Mutagenetix > Incidental Mutation

Incidental Mutation 'R2172:Samd14'

237578

Institutional Source

Beutler Lab

Gene Symbol

Samd14

Ensembl Gene

ENSMUSG00000047181

Gene Name

sterile alpha motif domain containing 14

Synonyms

MMRRC Submission

040174-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2172 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

94900705-94916913 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 94905217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 10 (V10L)

Ref Sequence

ENSEMBL: ENSMUSP00000123361 (fasta)

Gene Model

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

AlphaFold

Q8K070

Predicted Effect

probably benign
Transcript: ENSMUST00000055947
AA Change: V10L

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

SMART Domains

Protein: ENSMUSP00000062231
Gene: ENSMUSG00000047181
AA Change: V10L

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
AA Change: V10L

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

SMART Domains

Protein: ENSMUSP00000123361
Gene: ENSMUSG00000047181
AA Change: V10L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128512

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 38,123,613 (GRCm39)	E441V	probably damaging	Het
Arfip2	T	A	7: 105,287,195 (GRCm39)	D64V	probably damaging	Het
Atg9a	C	A	1: 75,162,329 (GRCm39)	R527L	probably damaging	Het
Atp1a1	T	G	3: 101,497,864 (GRCm39)	I308L	probably benign	Het
Bcan	T	A	3: 87,903,888 (GRCm39)	Y199F	probably damaging	Het
Bsn	T	C	9: 107,987,191 (GRCm39)		probably benign	Het
Ccdc158	A	T	5: 92,780,367 (GRCm39)	L902H	probably damaging	Het
Dnah7b	A	G	1: 46,163,672 (GRCm39)	Y492C	probably benign	Het
Dnah9	G	T	11: 65,963,605 (GRCm39)	H1783N	probably damaging	Het
Dpep2	A	G	8: 106,715,630 (GRCm39)	V320A	possibly damaging	Het
Dsc2	A	G	18: 20,178,559 (GRCm39)	Y282H	probably damaging	Het
Egfr	C	T	11: 16,861,562 (GRCm39)	P1114S	probably benign	Het
Fastkd1	A	G	2: 69,530,477 (GRCm39)	S560P	probably damaging	Het
Gm14295	G	A	2: 176,502,895 (GRCm39)	R795Q	possibly damaging	Het
Gpr155	C	T	2: 73,212,471 (GRCm39)	V51I	probably benign	Het
Gsap	G	A	5: 21,427,438 (GRCm39)		probably null	Het
Hecw1	T	A	13: 14,552,291 (GRCm39)	I103F	probably damaging	Het
Herc3	T	A	6: 58,864,422 (GRCm39)	N685K	probably damaging	Het
Hnrnph1	T	A	11: 50,273,643 (GRCm39)	D244E	probably benign	Het
Hydin	A	G	8: 111,308,681 (GRCm39)	E3989G	probably benign	Het
Ibsp	T	C	5: 104,458,296 (GRCm39)	Y278H	probably damaging	Het
Ift57	T	G	16: 49,579,703 (GRCm39)	N291K	probably benign	Het
Il15ra	A	G	2: 11,728,382 (GRCm39)	T149A	possibly damaging	Het
Ints5	C	T	19: 8,873,646 (GRCm39)	T535I	possibly damaging	Het
Jarid2	T	C	13: 45,056,015 (GRCm39)	L268P	probably damaging	Het
Klhdc7a	T	A	4: 139,693,121 (GRCm39)	T609S	probably benign	Het
Lrrc49	A	G	9: 60,509,965 (GRCm39)	V429A	probably benign	Het
Lsm3	T	C	6: 91,499,254 (GRCm39)	V87A	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map1a	G	T	2: 121,138,413 (GRCm39)	V2726L	probably damaging	Het
Marveld3	A	C	8: 110,688,478 (GRCm39)	S88A	probably benign	Het
Mcm9	T	C	10: 53,424,670 (GRCm39)	D640G	probably damaging	Het
Mettl4	A	G	17: 95,040,591 (GRCm39)	I399T	probably benign	Het
Mmp27	T	A	9: 7,577,379 (GRCm39)	L274*	probably null	Het
Nacc2	A	C	2: 25,950,235 (GRCm39)	D500E	probably benign	Het
Nprl3	T	A	11: 32,184,894 (GRCm39)	M372L	probably benign	Het
Or5p6	A	T	7: 107,630,674 (GRCm39)	I292N	probably damaging	Het
Otud7b	T	G	3: 96,060,837 (GRCm39)		probably null	Het
Pcx	G	A	19: 4,670,909 (GRCm39)	R1070H	probably benign	Het
Ptprq	C	T	10: 107,426,855 (GRCm39)	W1560*	probably null	Het
Puf60	A	T	15: 75,942,313 (GRCm39)	I520N	probably damaging	Het
Qars1	C	T	9: 108,386,399 (GRCm39)	R143C	probably damaging	Het
Rfx3	G	A	19: 27,792,894 (GRCm39)	Q322*	probably null	Het
Setd2	G	A	9: 110,378,912 (GRCm39)	R909Q	probably benign	Het
Sh2d4a	T	C	8: 68,749,316 (GRCm39)	S117P	probably benign	Het
Sharpin	C	A	15: 76,234,866 (GRCm39)		probably benign	Het
Skor1	C	A	9: 63,052,404 (GRCm39)	A494S	possibly damaging	Het
Slc41a2	T	C	10: 83,119,638 (GRCm39)	T375A	probably benign	Het
Sparc	G	A	11: 55,286,627 (GRCm39)	Q324*	probably null	Het
Spopfm2	T	G	3: 94,083,605 (GRCm39)	K69Q	possibly damaging	Het
Srebf1	T	C	11: 60,097,328 (GRCm39)	T171A	probably benign	Het
Srrd	A	G	5: 112,488,988 (GRCm39)	I54T	possibly damaging	Het
Tecpr1	G	T	5: 144,133,235 (GRCm39)	Q1072K	probably damaging	Het
Tecpr1	A	T	5: 144,148,274 (GRCm39)	V377E	probably benign	Het
Tln1	T	A	4: 43,545,721 (GRCm39)	H919L	probably benign	Het
Tm9sf3	C	T	19: 41,205,859 (GRCm39)	S516N	probably damaging	Het
Trpa1	T	A	1: 14,951,880 (GRCm39)	T940S	probably benign	Het
Trpv4	G	A	5: 114,782,771 (GRCm39)	R64C	probably damaging	Het
Tufm	A	G	7: 126,088,019 (GRCm39)	E174G	probably benign	Het
Urb2	A	G	8: 124,757,841 (GRCm39)	T1183A	probably damaging	Het
Virma	A	T	4: 11,527,843 (GRCm39)	M1245L	possibly damaging	Het
Vmn2r32	T	C	7: 7,477,614 (GRCm39)	Y259C	probably damaging	Het
Zfp329	A	G	7: 12,544,694 (GRCm39)	F277L	probably damaging	Het
Zfp683	C	T	4: 133,783,106 (GRCm39)	T190I	possibly damaging	Het

