Mutagenetix > Incidental Mutation

Incidental Mutation 'R1558:Mgat4f'

170391

Institutional Source

Beutler Lab

Gene Symbol

Mgat4f

Ensembl Gene

ENSMUSG00000050526

Gene Name

MGAT4 family, member F

Synonyms

4933406M09Rik

MMRRC Submission

039597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1558 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134313678-134318719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134318512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 428 (G428D)

Ref Sequence

ENSEMBL: ENSMUSP00000124251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162187]

AlphaFold

G3XA12

Predicted Effect

probably damaging
Transcript: ENSMUST00000162187
AA Change: G428D

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

SMART Domains

Protein: ENSMUSP00000124251
Gene: ENSMUSG00000050526
AA Change: G428D

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_54	52	326	7.6e-79	PFAM
low complexity region	395	405	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.6%

Validation Efficiency

Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(4)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	A	4: 53,092,887 (GRCm39)	Q299L	probably null	Het
Adamts9	T	G	6: 92,885,692 (GRCm39)	K399N	possibly damaging	Het
Alox12b	T	C	11: 69,056,711 (GRCm39)	F369S	probably damaging	Het
Alpk2	A	G	18: 65,483,301 (GRCm39)	Y236H	probably benign	Het
Ankrd36	T	C	11: 5,585,329 (GRCm39)	L380P	probably damaging	Het
Atp2a1	C	T	7: 126,051,844 (GRCm39)	A468T	possibly damaging	Het
Caprin1	A	T	2: 103,606,332 (GRCm39)	F303I	possibly damaging	Het
Casp7	A	T	19: 56,421,684 (GRCm39)	R41*	probably null	Het
Ccdc66	T	A	14: 27,208,463 (GRCm39)	H753L	probably benign	Het
Ccnc	T	C	4: 21,742,671 (GRCm39)	M166T	probably benign	Het
Cdkl3	T	A	11: 51,923,337 (GRCm39)	M538K	possibly damaging	Het
Cemip2	T	A	19: 21,775,346 (GRCm39)	Y196*	probably null	Het
Cercam	G	A	2: 29,766,251 (GRCm39)	A345T	probably benign	Het
Chmp3	T	A	6: 71,537,954 (GRCm39)	C60*	probably null	Het
Ddx1	C	T	12: 13,289,542 (GRCm39)	G125S	probably damaging	Het
Defb7	A	G	8: 19,547,567 (GRCm39)	D24G	probably benign	Het
Dgcr8	A	T	16: 18,077,452 (GRCm39)	Y653N	probably damaging	Het
Dsc2	T	C	18: 20,183,208 (GRCm39)	D70G	probably damaging	Het
Erich3	T	G	3: 154,419,705 (GRCm39)	N266K	probably damaging	Het
Fastk	A	T	5: 24,649,045 (GRCm39)		probably null	Het
Fat4	A	G	3: 38,943,135 (GRCm39)	N676S	probably damaging	Het
Fermt1	A	T	2: 132,776,739 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,523,463 (GRCm39)	T1149A	possibly damaging	Het
Foxo3	A	G	10: 42,073,068 (GRCm39)	V483A	probably damaging	Het
Fpgs	T	C	2: 32,575,852 (GRCm39)	T364A	possibly damaging	Het
Gm12185	A	G	11: 48,806,262 (GRCm39)	S310P	probably damaging	Het
Gm15056	A	T	8: 21,391,949 (GRCm39)		probably benign	Het
Hcn1	T	C	13: 118,112,112 (GRCm39)	V692A	unknown	Het
Izumo3	A	C	4: 92,035,140 (GRCm39)	C26G	probably damaging	Het
Kcnf1	T	C	12: 17,225,474 (GRCm39)	Y249C	probably damaging	Het
Kcnj6	T	C	16: 94,563,358 (GRCm39)	E380G	possibly damaging	Het
Kdm3b	A	G	18: 34,942,149 (GRCm39)	T747A	probably damaging	Het
Lrba	G	A	3: 86,258,622 (GRCm39)	G1370R	probably damaging	Het
Mei1	G	A	15: 81,991,334 (GRCm39)	R504Q	probably damaging	Het
Mipol1	T	C	12: 57,379,127 (GRCm39)	I195T	probably damaging	Het
Ncor2	G	A	5: 125,110,610 (GRCm39)	T1350I	probably damaging	Het
Npy	A	G	6: 49,800,705 (GRCm39)	E43G	probably damaging	Het
Or4e5	T	A	14: 52,727,603 (GRCm39)	I273F	probably benign	Het
Or5w19	T	A	2: 87,698,459 (GRCm39)	N41K	probably damaging	Het
Or8d2	T	A	9: 38,760,200 (GRCm39)	N263K	probably benign	Het
Pcdhb3	T	C	18: 37,434,634 (GRCm39)	L200P	probably damaging	Het
Pcnt	G	A	10: 76,258,756 (GRCm39)	H570Y	possibly damaging	Het
Phf8-ps	T	A	17: 33,284,679 (GRCm39)	I708F	probably benign	Het
Pkd1l2	A	C	8: 117,808,991 (GRCm39)	D66E	possibly damaging	Het
Plekhg4	A	G	8: 106,108,467 (GRCm39)	D1170G	possibly damaging	Het
Poln	T	A	5: 34,190,143 (GRCm39)	H672L	probably benign	Het
Ptprq	T	C	10: 107,479,904 (GRCm39)	Y1122C	probably damaging	Het
Ptrhd1	A	G	12: 4,286,505 (GRCm39)	Y132C	probably damaging	Het
Pwwp3a	G	T	10: 80,068,778 (GRCm39)	R307S	probably benign	Het
Riok1	G	T	13: 38,234,831 (GRCm39)	R300L	probably damaging	Het
Sbf2	G	T	7: 110,027,553 (GRCm39)	T481K	probably damaging	Het
Sidt2	A	T	9: 45,863,098 (GRCm39)	M11K	probably damaging	Het
Slc66a1	A	T	4: 139,027,391 (GRCm39)		probably benign	Het
Syne1	G	A	10: 5,299,280 (GRCm39)	R992*	probably null	Het
Tmem8b	C	A	4: 43,681,134 (GRCm39)	R384S	possibly damaging	Het
Trim28	T	C	7: 12,761,761 (GRCm39)	Y243H	probably damaging	Het
Trpm6	T	C	19: 18,764,192 (GRCm39)	M266T	probably benign	Het
Tsg101	A	T	7: 46,539,437 (GRCm39)	S368T	probably damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Ttc6	G	A	12: 57,733,132 (GRCm39)	V1092I	probably benign	Het
Vps13b	C	T	15: 35,534,465 (GRCm39)	T927I	probably damaging	Het
Zfr	C	T	15: 12,140,730 (GRCm39)	T259I	unknown	Het

