Mutagenetix > Incidental Mutation

Incidental Mutation 'R4666:Gtdc1'

351881

Institutional Source

Beutler Lab

Gene Symbol

Gtdc1

Ensembl Gene

ENSMUSG00000036890

Gene Name

glycosyltransferase-like domain containing 1

Synonyms

E330008O22Rik

MMRRC Submission

041924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44454424-44817669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44481937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 301 (N301S)

Ref Sequence

ENSEMBL: ENSMUSP00000108429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049051] [ENSMUST00000112810] [ENSMUST00000130991] [ENSMUST00000146694]

AlphaFold

Q8BW56

Predicted Effect

probably benign
Transcript: ENSMUST00000049051
AA Change: N242S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000038119
Gene: ENSMUSG00000036890
AA Change: N242S

Domain	Start	End	E-Value	Type
Pfam:DUF3524	1	108	1.4e-44	PFAM
Pfam:Glycos_transf_1	208	360	4.9e-13	PFAM
Pfam:Glyco_trans_1_4	210	348	2.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112810
AA Change: N301S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890
AA Change: N301S

Domain	Start	End	E-Value	Type
Pfam:DUF3524	2	167	1.3e-74	PFAM
Pfam:Glycos_transf_1	266	444	1.3e-10	PFAM
Pfam:Glyco_trans_1_4	269	407	1.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130991
AA Change: N187S

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

SMART Domains

Protein: ENSMUSP00000116839
Gene: ENSMUSG00000036890
AA Change: N187S

Domain	Start	End	E-Value	Type
Pfam:DUF3524	1	87	1.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146694
AA Change: N138S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000119639
Gene: ENSMUSG00000036890
AA Change: N138S