Other mutations in Samd14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Samd14	APN	11	94,912,294 (GRCm39)	unclassified	probably benign
IGL01466:Samd14	APN	11	94,914,081 (GRCm39)	unclassified	probably benign
IGL02212:Samd14	APN	11	94,914,176 (GRCm39)	missense	probably damaging	0.98
R1835:Samd14	UTSW	11	94,914,426 (GRCm39)	missense	probably damaging	1.00
R2004:Samd14	UTSW	11	94,914,110 (GRCm39)	missense	probably damaging	0.99
R4584:Samd14	UTSW	11	94,912,361 (GRCm39)	splice site	probably null
R5133:Samd14	UTSW	11	94,912,409 (GRCm39)	missense	probably damaging	0.98
R6852:Samd14	UTSW	11	94,912,280 (GRCm39)	missense	probably damaging	1.00
R7563:Samd14	UTSW	11	94,912,239 (GRCm39)	missense	probably benign	0.03
R7923:Samd14	UTSW	11	94,914,284 (GRCm39)	critical splice acceptor site	probably null
R8215:Samd14	UTSW	11	94,905,213 (GRCm39)	missense	probably benign
R8915:Samd14	UTSW	11	94,912,027 (GRCm39)	missense	probably damaging	1.00
R8933:Samd14	UTSW	11	94,912,027 (GRCm39)	missense	probably damaging	1.00
R8945:Samd14	UTSW	11	94,912,027 (GRCm39)	missense	probably damaging	1.00
R9500:Samd14	UTSW	11	94,914,372 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTCTTCCAAGGGCCAGAGAAAG -3'
(R):5'- GGTCACATCAGCATCTGCAC -3'

Sequencing Primer
(F):5'- GAGGACAGTGGGTGGGC -3'
(R):5'- GTCACATCAGCATCTGCACCTTAC -3'

Posted On

2014-10-02