Other mutations in Mgat4f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01554:Mgat4f	APN	1	134,317,696 (GRCm39)	missense	probably damaging	1.00
IGL01862:Mgat4f	APN	1	134,318,349 (GRCm39)	missense	probably benign	0.03
P0005:Mgat4f	UTSW	1	134,315,646 (GRCm39)	missense	probably benign	0.00
R0498:Mgat4f	UTSW	1	134,318,610 (GRCm39)	missense	possibly damaging	0.69
R0563:Mgat4f	UTSW	1	134,317,777 (GRCm39)	missense	probably benign	0.00
R0731:Mgat4f	UTSW	1	134,317,713 (GRCm39)	missense	probably benign
R2146:Mgat4f	UTSW	1	134,318,251 (GRCm39)	missense	probably damaging	1.00
R2148:Mgat4f	UTSW	1	134,318,251 (GRCm39)	missense	probably damaging	1.00
R2901:Mgat4f	UTSW	1	134,318,662 (GRCm39)	missense	probably damaging	0.99
R3897:Mgat4f	UTSW	1	134,318,176 (GRCm39)	missense	possibly damaging	0.92
R4543:Mgat4f	UTSW	1	134,317,531 (GRCm39)	missense	probably benign	0.31
R4937:Mgat4f	UTSW	1	134,317,714 (GRCm39)	missense	probably benign	0.00
R5490:Mgat4f	UTSW	1	134,317,666 (GRCm39)	missense	probably damaging	1.00
R5684:Mgat4f	UTSW	1	134,317,660 (GRCm39)	missense	probably benign	0.04
R5823:Mgat4f	UTSW	1	134,318,655 (GRCm39)	missense	probably damaging	0.98
R6488:Mgat4f	UTSW	1	134,318,626 (GRCm39)	missense	probably damaging	1.00
R7177:Mgat4f	UTSW	1	134,318,163 (GRCm39)	missense	probably benign	0.08
R7201:Mgat4f	UTSW	1	134,318,206 (GRCm39)	missense	possibly damaging	0.69
R7671:Mgat4f	UTSW	1	134,317,800 (GRCm39)	missense	probably benign	0.27
R7749:Mgat4f	UTSW	1	134,318,250 (GRCm39)	missense	probably benign	0.45
R8385:Mgat4f	UTSW	1	134,318,376 (GRCm39)	missense	probably benign	0.00
R9393:Mgat4f	UTSW	1	134,318,596 (GRCm39)	missense	probably benign	0.02
Z1177:Mgat4f	UTSW	1	134,317,896 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTTGGACCCTCTAGAAGGCAAC -3'
(R):5'- TCCTGACCCACAGGCCGATCTTAC -3'

Sequencing Primer
(F):5'- CTCTAGAAGGCAACTACTTGCTG -3'
(R):5'- ctctcggttttatctagctttgtg -3'

Posted On

2014-04-13