Mutagenetix > Incidental Mutation

Incidental Mutation 'R9406:Gm4884'

711531

Institutional Source

Beutler Lab

Gene Symbol

Gm4884

Ensembl Gene

ENSMUSG00000048312

Gene Name

predicted gene 4884

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R9406 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40682143-40694726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40692565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 178 (D178V)

Ref Sequence

ENSEMBL: ENSMUSP00000133059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164422]

AlphaFold

E9PVP9

Predicted Effect

probably damaging
Transcript: ENSMUST00000164422
AA Change: D178V

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

SMART Domains

Protein: ENSMUSP00000133059
Gene: ENSMUSG00000048312
AA Change: D178V

Domain	Start	End	E-Value	Type
Pfam:DUF4629	243	387	8e-62	PFAM
low complexity region	509	533	N/A	INTRINSIC
internal_repeat_1	554	584	1.89e-11	PROSPERO
internal_repeat_1	583	613	1.89e-11	PROSPERO

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	A	G	17: 35,879,487 (GRCm39)	Y275C	possibly damaging	Het
4932414N04Rik	A	G	2: 68,498,019 (GRCm39)	K150R	unknown	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,361,866 (GRCm39)		probably null	Het
Ank3	C	A	10: 69,645,011 (GRCm39)	T92K	unknown	Het
Armh4	C	T	14: 50,010,945 (GRCm39)	G254E	possibly damaging	Het
Cdca2	T	C	14: 67,937,772 (GRCm39)	S294G	unknown	Het
Cerk	A	G	15: 86,028,787 (GRCm39)	I423T	possibly damaging	Het
Cfap74	A	T	4: 155,510,626 (GRCm39)	K404*	probably null	Het
Cftr	T	C	6: 18,299,866 (GRCm39)	V1213A	probably benign	Het
Chst11	A	G	10: 83,026,881 (GRCm39)	T103A	possibly damaging	Het
Col22a1	A	G	15: 71,845,541 (GRCm39)	I407T	probably damaging	Het
Cpn2	A	G	16: 30,078,360 (GRCm39)	V447A	probably benign	Het
Crybg3	T	C	16: 59,378,839 (GRCm39)	E805G	probably benign	Het
Cstb	A	G	10: 78,263,173 (GRCm39)	H66R	probably benign	Het
Cyp2g1	T	C	7: 26,518,910 (GRCm39)		probably null	Het
Fkbp1b	G	T	12: 4,883,732 (GRCm39)	H88N	probably benign	Het
Grik5	T	C	7: 24,757,969 (GRCm39)	T371A	probably benign	Het
Hydin	G	A	8: 111,314,412 (GRCm39)	G4299S	probably null	Het
Ibtk	A	T	9: 85,603,393 (GRCm39)	Y537*	probably null	Het
Ighv8-9	A	G	12: 115,432,257 (GRCm39)	L18P	probably damaging	Het
Lbp	G	T	2: 158,159,477 (GRCm39)	K203N	probably benign	Het
Lilra6	C	T	7: 3,917,853 (GRCm39)	R97Q	probably benign	Het
Man1c1	A	G	4: 134,303,318 (GRCm39)	I392T	probably damaging	Het
Mcf2l	A	T	8: 13,059,676 (GRCm39)	H727L	probably damaging	Het
Med7	T	A	11: 46,331,865 (GRCm39)	F153L	probably benign	Het
Neurl1b	G	C	17: 26,657,820 (GRCm39)	V253L	probably benign	Het
Noc2l	T	C	4: 156,320,511 (GRCm39)	S4P	probably benign	Het
Obscn	A	C	11: 58,947,805 (GRCm39)	F4408C		Het
Or1j17	A	G	2: 36,578,296 (GRCm39)	Y94C	possibly damaging	Het
Or4f62	A	G	2: 111,986,643 (GRCm39)	I116V	probably benign	Het
Orc2	T	C	1: 58,506,842 (GRCm39)	Q498R	probably damaging	Het
Oxsm	A	C	14: 16,242,531 (GRCm38)	D79E	probably benign	Het
Pask	G	A	1: 93,251,987 (GRCm39)	T464I	probably benign	Het
Pcdha8	A	G	18: 37,126,922 (GRCm39)	N468S	probably damaging	Het
Pcm1	T	A	8: 41,728,722 (GRCm39)	V565E	probably damaging	Het
Pcsk5	T	C	19: 17,771,097 (GRCm39)	I67V	probably benign	Het
Pde4d	A	G	13: 109,877,064 (GRCm39)	D139G	probably damaging	Het
Pdzd8	C	T	19: 59,333,245 (GRCm39)	E259K		Het
Phactr3	T	C	2: 177,925,856 (GRCm39)	L377P	probably damaging	Het
Ppargc1b	G	A	18: 61,444,051 (GRCm39)	P387S	possibly damaging	Het
Prmt7	T	G	8: 106,970,435 (GRCm39)	V426G	probably damaging	Het
Rab39	G	C	9: 53,597,915 (GRCm39)	P117A	probably damaging	Het
Rab40b	G	A	11: 121,254,352 (GRCm39)	R62*	probably null	Het
Rpf1	T	G	3: 146,213,937 (GRCm39)	H220P	probably damaging	Het
Rps6kl1	A	G	12: 85,186,280 (GRCm39)	I276T	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sestd1	G	A	2: 77,075,421 (GRCm39)		probably benign	Het
Slc38a6	T	A	12: 73,376,767 (GRCm39)	Y140*	probably null	Het
Smpd1	C	A	7: 105,203,750 (GRCm39)	H4Q	possibly damaging	Het
Sox8	A	T	17: 25,786,634 (GRCm39)	S356R	probably damaging	Het
Tapbpl	A	G	6: 125,205,319 (GRCm39)	L209P	probably damaging	Het
Txndc11	A	G	16: 10,893,498 (GRCm39)	L744P	probably benign	Het
Ush2a	C	T	1: 187,995,646 (GRCm39)	P139L	probably benign	Het
Vmn1r54	A	T	6: 90,246,092 (GRCm39)	N2I	probably damaging	Het
Vmn2r112	C	T	17: 22,824,223 (GRCm39)	Q493*	probably null	Het
Vps16	T	C	2: 130,283,425 (GRCm39)		probably null	Het
Zfp40	A	T	17: 23,396,129 (GRCm39)	S153T	possibly damaging	Het
Zfp523	G	A	17: 28,416,840 (GRCm39)	A109T	probably benign	Het
Zfp78	A	T	7: 6,382,182 (GRCm39)	N411Y	probably benign	Het

