Mutagenetix > Incidental Mutation

Incidental Mutation 'R2173:Fut10'

237622

Institutional Source

Beutler Lab

Gene Symbol

Fut10

Ensembl Gene

ENSMUSG00000046152

Gene Name

fucosyltransferase 10

Synonyms

MMRRC Submission

040175-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31677359-31751766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31726159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 305 (Y305N)

Ref Sequence

ENSEMBL: ENSMUSP00000124437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066173] [ENSMUST00000110527] [ENSMUST00000161502] [ENSMUST00000161788]

AlphaFold

Q5F2L2

Predicted Effect

probably damaging
Transcript: ENSMUST00000066173
AA Change: Y305N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069816
Gene: ENSMUSG00000046152
AA Change: Y305N

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:Glyco_tran_10_N	79	184	5e-13	PFAM
Pfam:Glyco_transf_10	209	410	7.9e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110527

SMART Domains

Protein: ENSMUSP00000106156
Gene: ENSMUSG00000046152

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_10	7	134	3e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161502
AA Change: Y305N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125265
Gene: ENSMUSG00000046152
AA Change: Y305N

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_10	7	412	4.1e-92	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161788
AA Change: Y305N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124437
Gene: ENSMUSG00000046152
AA Change: Y305N

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_10	7	411	1.3e-92	PFAM
low complexity region	418	429	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162162

Meta Mutation Damage Score

0.8456

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	T	A	3: 127,477,239 (GRCm39)	H273L	probably damaging	Het
Alpk3	A	G	7: 80,726,648 (GRCm39)	Y111C	probably damaging	Het
Anapc2	T	G	2: 25,163,288 (GRCm39)	V175G	probably benign	Het
Arhgap30	T	C	1: 171,235,335 (GRCm39)	S570P	probably damaging	Het
AU040320	T	C	4: 126,686,069 (GRCm39)	L215P	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc65	A	G	15: 98,618,914 (GRCm39)	N298D	probably benign	Het
Cfap70	T	A	14: 20,458,630 (GRCm39)	N727Y	probably benign	Het
Clcn7	A	G	17: 25,364,583 (GRCm39)	H63R	probably benign	Het
Corin	A	T	5: 72,661,422 (GRCm39)	C24S	probably benign	Het
Cyp1a2	A	G	9: 57,584,798 (GRCm39)	W419R	probably damaging	Het
Dlgap4	C	A	2: 156,604,732 (GRCm39)	A256D	probably damaging	Het
Eif4enif1	A	G	11: 3,192,367 (GRCm39)		probably null	Het
Eri2	A	G	7: 119,385,766 (GRCm39)	V245A	possibly damaging	Het
Erich6b	T	C	14: 75,896,332 (GRCm39)	F73L	probably benign	Het
Fam110a	A	G	2: 151,812,429 (GRCm39)	C114R	probably damaging	Het
Fam149a	T	C	8: 45,806,991 (GRCm39)	D288G	probably damaging	Het
Fam171a1	T	A	2: 3,226,656 (GRCm39)	Y596*	probably null	Het
Fsd1	A	G	17: 56,298,223 (GRCm39)	T183A	possibly damaging	Het
Ganab	A	T	19: 8,879,624 (GRCm39)		probably benign	Het
Gm9922	G	T	14: 101,967,012 (GRCm39)		probably benign	Het
Gp9	A	G	6: 87,756,035 (GRCm39)	T17A	probably benign	Het
Gxylt2	T	C	6: 100,775,115 (GRCm39)	Y345H	probably damaging	Het
Herc2	A	G	7: 55,835,699 (GRCm39)	H3269R	probably benign	Het
Hpx	A	T	7: 105,241,290 (GRCm39)	S374T	probably benign	Het
Hspa5	T	C	2: 34,664,674 (GRCm39)	V376A	probably damaging	Het
Hyi	T	C	4: 118,219,381 (GRCm39)		probably benign	Het
Impdh2	G	A	9: 108,442,593 (GRCm39)		probably null	Het
Kremen2	A	C	17: 23,961,770 (GRCm39)	W246G	probably damaging	Het
Krt87	A	G	15: 101,385,818 (GRCm39)	V259A	probably damaging	Het
L3mbtl4	A	T	17: 68,894,188 (GRCm39)	H398L	probably damaging	Het
Lama5	C	A	2: 179,838,035 (GRCm39)	V894L	probably benign	Het
Maml2	A	G	9: 13,532,912 (GRCm39)		probably benign	Het
Nup153	A	T	13: 46,855,076 (GRCm39)		probably benign	Het
Or10g6	T	G	9: 39,934,550 (GRCm39)	I287S	probably damaging	Het
Or2y15	G	T	11: 49,350,967 (GRCm39)	V154L	probably benign	Het
Or5k14	A	G	16: 58,692,982 (GRCm39)	F177S	probably damaging	Het
Or8b3b	T	C	9: 38,584,240 (GRCm39)	I180V	probably benign	Het
Or9r7	G	A	10: 129,962,372 (GRCm39)	P185S	probably benign	Het
Otof	C	T	5: 30,543,718 (GRCm39)	R582H	probably damaging	Het
Otud4	T	C	8: 80,395,093 (GRCm39)	S543P	probably damaging	Het
Pde6a	A	G	18: 61,387,453 (GRCm39)	D448G	probably damaging	Het
Phgdh	A	G	3: 98,222,427 (GRCm39)	V388A	probably benign	Het
Plin3	G	T	17: 56,586,891 (GRCm39)	D385E	possibly damaging	Het
Polg	G	T	7: 79,105,341 (GRCm39)	D734E	probably damaging	Het
Pomt1	T	C	2: 32,140,912 (GRCm39)	Y515H	probably damaging	Het
Prr35	A	C	17: 26,167,461 (GRCm39)	H25Q	probably damaging	Het
Pwwp2a	G	A	11: 43,573,313 (GRCm39)	A132T	probably benign	Het
Rbm6	A	T	9: 107,729,390 (GRCm39)	F419L	possibly damaging	Het
Rfx5	A	G	3: 94,864,027 (GRCm39)		probably null	Het
Rnf135	G	A	11: 80,080,066 (GRCm39)	S119N	probably benign	Het
Scfd1	T	A	12: 51,433,862 (GRCm39)	D51E	probably benign	Het
Smox	A	T	2: 131,353,944 (GRCm39)	E5D	possibly damaging	Het
Srpk2	T	C	5: 23,723,613 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,147,763 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,738,893 (GRCm39)	S853P	possibly damaging	Het
Tmem131l	A	G	3: 83,833,452 (GRCm39)	F804L	probably damaging	Het
Ttll8	A	G	15: 88,798,800 (GRCm39)	L645P	probably damaging	Het
Ubr3	T	A	2: 69,727,743 (GRCm39)	H35Q	probably benign	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Vmn2r70	A	T	7: 85,214,290 (GRCm39)	H287Q	probably benign	Het
Vps26a	A	T	10: 62,304,171 (GRCm39)	I150N	probably damaging	Het
Zfp605	G	A	5: 110,275,323 (GRCm39)	R147H	probably benign	Het
Zfyve16	A	G	13: 92,631,596 (GRCm39)	M1333T	probably damaging	Het

