Mutagenetix > Incidental Mutation

Incidental Mutation 'R1541:Srm'

171723

Institutional Source

Beutler Lab

Gene Symbol

Srm

Ensembl Gene

ENSMUSG00000006442

Gene Name

spermidine synthase

Synonyms

SpdSy, SpdST

MMRRC Submission

039580-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.617) question?

Stock #

R1541 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

148675970-148679076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148677881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 173 (D173G)

Ref Sequence

ENSEMBL: ENSMUSP00000006611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006611]

AlphaFold

Q64674

Predicted Effect

probably damaging
Transcript: ENSMUST00000006611
AA Change: D173G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006611
Gene: ENSMUSG00000006442
AA Change: D173G

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
Pfam:Spermine_synth	19	262	6.4e-99	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152701

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	A	G	14: 103,286,769 (GRCm39)	D24G	probably damaging	Het
Angptl2	G	A	2: 33,136,177 (GRCm39)	R454H	probably benign	Het
Atat1	T	A	17: 36,215,223 (GRCm39)	N181I	probably damaging	Het
Atp6v0d2	A	C	4: 19,910,645 (GRCm39)	F82V	probably damaging	Het
Calhm4	T	C	10: 33,917,659 (GRCm39)	H264R	probably benign	Het
Casp3	A	G	8: 47,087,369 (GRCm39)	I105M	probably benign	Het
Ccdc33	T	A	9: 58,024,749 (GRCm39)	D159V	probably damaging	Het
Cd163	A	C	6: 124,304,920 (GRCm39)	D1099A	probably benign	Het
Cep128	A	T	12: 91,315,555 (GRCm39)	S110R	probably damaging	Het
Cfap43	A	T	19: 47,752,291 (GRCm39)		probably null	Het
Cfap58	T	C	19: 47,971,969 (GRCm39)	I633T	probably damaging	Het
Clvs1	A	G	4: 9,281,814 (GRCm39)	H86R	probably benign	Het
Comt	T	C	16: 18,230,565 (GRCm39)	K48R	probably benign	Het
Crip2	T	C	12: 113,108,586 (GRCm39)	V64A	possibly damaging	Het
Cstdc5	T	A	16: 36,187,863 (GRCm39)	M1L	probably damaging	Het
Cwf19l2	T	A	9: 3,456,760 (GRCm39)	S698T	probably damaging	Het
Dis3l	T	C	9: 64,214,771 (GRCm39)	I933V	probably benign	Het
Dnah8	C	A	17: 30,966,221 (GRCm39)	N2470K	probably damaging	Het
Dstn	T	C	2: 143,780,408 (GRCm39)	V36A	possibly damaging	Het
Dtx1	T	A	5: 120,848,411 (GRCm39)		probably benign	Het
Dzip1	G	A	14: 119,116,890 (GRCm39)	S782L	probably damaging	Het
Ece1	T	A	4: 137,675,971 (GRCm39)		probably null	Het
Erich1	A	G	8: 14,080,688 (GRCm39)	I277T	probably damaging	Het
Gbp4	T	A	5: 105,266,275 (GRCm39)	M589L	probably benign	Het
Grip1	T	C	10: 119,836,448 (GRCm39)	I440T	probably damaging	Het
Helz	C	T	11: 107,560,874 (GRCm39)	S1311L	probably benign	Het
Herc2	A	T	7: 55,785,405 (GRCm39)	I1552F	probably damaging	Het
Kif13a	T	C	13: 46,962,689 (GRCm39)	T459A	probably benign	Het
Knop1	G	A	7: 118,455,009 (GRCm39)		probably benign	Het
Llgl2	C	A	11: 115,743,947 (GRCm39)	T758K	probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc71	T	C	3: 87,649,148 (GRCm39)	D340G	possibly damaging	Het
Luzp1	A	G	4: 136,270,636 (GRCm39)	D953G	probably damaging	Het
Mst1r	T	C	9: 107,794,562 (GRCm39)	V1247A	probably damaging	Het
Ncoa4	A	T	14: 31,898,845 (GRCm39)	K555M	probably damaging	Het
Ncoa6	A	T	2: 155,257,224 (GRCm39)	L773Q	probably benign	Het
Ndc1	C	T	4: 107,228,485 (GRCm39)	Q70*	probably null	Het
Nfe2l3	C	T	6: 51,434,585 (GRCm39)	L382F	probably damaging	Het
Nlrp4b	C	A	7: 10,458,979 (GRCm39)	T399N	possibly damaging	Het
Nsmce2	T	A	15: 59,473,234 (GRCm39)	D250E	probably damaging	Het
Nudt14	A	T	12: 112,898,548 (GRCm39)	L184Q	probably damaging	Het
Ogdhl	G	A	14: 32,062,624 (GRCm39)	R570H	possibly damaging	Het
Or5p56	T	C	7: 107,590,048 (GRCm39)	F159L	probably benign	Het
Pira13	T	C	7: 3,819,988 (GRCm39)	D525G	probably damaging	Het
Plag1	A	G	4: 3,904,085 (GRCm39)	S369P	probably benign	Het
Ranbp2	A	T	10: 58,318,916 (GRCm39)	T2476S	possibly damaging	Het
Rnmt	T	C	18: 68,440,853 (GRCm39)	L172P	probably damaging	Het
Sec24a	T	A	11: 51,634,623 (GRCm39)	H101L	probably benign	Het
Sirpd	T	A	3: 15,385,744 (GRCm39)	T53S	possibly damaging	Het
Srp54b	A	G	12: 55,302,844 (GRCm39)	D380G	probably benign	Het
Svs5	C	T	2: 164,078,929 (GRCm39)	R326Q	possibly damaging	Het
Tent4b	T	C	8: 88,972,227 (GRCm39)	V222A	probably damaging	Het
Tfap2b	C	T	1: 19,304,294 (GRCm39)	T350M	probably damaging	Het
Tie1	A	T	4: 118,341,070 (GRCm39)	C304S	probably damaging	Het
Tsc2	G	T	17: 24,850,950 (GRCm39)	T36N	probably damaging	Het
Wdhd1	A	T	14: 47,505,649 (GRCm39)	Y274*	probably null	Het
Wdr37	T	C	13: 8,870,574 (GRCm39)	T373A	probably benign	Het
Xirp2	A	T	2: 67,342,634 (GRCm39)	N1625I	possibly damaging	Het
Ythdf1	A	C	2: 180,560,936 (GRCm39)	S35A	probably damaging	Het
Zfp462	A	G	4: 55,008,928 (GRCm39)	N298S	possibly damaging	Het
Zfp541	T	A	7: 15,812,437 (GRCm39)	D363E	probably benign	Het
Zgpat	A	G	2: 181,020,658 (GRCm39)	D277G	probably benign	Het
Znfx1	A	T	2: 166,898,110 (GRCm39)	N271K	probably damaging	Het

