Mutagenetix > Incidental Mutation

Incidental Mutation 'R9454:Sun3'

714482

Institutional Source

Beutler Lab

Gene Symbol

Sun3

Ensembl Gene

ENSMUSG00000040985

Gene Name

Sad1 and UNC84 domain containing 3

Synonyms

Sunc1, D630047F21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R9454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9016054-9048991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9038281 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 14 (F14L)

Ref Sequence

ENSEMBL: ENSMUSP00000045199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043377] [ENSMUST00000102909]

AlphaFold

Q5SS91

Predicted Effect

probably benign
Transcript: ENSMUST00000043377
AA Change: F14L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: F14L

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Sad1_UNC	182	316	3.4e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102909

SMART Domains

Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985

Domain	Start	End	E-Value	Type
Pfam:Sad1_UNC	122	256	3.2e-48	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	T	18: 61,818,996	H431Q	possibly damaging	Het
Adam25	A	T	8: 40,754,449	I251F	probably damaging	Het
Ankrd31	A	T	13: 96,780,334	T119S	probably damaging	Het
Ankrd31	T	C	13: 96,780,338	V120A	possibly damaging	Het
Anks6	T	C	4: 47,016,789	E809G	possibly damaging	Het
Arhgap21	A	T	2: 20,865,342	S928T	probably damaging	Het
Arhgef10l	G	T	4: 140,580,925	S39*	probably null	Het
Aspm	G	A	1: 139,480,994	E2540K	probably benign	Het
Atp10a	T	C	7: 58,658,591	I46T	probably benign	Het
Atp13a5	C	A	16: 29,314,520	V483L	possibly damaging	Het
BC028528	T	C	3: 95,889,770	D29G	possibly damaging	Het
Ccdc187	T	A	2: 26,276,102	T772S	possibly damaging	Het
Ccnh	G	A	13: 85,202,402	A199T	probably benign	Het
Cfap65	A	T	1: 74,905,051	Y1504N	probably damaging	Het
Ckap2	C	A	8: 22,175,883	E383*	probably null	Het
Clec4n	T	C	6: 123,235,573	V116A	possibly damaging	Het
Cmc2	G	T	8: 116,889,811	D58E	unknown	Het
Cntn6	A	G	6: 104,804,347	K465E	possibly damaging	Het
Col6a6	G	A	9: 105,783,860	A350V	probably damaging	Het
Cps1	A	G	1: 67,180,152	I884V	probably damaging	Het
E2f7	C	T	10: 110,784,681	A853V	probably benign	Het
E330034G19Rik	A	T	14: 24,296,792	Q114L	unknown	Het
Egfr	G	T	11: 16,887,155	G632V	probably damaging	Het
Fam98b	T	C	2: 117,249,769	M1T	probably null	Het
Fcgr2b	T	A	1: 170,961,088	I317F	probably damaging	Het
Galntl6	T	C	8: 57,958,401	D265G	probably damaging	Het
Gm35911	C	T	5: 99,923,093	P76S	probably damaging	Het
Gm4922	A	G	10: 18,784,581	L131P	probably damaging	Het
H1fnt	T	C	15: 98,256,942	I109V	probably benign	Het
H2-Q1	A	T	17: 35,321,373	I145F	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Ica1	A	T	6: 8,667,288	S293T	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Magi2	G	T	5: 20,466,178	V507F	probably damaging	Het
Malrd1	T	C	2: 15,752,849	I978T	unknown	Het
Malrd1	G	A	2: 15,797,726	W1083*	probably null	Het
Mgarp	T	C	3: 51,396,481	T10A	probably damaging	Het
Mtnr1a	A	G	8: 45,085,575	I17V		Het
Muc5ac	C	T	7: 141,808,694	T1914I	unknown	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Nav3	T	C	10: 110,000,003	T73A	probably benign	Het
Olfr1053	A	T	2: 86,314,834	Y151N	probably damaging	Het
Olfr1270	A	C	2: 90,149,476	C177G	probably damaging	Het
Pclo	T	A	5: 14,712,438	S357T	probably benign	Het
Pkdrej	T	A	15: 85,818,219	N1172I	probably benign	Het
Psmb9	G	A	17: 34,183,104	R173C	probably benign	Het
Ralgapb	T	A	2: 158,473,152	H1146Q	probably benign	Het
Raph1	T	A	1: 60,489,594	Q836L	unknown	Het
Rcc1	A	G	4: 132,334,763	S280P	probably damaging	Het
Recql	T	C	6: 142,374,891	M144V	possibly damaging	Het
Rela	T	C	19: 5,645,340	I298T	probably damaging	Het
Rfc1	T	A	5: 65,274,431	I792F		Het
Rnf31	A	G	14: 55,596,152	E539G		Het
Rrp9	T	C	9: 106,483,641	S274P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923		probably benign	Het
Scmh1	A	G	4: 120,515,079	I360V	probably benign	Het
Sh3yl1	T	C	12: 30,940,421		probably null	Het
Shisa9	T	C	16: 11,984,659	S27P	probably benign	Het
Slc17a4	A	G	13: 23,901,927	V359A	probably benign	Het
Slfn5	C	A	11: 82,960,059	A394E	probably benign	Het
Surf1	A	T	2: 26,914,796	D148E	possibly damaging	Het
Syne2	A	G	12: 76,020,501	K4325E	probably damaging	Het
Syne2	A	T	12: 76,095,070	K1388*	probably null	Het
Tacr1	A	G	6: 82,554,872	M250V	probably damaging	Het
Tenm2	T	C	11: 36,221,459	T420A	probably benign	Het
Tm7sf3	C	A	6: 146,618,543	A282S	probably benign	Het
Tmf1	T	C	6: 97,178,905	E40G	probably benign	Het
Tnfrsf12a	A	G	17: 23,676,517		probably null	Het
Ttc30a2	T	A	2: 75,976,468	I567F	probably benign	Het
Unc80	C	A	1: 66,695,590	H3325Q	possibly damaging	Het
Zfp142	A	G	1: 74,569,857	L1593S	probably damaging	Het
Zfp869	T	A	8: 69,706,591	Y444F	probably benign	Het
Zscan10	G	A	17: 23,607,645		probably null	Het