Domain	Start	End	E-Value	Type
Pfam:DUF3524	1	116	1e-44	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 37,289,794 (GRCm39)	S12L	probably benign	Het
Abce1	A	G	8: 80,414,115 (GRCm39)	V532A	probably damaging	Het
Adamts12	T	A	15: 11,311,578 (GRCm39)	N1278K	probably benign	Het
Adipor1	T	A	1: 134,352,643 (GRCm39)	I138N	probably damaging	Het
Aox1	C	T	1: 58,343,756 (GRCm39)	Q480*	probably null	Het
Arhgef38	C	T	3: 132,846,533 (GRCm39)		probably null	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
Bltp3a	G	T	17: 28,112,477 (GRCm39)	W1222L	possibly damaging	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Cdh8	T	C	8: 99,751,534 (GRCm39)	T728A	possibly damaging	Het
Celsr1	A	G	15: 85,914,695 (GRCm39)	S1093P	probably damaging	Het
Cep135	C	A	5: 76,764,701 (GRCm39)	P560T	probably benign	Het
Chfr	C	T	5: 110,292,733 (GRCm39)	Q167*	probably null	Het
Chrna4	A	G	2: 180,679,286 (GRCm39)	S54P	probably damaging	Het
Cntln	A	G	4: 84,889,453 (GRCm39)	N312S	probably benign	Het
Cntn6	A	G	6: 104,705,245 (GRCm39)	E154G	probably benign	Het
Col6a6	T	A	9: 105,644,541 (GRCm39)	Y1249F	possibly damaging	Het
Cpsf2	T	C	12: 101,949,466 (GRCm39)	S61P	probably damaging	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Cryba2	C	T	1: 74,929,207 (GRCm39)	D179N	probably benign	Het
Daglb	A	T	5: 143,489,104 (GRCm39)	R654W	probably damaging	Het
Dennd3	A	G	15: 73,442,709 (GRCm39)	D1244G	probably damaging	Het
Dhx57	T	C	17: 80,582,390 (GRCm39)	E405G	probably damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Dph1	A	G	11: 75,072,156 (GRCm39)	S238P	probably damaging	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Ebf1	A	G	11: 44,882,384 (GRCm39)	N447D	probably damaging	Het
Epg5	A	G	18: 78,056,079 (GRCm39)	N1751S	probably benign	Het
Exoc6	A	G	19: 37,558,953 (GRCm39)	D75G	probably damaging	Het
Extl2	T	A	3: 115,817,856 (GRCm39)	I70N	probably damaging	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fbln7	T	A	2: 128,736,830 (GRCm39)		probably null	Het
Foxa3	G	T	7: 18,748,297 (GRCm39)	C275*	probably null	Het
Foxred1	C	T	9: 35,122,151 (GRCm39)		probably benign	Het
Galr2	A	G	11: 116,174,455 (GRCm39)	T362A	probably benign	Het
Garem2	C	A	5: 30,319,665 (GRCm39)	R376S	probably damaging	Het
Garre1	T	C	7: 33,984,198 (GRCm39)	M142V	probably damaging	Het
Gatc	T	A	5: 115,473,606 (GRCm39)	N111I	probably benign	Het
Gjb4	C	A	4: 127,245,571 (GRCm39)	K123N	probably damaging	Het
Gm9894	T	C	13: 67,913,213 (GRCm39)		noncoding transcript	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Gtsf1	T	C	15: 103,329,632 (GRCm39)	I96V	probably benign	Het
Homer1	T	A	13: 93,538,667 (GRCm39)	I170N	probably damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Hoxb9	A	G	11: 96,165,657 (GRCm39)	K242R	possibly damaging	Het
Ifna14	T	C	4: 88,489,573 (GRCm39)	R155G	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Lsm11	A	G	11: 45,824,640 (GRCm39)	S296P	probably damaging	Het
Macrod2	T	C	2: 142,059,519 (GRCm39)	L265P	probably damaging	Het
Mcu	G	A	10: 59,292,521 (GRCm39)	L53F	probably damaging	Het
Mpv17l2	A	G	8: 71,213,061 (GRCm39)	V104A	possibly damaging	Het
Myh10	G	A	11: 68,692,556 (GRCm39)		probably null	Het
Nemf	T	C	12: 69,359,054 (GRCm39)	E1031G	probably damaging	Het
Nhsl1	G	A	10: 18,407,153 (GRCm39)	S1395N	probably damaging	Het
Niban3	G	T	8: 72,056,469 (GRCm39)	E390*	probably null	Het
Nlrp2	T	A	7: 5,322,188 (GRCm39)	I82F	probably benign	Het
Nlrp4e	T	A	7: 23,036,205 (GRCm39)	L686*	probably null	Het
Nudt12os	T	A	17: 59,331,546 (GRCm39)		noncoding transcript	Het
Or10ag57	T	A	2: 87,218,220 (GRCm39)	I57K	probably damaging	Het
Or10j5	G	A	1: 172,785,157 (GRCm39)	S265N	probably benign	Het
Or2h1b	A	T	17: 37,462,270 (GRCm39)	S44T	possibly damaging	Het
Or5ac23	A	G	16: 59,149,573 (GRCm39)	Y100H	possibly damaging	Het
Or5k16	T	C	16: 58,736,947 (GRCm39)	D19G	probably benign	Het
Or8g27	T	A	9: 39,129,142 (GRCm39)	M163K	probably damaging	Het
Pde7a	T	C	3: 19,314,420 (GRCm39)	T59A	probably damaging	Het
Pde7b	A	C	10: 20,314,496 (GRCm39)	D203E	probably damaging	Het
Phkg2	T	A	7: 127,177,156 (GRCm39)	I94N	possibly damaging	Het
Pik3r2	G	A	8: 71,221,503 (GRCm39)	T667I	possibly damaging	Het
Pitx3	T	A	19: 46,125,540 (GRCm39)	H68L	possibly damaging	Het
Prcd	A	G	11: 116,558,990 (GRCm39)		probably benign	Het
Prune2	C	T	19: 17,097,552 (GRCm39)	R1019*	probably null	Het
Psap	A	G	10: 60,136,324 (GRCm39)	D486G	probably benign	Het
Purb	A	T	11: 6,425,615 (GRCm39)	V91E	probably damaging	Het
Recql	C	A	6: 142,322,567 (GRCm39)	V112F	probably damaging	Het
Rptor	A	T	11: 119,634,708 (GRCm39)	I175F	probably damaging	Het
Sbf1	C	T	15: 89,179,449 (GRCm39)	V1385M	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Slc35f6	T	C	5: 30,812,957 (GRCm39)	L37P	probably damaging	Het
Slc6a3	T	A	13: 73,686,700 (GRCm39)	N22K	possibly damaging	Het
Sorl1	A	T	9: 41,915,347 (GRCm39)	M1294K	probably damaging	Het
Sp6	C	A	11: 96,912,701 (GRCm39)	A138E	probably benign	Het
Spag8	G	T	4: 43,653,408 (GRCm39)		probably benign	Het
Spmip4	G	T	6: 50,572,808 (GRCm39)	T35K	possibly damaging	Het
Spon1	T	A	7: 113,628,204 (GRCm39)	M320K	probably benign	Het
Tceanc2	A	T	4: 107,022,757 (GRCm39)	S77T	probably damaging	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,674,270 (GRCm39)		probably null	Het
Tmprss11d	T	C	5: 86,457,260 (GRCm39)	D133G	probably damaging	Het
Trav13n-3	T	A	14: 53,574,953 (GRCm39)	V65D	probably damaging	Het
Trpm1	G	T	7: 63,852,782 (GRCm39)	L65F	probably damaging	Het
Tyk2	C	T	9: 21,025,503 (GRCm39)	A741T	probably damaging	Het
Ube2v1	T	A	2: 167,452,297 (GRCm39)	Y102F	probably damaging	Het
Uckl1	A	T	2: 181,216,661 (GRCm39)	S95T	possibly damaging	Het
Vcan	C	A	13: 89,828,053 (GRCm39)	W2171L	probably damaging	Het
Vinac1	T	C	2: 128,880,150 (GRCm39)	H592R	probably benign	Het
Vmn1r64	T	C	7: 5,887,357 (GRCm39)	N62S	probably damaging	Het
Vmn2r67	T	C	7: 84,799,831 (GRCm39)	D469G	probably benign	Het
Vps13b	A	G	15: 35,640,690 (GRCm39)	S1352G	probably benign	Het
Zbtb38	C	T	9: 96,570,436 (GRCm39)	R216H	probably damaging	Het

