Mutagenetix > Incidental Mutation

Incidental Mutation 'R9797:Slc35e3'

735005

Institutional Source

Beutler Lab

Gene Symbol

Slc35e3

Ensembl Gene

ENSMUSG00000060181

Gene Name

solute carrier family 35, member E3

Synonyms

9330166G04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R9797 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117569583-117582263 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117572016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 293 (T293I)

Ref Sequence

ENSEMBL: ENSMUSP00000078050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079041]

AlphaFold

Q6PGC7

Predicted Effect

probably benign
Transcript: ENSMUST00000079041
AA Change: T293I

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

SMART Domains

Protein: ENSMUSP00000078050
Gene: ENSMUSG00000060181
AA Change: T293I

Domain	Start	End	E-Value	Type
Pfam:TPT	13	295	5e-21	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	A	G	5: 26,054,895 (GRCm39)	Y403C	probably benign	Het
Afdn	A	G	17: 14,066,562 (GRCm39)	I600V	probably benign	Het
Akr1b8	G	A	6: 34,333,278 (GRCm39)	E52K	possibly damaging	Het
Alas1	A	G	9: 106,113,842 (GRCm39)	S468P	probably damaging	Het
Atp13a5	T	C	16: 29,133,491 (GRCm39)	T432A	probably benign	Het
B3glct	A	T	5: 149,650,304 (GRCm39)	T136S	probably benign	Het
Bahcc1	A	T	11: 120,159,147 (GRCm39)	R125*	probably null	Het
Brat1	A	G	5: 140,704,273 (GRCm39)	E842G	probably damaging	Het
Cacna1b	A	G	2: 24,508,287 (GRCm39)	L1830S	probably damaging	Het
Cd109	A	G	9: 78,579,217 (GRCm39)	N620D	probably benign	Het
Cdhr1	T	A	14: 36,803,462 (GRCm39)	D538V	probably damaging	Het
Cfap74	G	A	4: 155,514,402 (GRCm39)	C546Y		Het
Colq	T	A	14: 31,250,777 (GRCm39)	R343*	probably null	Het
Dmxl2	T	C	9: 54,358,187 (GRCm39)	K330R	probably benign	Het
Dnah5	A	G	15: 28,233,316 (GRCm39)	K225R	probably benign	Het
Dnase1l3	C	T	14: 7,984,127 (GRCm38)	S95N	probably damaging	Het
Fyco1	C	A	9: 123,626,761 (GRCm39)	A1317S	probably benign	Het
Gm9195	G	A	14: 72,687,705 (GRCm39)	P1944L	probably damaging	Het
Gse1	T	G	8: 121,215,864 (GRCm39)	L4R	probably damaging	Het
Gstm1	T	C	3: 107,925,080 (GRCm39)	I4M	probably benign	Het
Ighv2-3	A	T	12: 113,574,945 (GRCm39)	I70K	possibly damaging	Het
Krt71	C	T	15: 101,645,069 (GRCm39)	R414H	probably damaging	Het
Mcmbp	T	C	7: 128,317,696 (GRCm39)	E183G	possibly damaging	Het
Med13l	T	C	5: 118,880,144 (GRCm39)	S1079P	probably damaging	Het
Megf11	A	G	9: 64,545,591 (GRCm39)	I125V	possibly damaging	Het
Mtmr4	T	A	11: 87,494,962 (GRCm39)	V418E	probably damaging	Het
Mttp	T	C	3: 137,814,725 (GRCm39)	T517A	probably damaging	Het
Mx1	A	G	16: 97,252,893 (GRCm39)	V409A	probably benign	Het
Olfml1	C	A	7: 107,167,069 (GRCm39)	H33N	probably benign	Het
Or13p8	A	C	4: 118,584,079 (GRCm39)	I212L	probably benign	Het
Or4k15b	A	T	14: 50,272,224 (GRCm39)	V212D	probably benign	Het
Or5w19	A	T	2: 87,698,478 (GRCm39)	I48F	possibly damaging	Het
Or6k2	T	C	1: 173,986,417 (GRCm39)	I26T	probably benign	Het
Or6n1	T	A	1: 173,917,356 (GRCm39)	I250N	possibly damaging	Het
Parp12	C	A	6: 39,067,185 (GRCm39)	V536F	probably damaging	Het
Phf11a	T	C	14: 59,514,862 (GRCm39)	E273G	possibly damaging	Het
Pramel27	A	G	4: 143,579,818 (GRCm39)	T468A	possibly damaging	Het
Psd3	A	G	8: 68,210,778 (GRCm39)	Y743H	probably damaging	Het
Rnf213	T	A	11: 119,333,365 (GRCm39)	I2859N		Het
Sec23a	A	T	12: 59,052,060 (GRCm39)	C88*	probably null	Het
Sepsecs	A	G	5: 52,826,239 (GRCm39)		probably null	Het
Slc49a3	G	T	5: 108,593,403 (GRCm39)	T145N	probably benign	Het
Smu1	A	G	4: 40,739,538 (GRCm39)	I424T	possibly damaging	Het
Spata16	T	A	3: 26,968,925 (GRCm39)	I435N	probably damaging	Het
Tasp1	A	G	2: 139,838,015 (GRCm39)	S156P	probably benign	Het
Tmem237	A	C	1: 59,144,735 (GRCm39)	S398A	probably damaging	Het
Ttc39c	T	A	18: 12,828,542 (GRCm39)	L234Q	probably damaging	Het
Ubxn11	C	A	4: 133,851,426 (GRCm39)	T22K	probably benign	Het
Uts2r	C	A	11: 121,051,518 (GRCm39)	S127R	probably damaging	Het
Vmn1r236	A	G	17: 21,506,969 (GRCm39)	D29G	probably benign	Het
Vmn2r87	A	G	10: 130,308,138 (GRCm39)	I700T	probably damaging	Het
Vmn2r87	T	A	10: 130,312,064 (GRCm39)	T517S	probably benign	Het
Vps13b	T	A	15: 35,675,022 (GRCm39)	V1714E	probably damaging	Het
Wrn	T	A	8: 33,758,950 (GRCm39)	I1003L	probably benign	Het
Ylpm1	A	G	12: 85,077,109 (GRCm39)	D1278G	possibly damaging	Het
Zfp1006	T	A	8: 129,946,534 (GRCm39)	H97L	probably benign	Het
Zfp955a	A	C	17: 33,461,888 (GRCm39)	H81Q	possibly damaging	Het
Zfyve26	T	C	12: 79,293,006 (GRCm39)	T2048A	probably damaging	Het

