Mutagenetix > Incidental Mutation

Incidental Mutation 'R9363:Sun5'

708777

Institutional Source

Beutler Lab

Gene Symbol

Sun5

Ensembl Gene

ENSMUSG00000027480

Gene Name

Sad1 and UNC84 domain containing 5

Synonyms

Spag4l, 1700021O15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9363 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153698108-153713004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153700365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 294 (I294T)

Ref Sequence

ENSEMBL: ENSMUSP00000028982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028982]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028982
AA Change: I294T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000028982
Gene: ENSMUSG00000027480
AA Change: I294T

Domain	Start	End	E-Value	Type
Pfam:Sad1_UNC	204	336	8.9e-43	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,438,575 (GRCm39)		probably null	Het
Alkbh1	A	T	12: 87,487,080 (GRCm39)	Y96*	probably null	Het
Alkbh8	T	A	9: 3,385,576 (GRCm39)	C658S	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Blm	T	C	7: 80,108,663 (GRCm39)	Y1327C	probably damaging	Het
Ccdc28a	C	T	10: 18,094,050 (GRCm39)	D190N	unknown	Het
Chdh	A	G	14: 29,753,310 (GRCm39)	E73G	probably damaging	Het
Dab2	C	T	15: 6,460,481 (GRCm39)	P463L	probably benign	Het
Dcun1d2	A	G	8: 13,309,014 (GRCm39)	Y184H	probably benign	Het
Dst	T	C	1: 34,235,060 (GRCm39)	L3535P	probably damaging	Het
Egr3	A	G	14: 70,316,761 (GRCm39)	I153V	possibly damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Hcfc2	C	T	10: 82,574,258 (GRCm39)	P144L	probably damaging	Het
Jkampl	T	A	6: 73,446,487 (GRCm39)	I21F	possibly damaging	Het
Mdc1	C	A	17: 36,162,019 (GRCm39)	Q942K	probably benign	Het
Med15	C	T	16: 17,489,414 (GRCm39)	V387I	unknown	Het
Muc4	C	T	16: 32,576,992 (GRCm39)	S94L		Het
Or5ak23	T	A	2: 85,244,993 (GRCm39)	I77F	probably damaging	Het
Otud3	G	T	4: 138,623,133 (GRCm39)	N369K	probably benign	Het
Parp14	C	T	16: 35,678,586 (GRCm39)	E461K	possibly damaging	Het
Paxbp1	T	A	16: 90,827,395 (GRCm39)	Q480L	probably damaging	Het
Polr3a	G	A	14: 24,500,831 (GRCm39)	A1319V	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prkg2	A	T	5: 99,172,257 (GRCm39)	S153T	probably benign	Het
Scara3	T	C	14: 66,168,720 (GRCm39)	D299G	probably benign	Het
Scube1	C	A	15: 83,499,080 (GRCm39)	E712*	probably null	Het
Setd4	T	A	16: 93,388,009 (GRCm39)	E159V	probably benign	Het
Slc15a2	T	A	16: 36,572,672 (GRCm39)	I670F	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Snx18	G	A	13: 113,754,732 (GRCm39)	P67L	probably benign	Het
St3gal5	A	T	6: 72,119,301 (GRCm39)	K165*	probably null	Het
Svil	A	G	18: 5,037,155 (GRCm39)	K37E	probably benign	Het
Tmem104	T	C	11: 115,134,691 (GRCm39)	I409T	probably benign	Het
Tnxb	T	C	17: 34,917,294 (GRCm39)	Y2230H	possibly damaging	Het
Trps1	A	G	15: 50,524,676 (GRCm39)	S1085P	probably damaging	Het
Ttn	A	T	2: 76,612,592 (GRCm39)	N17162K	probably damaging	Het
Ugt1a7c	T	A	1: 88,023,616 (GRCm39)	F258L	probably damaging	Het
Vmn2r102	C	T	17: 19,897,614 (GRCm39)	H210Y	probably benign	Het
Vmn2r75	A	T	7: 85,815,423 (GRCm39)	V147E	probably benign	Het
Zhx3	G	A	2: 160,621,785 (GRCm39)	A794V	probably benign	Het
Zscan2	A	G	7: 80,525,331 (GRCm39)	T351A	probably benign	Het

Other mutations in Sun5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03404:Sun5	APN	2	153,712,924 (GRCm39)	unclassified	probably benign
R0384:Sun5	UTSW	2	153,700,885 (GRCm39)	missense	probably benign	0.43
R0442:Sun5	UTSW	2	153,712,872 (GRCm39)	missense	possibly damaging	0.93
R0505:Sun5	UTSW	2	153,712,872 (GRCm39)	missense	probably damaging	1.00
R0666:Sun5	UTSW	2	153,700,968 (GRCm39)	missense	possibly damaging	0.93
R1889:Sun5	UTSW	2	153,707,915 (GRCm39)	missense	probably benign	0.11
R2341:Sun5	UTSW	2	153,709,422 (GRCm39)	splice site	probably benign
R3711:Sun5	UTSW	2	153,709,468 (GRCm39)	missense	probably benign	0.00
R4751:Sun5	UTSW	2	153,707,936 (GRCm39)	splice site	probably null
R4762:Sun5	UTSW	2	153,707,283 (GRCm39)	nonsense	probably null
R4821:Sun5	UTSW	2	153,711,386 (GRCm39)	missense	probably benign
R6018:Sun5	UTSW	2	153,700,363 (GRCm39)	missense	probably damaging	1.00
R6248:Sun5	UTSW	2	153,702,589 (GRCm39)	missense	probably damaging	1.00
R8178:Sun5	UTSW	2	153,698,131 (GRCm39)	splice site	probably null
R8273:Sun5	UTSW	2	153,707,243 (GRCm39)	missense	possibly damaging	0.86
R9285:Sun5	UTSW	2	153,709,426 (GRCm39)	splice site	probably benign
R9728:Sun5	UTSW	2	153,709,466 (GRCm39)	missense	probably benign	0.00
X0023:Sun5	UTSW	2	153,712,884 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAGGAAAGACTAGCTGGGGTC -3'
(R):5'- TGTAGACCCCAGCTTCTGACTC -3'

Sequencing Primer
(F):5'- GGCTTTCCCTGGGTGCTAC -3'
(R):5'- TTCTGACTCCCAGGGCCATG -3'

Posted On

2022-04-18