Other mutations in Fut10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Fut10	APN	8	31,685,319 (GRCm39)	critical splice donor site	probably null
IGL00566:Fut10	APN	8	31,725,712 (GRCm39)	missense	probably damaging	1.00
IGL00858:Fut10	APN	8	31,725,733 (GRCm39)	missense	probably damaging	0.97
IGL00861:Fut10	APN	8	31,725,733 (GRCm39)	missense	probably damaging	0.97
IGL00862:Fut10	APN	8	31,725,733 (GRCm39)	missense	probably damaging	0.97
IGL01916:Fut10	APN	8	31,725,734 (GRCm39)	missense	probably benign	0.01
IGL02030:Fut10	APN	8	31,726,006 (GRCm39)	nonsense	probably null
IGL02318:Fut10	APN	8	31,726,286 (GRCm39)	missense	probably damaging	1.00
IGL02354:Fut10	APN	8	31,691,398 (GRCm39)	missense	probably damaging	0.99
IGL02361:Fut10	APN	8	31,691,398 (GRCm39)	missense	probably damaging	0.99
IGL02932:Fut10	APN	8	31,749,965 (GRCm39)	missense	probably damaging	1.00
IGL03345:Fut10	APN	8	31,750,069 (GRCm39)	missense	probably damaging	1.00
R0234:Fut10	UTSW	8	31,726,225 (GRCm39)	missense	probably damaging	1.00
R0234:Fut10	UTSW	8	31,726,225 (GRCm39)	missense	probably damaging	1.00
R1728:Fut10	UTSW	8	31,691,418 (GRCm39)	missense	probably benign	0.00
R1729:Fut10	UTSW	8	31,691,418 (GRCm39)	missense	probably benign	0.00
R1845:Fut10	UTSW	8	31,726,328 (GRCm39)	missense	probably damaging	1.00
R2518:Fut10	UTSW	8	31,726,495 (GRCm39)	missense	probably benign	0.19
R3692:Fut10	UTSW	8	31,726,048 (GRCm39)	missense	possibly damaging	0.94
R4449:Fut10	UTSW	8	31,726,285 (GRCm39)	missense	probably damaging	1.00
R5015:Fut10	UTSW	8	31,726,148 (GRCm39)	missense	probably damaging	0.96
R5942:Fut10	UTSW	8	31,691,485 (GRCm39)	missense	possibly damaging	0.62
R6497:Fut10	UTSW	8	31,726,278 (GRCm39)	missense	probably damaging	0.99
R7566:Fut10	UTSW	8	31,749,950 (GRCm39)	missense	probably benign	0.00
R7645:Fut10	UTSW	8	31,726,232 (GRCm39)	missense	possibly damaging	0.92
R8127:Fut10	UTSW	8	31,684,999 (GRCm39)	start gained	probably benign
R8241:Fut10	UTSW	8	31,750,034 (GRCm39)	nonsense	probably null
R8899:Fut10	UTSW	8	31,726,514 (GRCm39)	missense	possibly damaging	0.46
R9314:Fut10	UTSW	8	31,691,504 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAACAGAGATCTTCCCCAGC -3'
(R):5'- TGTCCTGGTTAATGTCCTGC -3'

Sequencing Primer
(F):5'- AGAGATCTTCCCCAGCAGCTG -3'
(R):5'- TTCATTGAGAGCTGTCAGAAGCC -3'

Posted On

2014-10-02