Mutagenetix > Incidental Mutation

Incidental Mutation 'R9391:Smyd5'

710589

Institutional Source

Beutler Lab

Gene Symbol

Smyd5

Ensembl Gene

ENSMUSG00000033706

Gene Name

SET and MYND domain containing 5

Synonyms

Rrg1, NN8-4AG, Rai15

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9391 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85408971-85423417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85418739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 241 (F241S)

Ref Sequence

ENSEMBL: ENSMUSP00000048537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045693]

AlphaFold

Q3TYX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000045693
AA Change: F241S

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

SMART Domains

Protein: ENSMUSP00000048537
Gene: ENSMUSG00000033706
AA Change: F241S

Domain	Start	End	E-Value	Type
SET	21	357	8.15e-14	SMART
low complexity region	392	412	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,178,542 (GRCm39)	T1144A	probably benign	Het
Adam32	C	T	8: 25,374,472 (GRCm39)	E507K	probably damaging	Het
Adgrf3	T	C	5: 30,400,071 (GRCm39)	E974G	possibly damaging	Het
Agbl1	A	G	7: 76,071,602 (GRCm39)	E560G	unknown	Het
Ank2	A	T	3: 126,731,394 (GRCm39)	H671Q	probably damaging	Het
Asic5	C	T	3: 81,928,366 (GRCm39)	T485M	probably benign	Het
Bco2	T	C	9: 50,446,022 (GRCm39)		probably null	Het
C1qtnf6	A	G	15: 78,415,516 (GRCm39)	C23R	unknown	Het
Ccdc18	T	C	5: 108,376,770 (GRCm39)	F1404L	probably benign	Het
Cfap46	A	T	7: 139,198,027 (GRCm39)	I2107N	unknown	Het
Cfap97d1	G	T	11: 101,881,655 (GRCm39)	R117I	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cpb2	A	C	14: 75,508,136 (GRCm39)	Q199P	probably damaging	Het
Dnah7b	T	A	1: 46,272,914 (GRCm39)	Y2347*	probably null	Het
Dyrk1a	T	A	16: 94,460,373 (GRCm39)	C10S	possibly damaging	Het
F2r	A	T	13: 95,740,656 (GRCm39)	V293D	probably damaging	Het
Gm28363	G	A	1: 117,626,629 (GRCm39)	W22*	probably null	Het
Hira	T	C	16: 18,767,892 (GRCm39)	S696P	possibly damaging	Het
Klhl2	A	G	8: 65,275,684 (GRCm39)	V73A	probably damaging	Het
Lalba	A	T	15: 98,380,417 (GRCm39)	W46R	probably damaging	Het
Map3k13	C	A	16: 21,740,665 (GRCm39)	T664N	probably benign	Het
Ncor1	T	A	11: 62,216,376 (GRCm39)	K1166*	probably null	Het
Npdc1	T	A	2: 25,297,979 (GRCm39)	M176K	possibly damaging	Het
Obscn	A	G	11: 58,964,408 (GRCm39)	S3045P	probably damaging	Het
Or13a20	G	A	7: 140,232,272 (GRCm39)	A127T	probably damaging	Het
Plekhg4	G	C	8: 106,106,043 (GRCm39)	K813N	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prdm12	G	A	2: 31,544,162 (GRCm39)	R255H	probably benign	Het
Rbbp8	T	C	18: 11,854,990 (GRCm39)	I405T	possibly damaging	Het
Sctr	A	G	1: 119,983,178 (GRCm39)	T328A	probably benign	Het
Sec63	T	A	10: 42,681,101 (GRCm39)	S362T	probably benign	Het
Sgsm2	A	G	11: 74,744,630 (GRCm39)	L818P	probably damaging	Het
Shprh	G	A	10: 11,038,633 (GRCm39)	V463I	probably benign	Het
Tax1bp1	T	A	6: 52,735,220 (GRCm39)	Y680*	probably null	Het
Tbc1d17	A	G	7: 44,494,683 (GRCm39)	S212P	probably damaging	Het
Tle1	A	T	4: 72,116,159 (GRCm39)	V62E	probably damaging	Het
Tnfaip3	G	T	10: 18,883,075 (GRCm39)	N163K	probably damaging	Het
Trim8	T	A	19: 46,503,955 (GRCm39)	Y502*	probably null	Het
Trip12	A	T	1: 84,773,473 (GRCm39)	F54L	probably benign	Het
Trpc2	T	A	7: 101,745,067 (GRCm39)	L761Q	probably damaging	Het
Vps41	A	T	13: 18,994,616 (GRCm39)	E154D	probably benign	Het

Other mutations in Smyd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03065:Smyd5	APN	6	85,419,146 (GRCm39)	missense	possibly damaging	0.75
IGL03261:Smyd5	APN	6	85,409,000 (GRCm39)	missense	probably benign	0.05
R0383:Smyd5	UTSW	6	85,417,155 (GRCm39)	nonsense	probably null
R1957:Smyd5	UTSW	6	85,415,121 (GRCm39)	missense	probably benign	0.01
R1988:Smyd5	UTSW	6	85,415,118 (GRCm39)	missense	possibly damaging	0.93
R2049:Smyd5	UTSW	6	85,421,300 (GRCm39)	missense	probably benign	0.01
R3499:Smyd5	UTSW	6	85,415,172 (GRCm39)	missense	probably damaging	1.00
R3552:Smyd5	UTSW	6	85,419,193 (GRCm39)	missense	probably damaging	0.99
R5092:Smyd5	UTSW	6	85,422,185 (GRCm39)	unclassified	probably benign
R6114:Smyd5	UTSW	6	85,417,244 (GRCm39)	intron	probably benign
R6581:Smyd5	UTSW	6	85,409,005 (GRCm39)	missense	probably damaging	0.99
R7191:Smyd5	UTSW	6	85,417,093 (GRCm39)	missense	probably benign	0.10
R7868:Smyd5	UTSW	6	85,421,297 (GRCm39)	missense	probably damaging	1.00
R8995:Smyd5	UTSW	6	85,415,829 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCTGCTTGGGCTCTTCAAAG -3'
(R):5'- AGAGCAAGATTCCCAGCAGC -3'

Sequencing Primer
(F):5'- CTCTTCAAAGAGGCCCTTTATGAAG -3'
(R):5'- CATTCCTCGAACCCAGGTCATG -3'

Posted On

2022-04-18