Mutagenetix > Incidental Mutation

Incidental Mutation 'R7803:Srm'

600597

Institutional Source

Beutler Lab

Gene Symbol

Srm

Ensembl Gene

ENSMUSG00000006442

Gene Name

spermidine synthase

Synonyms

SpdSy, SpdST

MMRRC Submission

045858-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.617) question?

Stock #

R7803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148675970-148679076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148678402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 238 (I238T)

Ref Sequence

ENSEMBL: ENSMUSP00000006611 (fasta)

Gene Model

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

AlphaFold

Q64674

Predicted Effect

probably damaging
Transcript: ENSMUST00000006611
AA Change: I238T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000006611
Gene: ENSMUSG00000006442
AA Change: I238T

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (49/50)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	A	19: 34,220,818 (GRCm39)	A297S	probably benign	Het
Ada	A	G	2: 163,577,288 (GRCm39)	Y67H	probably benign	Het
Adcy9	A	G	16: 4,122,244 (GRCm39)	I839T	probably benign	Het
Arg1	C	T	10: 24,792,689 (GRCm39)	V182I	possibly damaging	Het
Cbx7	G	A	15: 79,818,024 (GRCm39)	T26M	unknown	Het
Ceacam5	A	G	7: 17,493,317 (GRCm39)	Y780C	probably damaging	Het
Ces2h	A	G	8: 105,745,032 (GRCm39)	M389V	probably benign	Het
Chst11	A	T	10: 83,027,020 (GRCm39)	E149V	possibly damaging	Het
Clstn1	T	C	4: 149,716,328 (GRCm39)	W265R	probably damaging	Het
Col4a4	A	G	1: 82,467,419 (GRCm39)		probably null	Het
Csrp3	T	G	7: 48,483,545 (GRCm39)	K119T	probably benign	Het
Ddx39a	T	C	8: 84,446,229 (GRCm39)		probably null	Het
Ddx41	A	G	13: 55,679,734 (GRCm39)	I437T	probably damaging	Het
Eif1ad4	T	A	12: 87,862,269 (GRCm39)	C44S	probably benign	Het
Fbln5	A	T	12: 101,728,077 (GRCm39)	D282E	probably damaging	Het
Folh1	G	A	7: 86,375,306 (GRCm39)	T527I	probably damaging	Het
Gch1	T	A	14: 47,426,418 (GRCm39)	T103S	probably benign	Het
Gpr149	A	G	3: 62,438,136 (GRCm39)	S674P	probably damaging	Het
Hecw1	G	T	13: 14,408,927 (GRCm39)	R1127S	probably benign	Het
Hmcn1	A	T	1: 150,646,030 (GRCm39)	C723S	probably benign	Het
Impg2	T	C	16: 56,087,513 (GRCm39)	S1111P	probably damaging	Het
Insl3	T	C	8: 72,141,984 (GRCm39)	L28P	probably damaging	Het
Kifc1	T	C	17: 34,103,714 (GRCm39)	D203G	probably benign	Het
Kmt2d	A	T	15: 98,760,804 (GRCm39)	S849T	unknown	Het
Krt33b	A	G	11: 99,916,084 (GRCm39)		probably null	Het
Lpin3	A	G	2: 160,737,310 (GRCm39)	D119G	possibly damaging	Het
Maml2	AGC	AGCCGC	9: 13,532,550 (GRCm39)		probably benign	Het
Maml2	AGC	AGCCGC	9: 13,532,571 (GRCm39)		probably benign	Het
Maml2	GCA	GCACCA	9: 13,532,572 (GRCm39)		probably benign	Het
Nsun7	T	A	5: 66,433,884 (GRCm39)	L178*	probably null	Het
Or6c1b	A	G	10: 129,272,800 (GRCm39)	N40D	probably damaging	Het
Or6c205	A	T	10: 129,086,864 (GRCm39)	I154F	probably benign	Het
Or8g55	A	T	9: 39,785,378 (GRCm39)	D269V	probably benign	Het
Orc6	T	A	8: 86,030,037 (GRCm39)	S136T	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Plxnc1	A	G	10: 94,779,377 (GRCm39)		probably null	Het
Prkdc	G	A	16: 15,623,960 (GRCm39)	D3308N	probably null	Het
Rtkn2	G	A	10: 67,815,643 (GRCm39)		probably null	Het
Sele	T	C	1: 163,878,263 (GRCm39)	S201P	possibly damaging	Het
Shq1	A	G	6: 100,648,006 (GRCm39)	F6S	probably damaging	Het
Sparc	A	T	11: 55,300,797 (GRCm39)	I5N	probably damaging	Het
Spata31e3	A	G	13: 50,400,226 (GRCm39)	V700A	probably benign	Het
Stx2	C	A	5: 129,070,627 (GRCm39)	E97*	probably null	Het
Sugp2	C	T	8: 70,704,722 (GRCm39)	P753L	probably benign	Het
Tenm2	A	T	11: 35,937,943 (GRCm39)	S1578T	probably damaging	Het
Tff3	T	C	17: 31,348,544 (GRCm39)	T3A	probably benign	Het
Tmem38a	C	T	8: 73,325,964 (GRCm39)	A6V	probably benign	Het
Trbv16	G	A	6: 41,128,929 (GRCm39)	A38T	not run	Het
Trim30a	G	A	7: 104,060,604 (GRCm39)	Q391*	probably null	Het
Ttn	T	G	2: 76,606,715 (GRCm39)	Y18065S	probably damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Vmn2r24	T	A	6: 123,757,438 (GRCm39)	M102K	probably benign	Het
Vmn2r69	G	T	7: 85,056,324 (GRCm39)	H605N	probably benign	Het
Washc1	T	A	17: 66,426,055 (GRCm39)	M451K	possibly damaging	Het
Washc3	G	T	10: 88,051,937 (GRCm39)		probably null	Het
Washc5	A	T	15: 59,240,308 (GRCm39)	Y112N	probably damaging	Het
Zbtb40	T	A	4: 136,744,638 (GRCm39)	T261S	probably benign	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
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'- TTTGCCACTGAGCTGCTGTG -3'
(R):5'- CTGTGTCAACTGCTGCACTG -3'

Sequencing Primer
(F):5'- AGGATGGCCATGCTCTACC -3'
(R):5'- AACTGCTGCACTGGCTCC -3'

Posted On

2019-11-26