Mutagenetix > Incidental Mutation

Incidental Mutation 'R9127:Gm5431'

693345

Institutional Source

Beutler Lab

Gene Symbol

Gm5431

Ensembl Gene

ENSMUSG00000058163

Gene Name

predicted gene 5431

Synonyms

MMRRC Submission

068926-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R9127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48778249-48792979 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 48779600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 441 (K441*)

Ref Sequence

ENSEMBL: ENSMUSP00000104833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109209] [ENSMUST00000109210] [ENSMUST00000109212]

AlphaFold

Q5NCB3

Predicted Effect

probably null
Transcript: ENSMUST00000109209
AA Change: K441*

SMART Domains

Protein: ENSMUSP00000104832
Gene: ENSMUSG00000058163
AA Change: K441*

Domain	Start	End	E-Value	Type
Pfam:IIGP	1	120	1.6e-22	PFAM
low complexity region	153	166	N/A	INTRINSIC
Pfam:IIGP	169	542	9.4e-154	PFAM
Pfam:MMR_HSR1	205	359	1.5e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109210
AA Change: K441*

SMART Domains

Protein: ENSMUSP00000104833
Gene: ENSMUSG00000058163
AA Change: K441*

Domain	Start	End	E-Value	Type
Pfam:IIGP	1	120	1.6e-22	PFAM
low complexity region	153	166	N/A	INTRINSIC
Pfam:IIGP	169	542	9.4e-154	PFAM
Pfam:MMR_HSR1	205	359	1.5e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109212
AA Change: K719*

