gene Model

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

AlphaFold

Q8CBY1

Predicted Effect

probably benign
Transcript: ENSMUST00000022386
AA Change: I200V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022386
Gene: ENSMUSG00000021838
AA Change: I200V

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: I200V

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098237
Gene: ENSMUSG00000021838
AA Change: I200V

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: I99V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122833
Gene: ENSMUSG00000021838
AA Change: I99V

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: I200V

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114621
Gene: ENSMUSG00000021838
AA Change: I200V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,972,505 (GRCm38)	I374F	probably benign	Het
Ak9	G	A	10: 41,424,716 (GRCm38)	V1108I		Het
Aldh16a1	C	T	7: 45,141,982 (GRCm38)	A790T	possibly damaging	Het
Anks1	A	T	17: 28,059,580 (GRCm38)		probably benign	Het
Antxr2	T	G	5: 97,977,679 (GRCm38)	T240P	probably benign	Het
Arfgef1	A	T	1: 10,179,833 (GRCm38)	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,879,659 (GRCm38)	T1591A	probably benign	Het
Aurka	A	G	2: 172,356,930 (GRCm38)	S374P	probably damaging	Het
Bccip	T	C	7: 133,719,204 (GRCm38)	S236P	probably benign	Het
Cacna1s	T	A	1: 136,073,441 (GRCm38)		probably benign	Het
Calm1	A	G	12: 100,205,685 (GRCm38)	E132G	probably benign	Het
Casz1	A	G	4: 148,946,043 (GRCm38)	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659 (GRCm38)	D413G	probably damaging	Het
Cfap57	A	G	4: 118,593,074 (GRCm38)	I617T	possibly damaging	Het
Creb5	A	G	6: 53,681,033 (GRCm38)	D116G	possibly damaging	Het
Csnka2ip	A	C	16: 64,478,991 (GRCm38)	S337A	unknown	Het
Ddx60	A	G	8: 62,000,597 (GRCm38)	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,823,577 (GRCm38)	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,485,111 (GRCm38)		probably benign	Het
Ebf2	A	G	14: 67,238,982 (GRCm38)	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,172,909 (GRCm38)	M136L	probably benign	Het
Enpp2	A	G	15: 54,851,407 (GRCm38)	F598S	probably benign	Het
Extl3	A	C	14: 65,076,284 (GRCm38)	L483R	probably damaging	Het
Gcat	T	C	15: 79,035,889 (GRCm38)	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,505,346 (GRCm38)	D344G	probably damaging	Het
Ighm	C	T	12: 113,421,545 (GRCm38)	G265D		Het
Igsf9b	T	G	9: 27,334,739 (GRCm38)		probably benign	Het
Ints6	A	G	14: 62,702,453 (GRCm38)	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120 (GRCm38)	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,682,151 (GRCm38)		probably null	Het
Kalrn	G	T	16: 34,357,100 (GRCm38)	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,544,488 (GRCm38)	N46Y	probably damaging	Het
Myl10	G	C	5: 136,697,971 (GRCm38)	V70L	probably benign	Het
Naa50	A	G	16: 44,157,131 (GRCm38)	N74S	probably benign	Het
Neb	T	C	2: 52,288,835 (GRCm38)	N1303S	probably benign	Het
Nfs1	A	T	2: 156,134,493 (GRCm38)	C160*	probably null	Het
Olfr472	A	G	7: 107,903,626 (GRCm38)	K303R	probably benign	Het
Olfr591	T	G	7: 103,173,073 (GRCm38)	K188T	probably damaging	Het
Olfr740	T	A	14: 50,453,564 (GRCm38)	S171T	probably benign	Het
Olfr809	T	C	10: 129,776,840 (GRCm38)	S309P	probably benign	Het
Orm2	T	C	4: 63,363,026 (GRCm38)	F67S	possibly damaging	Het
Pex5	A	G	6: 124,405,183 (GRCm38)	S180P	probably benign	Het
Phf14	G	C	6: 11,992,062 (GRCm38)	G746R	probably damaging	Het
Pkm	T	A	9: 59,668,631 (GRCm38)	V110E	probably damaging	Het
Plekha6	T	G	1: 133,264,687 (GRCm38)	N78K	probably damaging	Het
Plxna2	G	A	1: 194,790,175 (GRCm38)	V1076I	probably benign	Het
Polq	C	A	16: 37,061,819 (GRCm38)	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,687,895 (GRCm38)	T256A	probably benign	Het
Prkch	C	T	12: 73,702,764 (GRCm38)	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,199,185 (GRCm38)		probably benign	Het
Prl7b1	A	C	13: 27,602,772 (GRCm38)	V158G	possibly damaging	Het
Prss22	T	C	17: 23,993,981 (GRCm38)	S261G	probably damaging	Het
Psd	T	C	19: 46,321,102 (GRCm38)		probably benign	Het
Psg18	A	T	7: 18,353,377 (GRCm38)	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,852,794 (GRCm38)	R218S	probably damaging	Het
Rnf213	T	A	11: 119,434,742 (GRCm38)	S1491T		Het
Rsf1	T	C	7: 97,661,925 (GRCm38)	S621P		Het
Runx1	C	A	16: 92,605,656 (GRCm38)	*466L	probably null	Het
Sdsl	C	T	5: 120,459,519 (GRCm38)	C241Y	probably benign	Het
Selenon	T	C	4: 134,551,414 (GRCm38)		probably benign	Het
Setx	C	T	2: 29,145,690 (GRCm38)	P729L	possibly damaging	Het
Sf1	C	T	19: 6,368,366 (GRCm38)	Q55*	probably null	Het
Slc12a5	A	T	2: 164,993,691 (GRCm38)	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,332,286 (GRCm38)	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,181,837 (GRCm38)	A324S	probably benign	Het
Tmem217	A	G	17: 29,526,492 (GRCm38)	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,860,878 (GRCm38)	I61N	probably benign	Het
Tpbgl	G	T	7: 99,625,567 (GRCm38)	A361E	probably damaging	Het
Trhde	T	A	10: 114,487,006 (GRCm38)	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568 (GRCm38)	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,858,302 (GRCm38)	C601S	probably benign	Het
Zfp873	C	A	10: 82,060,879 (GRCm38)	H481Q	probably damaging	Het