Other mutations in Sun3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Sun3	APN	11	9023341	missense	possibly damaging	0.91
IGL01473:Sun3	APN	11	9029394	missense	probably benign	0.00
IGL01578:Sun3	APN	11	9029436	missense	probably damaging	0.98
IGL03340:Sun3	APN	11	9023285	splice site	probably benign
R1944:Sun3	UTSW	11	9038296	missense	probably benign	0.00
R1945:Sun3	UTSW	11	9038296	missense	probably benign	0.00
R2233:Sun3	UTSW	11	9023371	nonsense	probably null
R4356:Sun3	UTSW	11	9016328	missense	probably damaging	1.00
R4784:Sun3	UTSW	11	9038266	missense	probably benign	0.00
R4785:Sun3	UTSW	11	9038266	missense	probably benign	0.00
R4975:Sun3	UTSW	11	9038311	nonsense	probably null
R5022:Sun3	UTSW	11	9038314	missense	probably damaging	0.96
R5134:Sun3	UTSW	11	9038287	missense	probably benign	0.04
R5163:Sun3	UTSW	11	9023295	missense	possibly damaging	0.89
R5358:Sun3	UTSW	11	9031496	missense	possibly damaging	0.90
R5668:Sun3	UTSW	11	9031433	critical splice donor site	probably null
R6621:Sun3	UTSW	11	9016242	missense	probably damaging	1.00
R7442:Sun3	UTSW	11	9031445	missense	possibly damaging	0.75
R8022:Sun3	UTSW	11	9023376	missense	probably damaging	1.00
R8134:Sun3	UTSW	11	9029346	missense	probably benign	0.00
R9130:Sun3	UTSW	11	9018170	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCTTAATGTCTGTGAAACTTCTGTG -3'
(R):5'- CATAGAATTAATCTGGAGCAGCC -3'

Sequencing Primer
(F):5'- AGGATCTCACAGTTGTTAGGGGAG -3'
(R):5'- CAGCCAGGAGTGAGACAAATC -3'

Posted On

2022-06-15