SMART Domains

Protein: ENSMUSP00000104835
Gene: ENSMUSG00000058163
AA Change: K719*

Domain	Start	End	E-Value	Type
Pfam:IIGP	36	398	2.5e-125	PFAM
Pfam:DLIC	54	107	3.4e-5	PFAM
Pfam:MMR_HSR1	72	235	1.7e-11	PFAM
low complexity region	431	444	N/A	INTRINSIC
Pfam:IIGP	447	820	6.3e-153	PFAM
Pfam:MMR_HSR1	483	606	2.4e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,242,080 (GRCm39)	D1314E	probably benign	Het
Abcb1a	A	T	5: 8,724,707 (GRCm39)	R47W	probably benign	Het
Abcc6	T	C	7: 45,629,184 (GRCm39)	N1354S	probably damaging	Het
Abracl	T	C	10: 17,887,444 (GRCm39)	Y61C	probably damaging	Het
Adamtsl1	A	G	4: 86,208,027 (GRCm39)	T633A	probably benign	Het
Agap3	G	A	5: 24,681,439 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,400,904 (GRCm39)	M647K	probably damaging	Het
Akap7	G	T	10: 25,155,676 (GRCm39)	S72R	unknown	Het
Arhgef12	A	G	9: 42,885,870 (GRCm39)	L1251S	possibly damaging	Het
Astn2	A	T	4: 66,322,164 (GRCm39)	V145E	unknown	Het
Atxn2l	A	T	7: 126,097,393 (GRCm39)	S304R	probably damaging	Het
Cd226	A	T	18: 89,287,155 (GRCm39)	I318F	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cfap65	A	T	1: 74,958,510 (GRCm39)		probably benign	Het
Cfap96	T	G	8: 46,415,403 (GRCm39)	D201A	probably benign	Het
Chtf8	A	G	8: 107,613,640 (GRCm39)	V18A	probably benign	Het
Cit	G	T	5: 116,074,896 (GRCm39)	E683*	probably null	Het
Ckmt2	T	C	13: 92,007,337 (GRCm39)	R286G	probably damaging	Het
Clec4a2	T	A	6: 123,116,218 (GRCm39)	W128R	probably damaging	Het
Clec4n	T	G	6: 123,212,447 (GRCm39)	S88A	probably damaging	Het
Cndp2	G	A	18: 84,699,121 (GRCm39)	A48V	probably benign	Het
Csmd1	T	C	8: 16,273,286 (GRCm39)	T849A	probably benign	Het
Cts3	A	T	13: 61,715,235 (GRCm39)	Y199*	probably null	Het
Dag1	A	T	9: 108,085,734 (GRCm39)	L469*	probably null	Het
Dclre1c	T	C	2: 3,439,125 (GRCm39)	V225A		Het
Dedd	A	G	1: 171,166,409 (GRCm39)	D115G	probably damaging	Het
Efcab3	T	A	11: 104,741,407 (GRCm39)	V2166D	probably benign	Het
Eif2ak3	T	A	6: 70,860,704 (GRCm39)	W427R	probably damaging	Het
Fbln2	T	A	6: 91,210,473 (GRCm39)	V139D	probably damaging	Het
Fbn1	A	T	2: 125,223,985 (GRCm39)	M588K	possibly damaging	Het
Gm17019	A	T	5: 15,081,113 (GRCm39)	Y109*	probably null	Het
Gm32742	T	A	9: 51,056,015 (GRCm39)	N1255Y	probably damaging	Het
Golga2	A	G	2: 32,196,079 (GRCm39)	D898G		Het
Gramd4	G	A	15: 85,975,525 (GRCm39)	R39H	probably benign	Het
Gucy1a2	A	G	9: 3,634,553 (GRCm39)	N199S	probably damaging	Het
Heyl	G	A	4: 123,139,885 (GRCm39)	R148H	probably damaging	Het
Ifi208	A	T	1: 173,523,400 (GRCm39)	M557L	probably benign	Het
Igf2r	A	G	17: 12,958,238 (GRCm39)	V145A	probably damaging	Het
Ighv1-4	A	T	12: 114,450,879 (GRCm39)	Y76*	probably null	Het
Ikzf4	T	C	10: 128,468,487 (GRCm39)	D664G	unknown	Het
Il1a	T	A	2: 129,146,715 (GRCm39)	Y126F	possibly damaging	Het
Lmf2	C	A	15: 89,239,771 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,808,827 (GRCm39)	S166P	probably damaging	Het
Mgat5	A	C	1: 127,294,197 (GRCm39)	T180P	probably benign	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mov10	G	T	3: 104,711,659 (GRCm39)	Y209*	probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Numa1	T	A	7: 101,641,869 (GRCm39)	S106T	possibly damaging	Het
Or1e1d-ps1	A	T	11: 73,819,167 (GRCm39)	E39V	probably damaging	Het
Or4c124	G	A	2: 89,156,474 (GRCm39)	Q17*	probably null	Het
Or5b107	A	G	19: 13,142,396 (GRCm39)	N6S	probably damaging	Het
Or7g27	A	G	9: 19,250,026 (GRCm39)	H90R	probably benign	Het
Pcdhb14	A	G	18: 37,582,091 (GRCm39)	N399S	probably damaging	Het
Plcl2	T	A	17: 50,918,032 (GRCm39)	S944T	probably benign	Het
Pml	A	T	9: 58,127,660 (GRCm39)	I695N	probably benign	Het
Ppard	G	T	17: 28,505,349 (GRCm39)	R12L	unknown	Het
Ppip5k1	C	T	2: 121,158,125 (GRCm39)		probably null	Het
Ppp1r3g	T	C	13: 36,152,621 (GRCm39)	S14P	probably benign	Het
Pramel55	A	G	5: 95,951,623 (GRCm39)	Y470C	probably damaging	Het
Prrc2b	C	A	2: 32,103,764 (GRCm39)	R1081S	probably damaging	Het
Rasgrp2	A	T	19: 6,454,438 (GRCm39)	E160D	possibly damaging	Het
Rb1cc1	G	A	1: 6,333,073 (GRCm39)	V1331I	probably damaging	Het
Rnd3	A	T	2: 51,022,413 (GRCm39)	S210T	probably benign	Het
Scaf11	T	C	15: 96,312,764 (GRCm39)	T1426A	probably benign	Het
Sin3b	C	T	8: 73,460,034 (GRCm39)	T207I	possibly damaging	Het
Slc26a7	A	T	4: 14,593,873 (GRCm39)	Y81N	probably damaging	Het
Slc28a3	C	T	13: 58,724,581 (GRCm39)	M224I	probably benign	Het
Slc30a1	T	C	1: 191,639,342 (GRCm39)	I75T	probably damaging	Het
Slc6a21	T	A	7: 44,929,674 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,945,243 (GRCm39)	L206Q	probably damaging	Het
Spata31d1e	A	G	13: 59,890,828 (GRCm39)	S331P	probably benign	Het
Sptbn1	A	G	11: 30,104,356 (GRCm39)	V116A	probably damaging	Het
Syngap1	G	A	17: 27,181,095 (GRCm39)	D1008N	probably damaging	Het
Syt11	T	C	3: 88,669,643 (GRCm39)	D83G	probably benign	Het
Syt14	G	A	1: 192,584,131 (GRCm39)	T428I	probably damaging	Het
Taf15	T	A	11: 83,395,085 (GRCm39)	Y338*	probably null	Het
Tfap4	A	T	16: 4,365,183 (GRCm39)	M253K	possibly damaging	Het
Tnr	T	C	1: 159,713,680 (GRCm39)	S703P	possibly damaging	Het
Trrap	G	A	5: 144,767,830 (GRCm39)	D2577N	probably benign	Het
Uqcc6	A	T	10: 82,458,588 (GRCm39)	M21K	probably benign	Het
Wdr20	C	T	12: 110,759,597 (GRCm39)	S161L	possibly damaging	Het
Zfp503	C	A	14: 22,037,418 (GRCm39)	V62L	probably benign	Het