Other mutations in Slc35e3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01746:Slc35e3	APN	10	117,580,807 (GRCm39)	missense	possibly damaging	0.76
humble	UTSW	10	117,580,884 (GRCm39)	missense	probably damaging	1.00
R0032:Slc35e3	UTSW	10	117,580,837 (GRCm39)	missense	probably benign
R0032:Slc35e3	UTSW	10	117,580,837 (GRCm39)	missense	probably benign
R0226:Slc35e3	UTSW	10	117,576,795 (GRCm39)	missense	possibly damaging	0.78
R0653:Slc35e3	UTSW	10	117,576,711 (GRCm39)	nonsense	probably null
R2317:Slc35e3	UTSW	10	117,580,804 (GRCm39)	missense	probably damaging	1.00
R5055:Slc35e3	UTSW	10	117,580,884 (GRCm39)	missense	probably damaging	1.00
R5801:Slc35e3	UTSW	10	117,581,767 (GRCm39)	missense	probably benign	0.00
R7578:Slc35e3	UTSW	10	117,576,484 (GRCm39)	missense	probably damaging	0.98
R7612:Slc35e3	UTSW	10	117,576,785 (GRCm39)	missense	probably benign	0.02
R8782:Slc35e3	UTSW	10	117,580,798 (GRCm39)	missense	probably damaging	1.00
R9060:Slc35e3	UTSW	10	117,581,688 (GRCm39)	critical splice donor site	probably null
X0009:Slc35e3	UTSW	10	117,572,139 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCTGAATGAACCATTTTGG -3'
(R):5'- GACCCTAACATCTAGCTCGTTG -3'

Sequencing Primer
(F):5'- TTTCCATAGACGACGCAC -3'
(R):5'- GCTCCTTTGTCTCCTTACCTGAATAC -3'

Posted On

2022-11-14