Other mutations in Gm4884

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Gm4884	APN	7	40,693,809 (GRCm39)	missense	probably benign	0.22
IGL00980:Gm4884	APN	7	40,693,150 (GRCm39)	missense	probably damaging	1.00
IGL02230:Gm4884	APN	7	40,692,829 (GRCm39)	missense	probably damaging	1.00
IGL03271:Gm4884	APN	7	40,692,699 (GRCm39)	missense	probably benign	0.33
IGL03274:Gm4884	APN	7	40,693,969 (GRCm39)	missense	probably damaging	1.00
R0013:Gm4884	UTSW	7	40,693,716 (GRCm39)	missense	probably damaging	1.00
R0139:Gm4884	UTSW	7	40,692,387 (GRCm39)	missense	probably benign	0.00
R0179:Gm4884	UTSW	7	40,693,252 (GRCm39)	missense	probably benign	0.26
R0960:Gm4884	UTSW	7	40,692,232 (GRCm39)	missense	possibly damaging	0.55
R1167:Gm4884	UTSW	7	40,693,336 (GRCm39)	missense	possibly damaging	0.92
R1311:Gm4884	UTSW	7	40,692,539 (GRCm39)	missense	possibly damaging	0.73
R1466:Gm4884	UTSW	7	40,692,552 (GRCm39)	missense	probably damaging	0.96
R1466:Gm4884	UTSW	7	40,692,552 (GRCm39)	missense	probably damaging	0.96
R1581:Gm4884	UTSW	7	40,693,255 (GRCm39)	missense	probably benign	0.09
R1622:Gm4884	UTSW	7	40,692,265 (GRCm39)	missense	probably damaging	0.99
R1891:Gm4884	UTSW	7	40,692,539 (GRCm39)	missense	possibly damaging	0.73
R1952:Gm4884	UTSW	7	40,693,671 (GRCm39)	missense	probably benign	0.02
R2198:Gm4884	UTSW	7	40,690,229 (GRCm39)	missense	probably benign
R2209:Gm4884	UTSW	7	40,692,745 (GRCm39)	missense	possibly damaging	0.47
R2210:Gm4884	UTSW	7	40,692,970 (GRCm39)	missense	possibly damaging	0.72
R2219:Gm4884	UTSW	7	40,692,910 (GRCm39)	missense	possibly damaging	0.75
R3688:Gm4884	UTSW	7	40,692,910 (GRCm39)	missense	possibly damaging	0.75
R4437:Gm4884	UTSW	7	40,692,514 (GRCm39)	missense	probably damaging	0.97
R4472:Gm4884	UTSW	7	40,692,687 (GRCm39)	missense	probably benign	0.35
R5137:Gm4884	UTSW	7	40,692,318 (GRCm39)	missense	probably damaging	0.99
R5700:Gm4884	UTSW	7	40,692,643 (GRCm39)	missense	probably benign	0.22
R5875:Gm4884	UTSW	7	40,692,360 (GRCm39)	missense	possibly damaging	0.75
R6479:Gm4884	UTSW	7	40,690,211 (GRCm39)	missense	probably damaging	0.99
R6659:Gm4884	UTSW	7	40,694,046 (GRCm39)	missense	probably damaging	1.00
R7180:Gm4884	UTSW	7	40,693,633 (GRCm39)	missense	possibly damaging	0.89
R7844:Gm4884	UTSW	7	40,690,122 (GRCm39)	missense	probably benign	0.11
R8153:Gm4884	UTSW	7	40,692,582 (GRCm39)	missense	probably benign	0.17
R8436:Gm4884	UTSW	7	40,692,810 (GRCm39)	missense	probably damaging	0.97
R8880:Gm4884	UTSW	7	40,693,911 (GRCm39)	missense	probably damaging	1.00
R8885:Gm4884	UTSW	7	40,694,108 (GRCm39)	nonsense	probably null
R9621:Gm4884	UTSW	7	40,693,111 (GRCm39)	missense	possibly damaging	0.76
R9728:Gm4884	UTSW	7	40,692,689 (GRCm39)	missense	probably benign	0.00
RF013:Gm4884	UTSW	7	40,690,233 (GRCm39)	missense	probably damaging	1.00
Z1088:Gm4884	UTSW	7	40,692,300 (GRCm39)	missense	possibly damaging	0.71
Z1177:Gm4884	UTSW	7	40,682,161 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCCTTCACAGTTCCTGGC -3'
(R):5'- TCCCTCACCTGGTCAAAGAG -3'

Sequencing Primer
(F):5'- CACAGTTCCTGGCCTTGC -3'
(R):5'- AAAGAGGCCACTGGTGACTCTC -3'

Posted On

2022-05-16