Other mutations in Samd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Samd4	APN	14	47,052,898 (GRCm38)	missense	probably damaging	1.00
IGL01413:Samd4	APN	14	47,016,792 (GRCm38)	missense	probably benign	0.01
supermodel	UTSW	14	47,016,337 (GRCm38)	missense	probably damaging	1.00
B6584:Samd4	UTSW	14	47,016,337 (GRCm38)	missense	probably damaging	1.00
G1Funyon:Samd4	UTSW	14	47,016,678 (GRCm38)	missense	probably benign
G4846:Samd4	UTSW	14	47,016,319 (GRCm38)	missense	probably damaging	1.00
R0096:Samd4	UTSW	14	47,064,297 (GRCm38)	missense	possibly damaging	0.88
R0122:Samd4	UTSW	14	47,016,560 (GRCm38)	missense	probably benign	0.44
R0562:Samd4	UTSW	14	47,077,509 (GRCm38)	missense	probably damaging	1.00
R1247:Samd4	UTSW	14	47,087,758 (GRCm38)	small insertion	probably benign
R1247:Samd4	UTSW	14	47,064,328 (GRCm38)	critical splice donor site	probably benign
R1771:Samd4	UTSW	14	47,089,075 (GRCm38)	missense	probably damaging	1.00
R1902:Samd4	UTSW	14	47,074,128 (GRCm38)	missense	probably damaging	1.00
R1903:Samd4	UTSW	14	47,074,128 (GRCm38)	missense	probably damaging	1.00
R2346:Samd4	UTSW	14	46,884,842 (GRCm38)	missense	probably damaging	1.00
R4155:Samd4	UTSW	14	47,052,946 (GRCm38)	missense	possibly damaging	0.74
R4498:Samd4	UTSW	14	47,096,109 (GRCm38)	missense	probably damaging	1.00
R4510:Samd4	UTSW	14	47,077,585 (GRCm38)	missense	probably benign	0.05
R4511:Samd4	UTSW	14	47,077,585 (GRCm38)	missense	probably benign	0.05
R4658:Samd4	UTSW	14	47,064,246 (GRCm38)	missense	probably damaging	1.00
R4871:Samd4	UTSW	14	47,066,463 (GRCm38)	missense	probably damaging	1.00
R4991:Samd4	UTSW	14	47,074,010 (GRCm38)	missense	probably damaging	0.97
R5432:Samd4	UTSW	14	47,074,062 (GRCm38)	missense	probably benign	0.09
R5687:Samd4	UTSW	14	47,016,565 (GRCm38)	missense	probably benign
R6035:Samd4	UTSW	14	47,087,872 (GRCm38)	missense	probably damaging	1.00
R6035:Samd4	UTSW	14	47,087,872 (GRCm38)	missense	probably damaging	1.00
R6254:Samd4	UTSW	14	47,016,631 (GRCm38)	missense	probably damaging	1.00
R6366:Samd4	UTSW	14	47,074,150 (GRCm38)	critical splice donor site	probably null
R6376:Samd4	UTSW	14	47,052,962 (GRCm38)	missense	probably damaging	1.00
R6944:Samd4	UTSW	14	47,016,635 (GRCm38)	missense	possibly damaging	0.94
R7035:Samd4	UTSW	14	47,089,163 (GRCm38)	synonymous	silent
R7148:Samd4	UTSW	14	47,016,683 (GRCm38)	missense	probably benign	0.09
R7467:Samd4	UTSW	14	47,087,856 (GRCm38)	missense	probably benign	0.19
R7999:Samd4	UTSW	14	47,064,247 (GRCm38)	missense	probably damaging	0.99
R8306:Samd4	UTSW	14	46,884,917 (GRCm38)	missense	probably damaging	1.00
R8351:Samd4	UTSW	14	47,101,431 (GRCm38)	missense	probably damaging	1.00
R8451:Samd4	UTSW	14	47,101,431 (GRCm38)	missense	probably damaging	1.00
R9061:Samd4	UTSW	14	47,064,271 (GRCm38)	missense	probably damaging	1.00
R9103:Samd4	UTSW	14	47,016,609 (GRCm38)	missense	probably benign	0.04
X0018:Samd4	UTSW	14	47,016,696 (GRCm38)	missense	possibly damaging	0.94
X0022:Samd4	UTSW	14	47,074,017 (GRCm38)	missense	probably benign	0.45
Z0001:Samd4	UTSW	14	47,016,337 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATGTGGCTGAATCACTTGG -3'
(R):5'- CCATAGCTGAATGCCACCAG -3'

Sequencing Primer
(F):5'- TGGCTGAATCACTTGGAGGACC -3'
(R):5'- GTTACAGGGTGCTCAGAGC -3'

Posted On

2020-07-28