Mutagenetix > Incidental Mutations

Incidental Mutation 'R7563:Samd14'

585271

Institutional Source

Beutler Lab

Gene Symbol

Samd14

Ensembl Gene

ENSMUSG00000047181

Gene Name

sterile alpha motif domain containing 14

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R7563 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95009879-95026087 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95021413 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 205 (S205R)

Ref Sequence

ENSEMBL: ENSMUSP00000062231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038431] [ENSMUST00000055947] [ENSMUST00000124735]

Predicted Effect

probably benign
Transcript: ENSMUST00000038431

SMART Domains

Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967

Domain	Start	End	E-Value	Type
Pfam:BCDHK_Adom3	30	192	3.8e-52	PFAM
HATPase_c	240	364	9.32e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000055947
AA Change: S205R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000062231
Gene: ENSMUSG00000047181
AA Change: S205R

Domain	Start	End	E-Value	Type
low complexity region	42	57	N/A	INTRINSIC
low complexity region	138	153	N/A	INTRINSIC
low complexity region	244	260	N/A	INTRINSIC
low complexity region	276	289	N/A	INTRINSIC
SAM	323	389	7.96e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124735

SMART Domains

Protein: ENSMUSP00000123361
Gene: ENSMUSG00000047181

Domain	Start	End	E-Value	Type
SCOP:d1jj2w_	21	62	1e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	T	17: 23,717,328	F8L	probably benign	Het
Aadacl3	A	G	4: 144,457,894	I98T	probably damaging	Het
Ahnak	T	C	19: 9,011,165	I3271T	probably damaging	Het
Aox1	G	A	1: 58,047,145	V70I	probably benign	Het
Ap1g2	A	G	14: 55,099,749	S710P	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857		probably null	Het
Cacna1e	T	C	1: 154,471,416	K1064E	probably benign	Het
Capn11	T	A	17: 45,633,965	I459F	probably damaging	Het
Ccnc	A	G	4: 21,732,220	I48V	probably damaging	Het
Ces1d	T	A	8: 93,178,039	I358F	probably benign	Het
Clgn	A	T	8: 83,420,556	N379I	probably damaging	Het
Cym	T	C	3: 107,214,232	Y248C	probably damaging	Het
Epha8	T	C	4: 136,938,789	D352G	possibly damaging	Het
Eya2	T	C	2: 165,716,130		probably null	Het
Fbxl5	C	T	5: 43,821,549	V20I	probably benign	Het
Fscb	T	C	12: 64,473,285	E469G	possibly damaging	Het
Glt8d2	A	T	10: 82,660,825		probably null	Het
Gm13088	A	T	4: 143,654,105	Y449*	probably null	Het
Helt	T	C	8: 46,293,593		probably benign	Het
Igkv8-27	G	T	6: 70,171,903	T89K	probably benign	Het
Ipo5	T	A	14: 120,946,155	H1048Q	probably benign	Het
Kalrn	T	C	16: 34,392,094	D28G	probably damaging	Het
Kcnh4	G	A	11: 100,741,854	P936S	probably benign	Het
Klrd1	A	G	6: 129,593,738	I37M	possibly damaging	Het
Kmt2e	T	C	5: 23,500,273	V1267A	probably damaging	Het
Lrrc29	A	G	8: 105,315,756	C147R	probably benign	Het
March1	A	T	8: 66,468,313	Q214L	probably damaging	Het
Mlip	G	T	9: 77,112,997	H52N	probably damaging	Het
Oas1e	T	C	5: 120,788,956	R229G	probably benign	Het
Ogfr	T	A	2: 180,592,507		probably null	Het
Olfr1023	T	A	2: 85,887,138	Y113N	probably damaging	Het
Olfr1279	T	C	2: 111,306,789	F195L	probably benign	Het
Pde4d	T	C	13: 109,951,007	I636T	probably benign	Het
Pex5l	C	T	3: 32,954,476	V426I	probably damaging	Het
Pmfbp1	A	G	8: 109,525,374	K384E	possibly damaging	Het
Prl6a1	T	G	13: 27,314,238		probably null	Het
Prss23	A	T	7: 89,509,830	W344R	probably damaging	Het
Ptar1	T	A	19: 23,720,316	D397E	probably benign	Het
Qrsl1	G	A	10: 43,876,517	R437C	probably damaging	Het
Rab6a	G	T	7: 100,608,197		probably benign	Het
Sel1l3	T	C	5: 53,185,984	Y322C	probably damaging	Het
Slc30a5	A	T	13: 100,803,972	L669I	probably benign	Het
Ssc4d	A	G	5: 135,963,033	L419P	probably damaging	Het
Tbc1d2b	A	T	9: 90,219,010	Y642*	probably null	Het
Tbc1d2b	A	C	9: 90,226,248	F417V	probably benign	Het
Top2a	T	C	11: 99,016,179	D212G	probably damaging	Het
Trim39	A	T	17: 36,260,915	V317E	probably damaging	Het
Uncx	G	A	5: 139,544,506	R113H	probably damaging	Het
Usp4	A	G	9: 108,379,344	S655G	probably benign	Het
Vmn2r114	C	T	17: 23,291,026	V827I	probably benign	Het
Vmn2r28	T	A	7: 5,488,201	N349I	probably benign	Het
Vmn2r3	A	G	3: 64,275,349	W310R	possibly damaging	Het
Xirp2	T	C	2: 67,509,901	W829R	probably damaging	Het
Zfp574	C	A	7: 25,081,352	H600N	possibly damaging	Het

Other mutations in Samd14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Samd14	APN	11	95021468	unclassified	probably benign
IGL01466:Samd14	APN	11	95023255	unclassified	probably benign
IGL02212:Samd14	APN	11	95023350	missense	probably damaging	0.98
R1835:Samd14	UTSW	11	95023600	missense	probably damaging	1.00
R2004:Samd14	UTSW	11	95023284	missense	probably damaging	0.99
R2172:Samd14	UTSW	11	95014391	missense	probably benign
R4584:Samd14	UTSW	11	95021535	splice site	probably null
R5133:Samd14	UTSW	11	95021583	missense	probably damaging	0.98
R6852:Samd14	UTSW	11	95021454	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAAAGATGACAGCCGGGATGC -3'
(R):5'- CTGTCCGTGAACCAGGAAAAG -3'

Sequencing Primer
(F):5'- TGCCAGCCCCACCATCG -3'
(R):5'- CAGGAACGGGGAGCTTCCTG -3'

Posted On

2019-10-17