Other mutations in Srm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02708:Srm	APN	4	148,677,803 (GRCm39)	missense	probably benign	0.28
IGL02961:Srm	APN	4	148,678,586 (GRCm39)	missense	possibly damaging	0.73
IGL03085:Srm	APN	4	148,677,838 (GRCm39)	missense	probably damaging	0.97
R0233:Srm	UTSW	4	148,677,829 (GRCm39)	missense	probably damaging	1.00
R0233:Srm	UTSW	4	148,677,829 (GRCm39)	missense	probably damaging	1.00
R2040:Srm	UTSW	4	148,678,453 (GRCm39)	missense	possibly damaging	0.61
R2155:Srm	UTSW	4	148,676,948 (GRCm39)	missense	probably benign	0.28
R2519:Srm	UTSW	4	148,675,961 (GRCm39)	splice site	probably null
R4965:Srm	UTSW	4	148,678,640 (GRCm39)	missense	possibly damaging	0.51
R5497:Srm	UTSW	4	148,678,566 (GRCm39)	missense	probably benign	0.00
R7803:Srm	UTSW	4	148,678,402 (GRCm39)	missense	probably damaging	1.00
R9632:Srm	UTSW	4	148,676,039 (GRCm39)	start gained	probably benign
R9710:Srm	UTSW	4	148,676,039 (GRCm39)	start gained	probably benign
R9722:Srm	UTSW	4	148,676,245 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCATGACATGATGAGGCCAGAC -3'
(R):5'- CTGGGAGGCCCTGCATTCAAAC -3'

Sequencing Primer
(F):5'- ccagacagggataaaagatatggag -3'
(R):5'- CCATAGCACACCCGGATG -3'

Posted On

2014-04-13