Mutagenetix > Incidental Mutation

Incidental Mutation 'R9722:Srm'

730841

Institutional Source

Beutler Lab

Gene Symbol

Srm

Ensembl Gene

ENSMUSG00000006442

Gene Name

spermidine synthase

Synonyms

SpdSy, SpdST

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.611) question?

Stock #

R9722 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148675970-148679076 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 148676245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000006611 (fasta)

Gene Model

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

AlphaFold

Q64674

Predicted Effect

probably null
Transcript: ENSMUST00000006611

SMART Domains

Protein: ENSMUSP00000006611
Gene: ENSMUSG00000006442

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,269 (GRCm39)	I52F	probably benign	Het
Abcc3	A	T	11: 94,250,072 (GRCm39)	L1017Q	probably damaging	Het
Antxr2	T	C	5: 98,096,186 (GRCm39)	D366G	possibly damaging	Het
Astn2	C	T	4: 65,831,978 (GRCm39)	V563I	probably benign	Het
Atrn	C	A	2: 130,803,536 (GRCm39)	D575E	probably damaging	Het
Baz1a	C	T	12: 54,946,882 (GRCm39)	D1228N	probably benign	Het
Canx	A	G	11: 50,195,301 (GRCm39)	S256P	probably benign	Het
Ccnt2	T	A	1: 127,729,925 (GRCm39)	D267E	probably damaging	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Cyfip2	T	C	11: 46,087,135 (GRCm39)	T1252A	probably benign	Het
Dchs2	A	G	3: 83,261,301 (GRCm39)	Y2523C	probably benign	Het
Dmxl2	G	A	9: 54,323,892 (GRCm39)	P990L	probably benign	Het
Dnajc9	T	C	14: 20,438,279 (GRCm39)	I108V	probably benign	Het
Eif2d	T	C	1: 131,092,948 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,384,768 (GRCm39)	D881G	probably damaging	Het
Esr1	A	G	10: 4,951,215 (GRCm39)	N531S	probably benign	Het
Fbxo2	G	A	4: 148,248,883 (GRCm39)	R125H	probably damaging	Het
Foxred1	C	T	9: 35,117,300 (GRCm39)	S277N	possibly damaging	Het
Gemin5	T	C	11: 58,041,418 (GRCm39)	E518G	probably damaging	Het
Gm17655	A	G	5: 110,194,226 (GRCm39)	Y519H	probably benign	Het
Igkv4-57-1	A	T	6: 69,521,493 (GRCm39)	W70R	probably damaging	Het
Krtap4-13	A	G	11: 99,700,180 (GRCm39)	S160P	unknown	Het
Map3k3	A	G	11: 106,033,361 (GRCm39)	I205V	possibly damaging	Het
Map3k4	A	C	17: 12,490,523 (GRCm39)	F303V	probably benign	Het
Mpdz	T	C	4: 81,304,504 (GRCm39)	Q132R	probably damaging	Het
Myo10	T	A	15: 25,801,227 (GRCm39)	V1472E	probably damaging	Het
Nckap1	G	A	2: 80,401,568 (GRCm39)	Q39*	probably null	Het
Nog	A	G	11: 89,192,396 (GRCm39)	S151P	probably damaging	Het
Obox6	G	A	7: 15,568,831 (GRCm39)	S15F	probably benign	Het
Odf2	A	G	2: 29,813,594 (GRCm39)	H647R	possibly damaging	Het
Or6c74	A	G	10: 129,869,500 (GRCm39)	R2G	probably benign	Het
Pcdhga11	T	C	18: 37,890,398 (GRCm39)	S469P	possibly damaging	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pglyrp3	A	G	3: 91,938,695 (GRCm39)	K290R	possibly damaging	Het
Phactr3	G	A	2: 177,898,043 (GRCm39)	E86K	probably damaging	Het
Piezo1	A	C	8: 123,225,497 (GRCm39)	L530R		Het
Pigg	A	T	5: 108,495,767 (GRCm39)	I935F	possibly damaging	Het
Pofut2	T	C	10: 77,102,759 (GRCm39)	S282P	possibly damaging	Het
Ppfia1	A	G	7: 144,071,402 (GRCm39)	S337P	probably benign	Het
Sdr16c5	A	T	4: 4,005,595 (GRCm39)	D246E	probably benign	Het
Sgsm1	T	A	5: 113,428,207 (GRCm39)	H327L	possibly damaging	Het
Slc39a4	A	G	15: 76,500,211 (GRCm39)	I113T	possibly damaging	Het
Slc5a7	A	G	17: 54,603,985 (GRCm39)		probably null	Het
Snx11	A	G	11: 96,661,925 (GRCm39)	S86P	probably benign	Het
Tas2r126	T	C	6: 42,412,082 (GRCm39)	I205T	possibly damaging	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Tenm3	A	T	8: 48,753,849 (GRCm39)	S851R	probably benign	Het
Tnip2	A	G	5: 34,654,212 (GRCm39)	V288A	probably benign	Het
Tpx2	T	A	2: 152,733,476 (GRCm39)		probably null	Het
Trim33	C	A	3: 103,261,146 (GRCm39)	T1115K	possibly damaging	Het
Tspan13	T	A	12: 36,074,017 (GRCm39)	I40F	probably damaging	Het
Ube2v2	T	C	16: 15,394,899 (GRCm39)	I91V	probably benign	Het
Vmn1r22	A	T	6: 57,877,631 (GRCm39)	F115L	probably benign	Het
Vmn2r7	G	A	3: 64,598,407 (GRCm39)	P717S	probably damaging	Het
Zan	T	C	5: 137,387,324 (GRCm39)	T4910A	unknown	Het
Zfp599	T	A	9: 22,160,741 (GRCm39)	T475S	probably damaging	Het
Zfp638	T	A	6: 83,923,301 (GRCm39)	F700I	probably damaging	Het
Zfp985	A	C	4: 147,667,618 (GRCm39)	K162T	possibly 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
R1541:Srm	UTSW	4	148,677,881 (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

Predicted Primers

PCR Primer
(F):5'- CCAATGAACTCCTGGTGAAGC -3'
(R):5'- TTTACTGCGGGCAGAGACAG -3'

Sequencing Primer
(F):5'- CAGAGCTGGTCACGTTGTGC -3'
(R):5'- ACACTGGGAGGTTAGGTCC -3'

Posted On

2022-10-06