Other mutations in Gtdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01594:Gtdc1	APN	2	44,481,891 (GRCm39)	critical splice donor site	probably null
IGL02133:Gtdc1	APN	2	44,465,455 (GRCm39)	missense	probably damaging	1.00
IGL02465:Gtdc1	APN	2	44,460,435 (GRCm39)	missense	probably damaging	1.00
IGL02488:Gtdc1	APN	2	44,715,451 (GRCm39)	missense	probably benign	0.38
IGL02835:Gtdc1	UTSW	2	44,646,324 (GRCm39)	nonsense	probably null
K3955:Gtdc1	UTSW	2	44,642,233 (GRCm39)	critical splice acceptor site	probably null
R0121:Gtdc1	UTSW	2	44,455,550 (GRCm39)	splice site	probably benign
R0270:Gtdc1	UTSW	2	44,642,186 (GRCm39)	missense	possibly damaging	0.94
R0490:Gtdc1	UTSW	2	44,525,052 (GRCm39)	missense	probably benign	0.03
R1506:Gtdc1	UTSW	2	44,465,506 (GRCm39)	missense	possibly damaging	0.65
R1889:Gtdc1	UTSW	2	44,481,926 (GRCm39)	missense	probably damaging	1.00
R1944:Gtdc1	UTSW	2	44,642,198 (GRCm39)	missense	possibly damaging	0.95
R3724:Gtdc1	UTSW	2	44,646,319 (GRCm39)	missense	probably damaging	0.96
R4134:Gtdc1	UTSW	2	44,715,430 (GRCm39)	missense	probably damaging	1.00
R4416:Gtdc1	UTSW	2	44,465,602 (GRCm39)	splice site	probably null
R4732:Gtdc1	UTSW	2	44,679,067 (GRCm39)	intron	probably benign
R4947:Gtdc1	UTSW	2	44,481,968 (GRCm39)	missense	probably null	0.01
R5474:Gtdc1	UTSW	2	44,646,379 (GRCm39)	missense	probably damaging	1.00
R5911:Gtdc1	UTSW	2	44,642,076 (GRCm39)	missense	probably benign	0.41
R6370:Gtdc1	UTSW	2	44,646,334 (GRCm39)	missense	probably damaging	0.99
R6809:Gtdc1	UTSW	2	44,715,396 (GRCm39)	missense	probably damaging	1.00
R6809:Gtdc1	UTSW	2	44,465,563 (GRCm39)	nonsense	probably null
R7270:Gtdc1	UTSW	2	44,525,322 (GRCm39)	missense	probably benign	0.01
R7581:Gtdc1	UTSW	2	44,680,017 (GRCm39)	splice site	probably null
R8547:Gtdc1	UTSW	2	44,678,993 (GRCm39)	intron	probably benign
R8951:Gtdc1	UTSW	2	44,679,030 (GRCm39)	intron	probably benign
R8997:Gtdc1	UTSW	2	44,715,386 (GRCm39)	missense	probably benign	0.02
R9796:Gtdc1	UTSW	2	44,715,386 (GRCm39)	missense	probably benign	0.02
X0063:Gtdc1	UTSW	2	44,460,459 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCTTGGTTAACAGAGCTCGG -3'
(R):5'- GTCTAGAGATGTTATAGTTCAGAGAGG -3'

Sequencing Primer
(F):5'- TTAACAGAGCTCGGCTTGAC -3'
(R):5'- CTCTGAATTCAGGGGCTTCC -3'

Posted On

2015-10-08