Other mutations in Gm5431

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Gm5431	APN	11	48,786,241 (GRCm39)	missense	probably benign	0.09
IGL00964:Gm5431	APN	11	48,780,094 (GRCm39)	missense	probably damaging	0.99
IGL01571:Gm5431	APN	11	48,785,540 (GRCm39)	missense	probably benign	0.00
IGL02006:Gm5431	APN	11	48,779,330 (GRCm39)	missense	probably damaging	1.00
IGL02084:Gm5431	APN	11	48,779,912 (GRCm39)	missense	probably benign	0.41
IGL02255:Gm5431	APN	11	48,779,785 (GRCm39)	missense	possibly damaging	0.93
IGL02291:Gm5431	APN	11	48,779,791 (GRCm39)	missense	probably damaging	1.00
IGL03194:Gm5431	APN	11	48,786,364 (GRCm39)	intron	probably benign
IGL03251:Gm5431	APN	11	48,785,548 (GRCm39)	missense	probably benign	0.00
R1168:Gm5431	UTSW	11	48,786,191 (GRCm39)	missense	probably benign	0.36
R1387:Gm5431	UTSW	11	48,785,842 (GRCm39)	missense	possibly damaging	0.92
R1396:Gm5431	UTSW	11	48,786,261 (GRCm39)	intron	probably benign
R1711:Gm5431	UTSW	11	48,785,853 (GRCm39)	missense	possibly damaging	0.73
R1750:Gm5431	UTSW	11	48,785,658 (GRCm39)	missense	probably benign	0.01
R1927:Gm5431	UTSW	11	48,780,082 (GRCm39)	missense	probably damaging	1.00
R1957:Gm5431	UTSW	11	48,779,224 (GRCm39)	nonsense	probably null
R2196:Gm5431	UTSW	11	48,780,058 (GRCm39)	missense	probably damaging	1.00
R2509:Gm5431	UTSW	11	48,779,536 (GRCm39)	missense	probably benign	0.16
R2511:Gm5431	UTSW	11	48,779,536 (GRCm39)	missense	probably benign	0.16
R4018:Gm5431	UTSW	11	48,779,995 (GRCm39)	missense	probably damaging	1.00
R4859:Gm5431	UTSW	11	48,780,409 (GRCm39)	missense	probably damaging	1.00
R4895:Gm5431	UTSW	11	48,779,855 (GRCm39)	missense	probably damaging	0.98
R5124:Gm5431	UTSW	11	48,779,866 (GRCm39)	missense	probably benign	0.31
R5311:Gm5431	UTSW	11	48,779,716 (GRCm39)	missense	probably damaging	1.00
R5600:Gm5431	UTSW	11	48,785,583 (GRCm39)	missense	possibly damaging	0.56
R5728:Gm5431	UTSW	11	48,779,440 (GRCm39)	missense	probably damaging	1.00
R5731:Gm5431	UTSW	11	48,785,275 (GRCm39)	missense	probably damaging	0.96
R6120:Gm5431	UTSW	11	48,785,608 (GRCm39)	missense	probably benign	0.36
R6129:Gm5431	UTSW	11	48,780,418 (GRCm39)	missense	probably damaging	1.00
R6169:Gm5431	UTSW	11	48,779,402 (GRCm39)	missense	probably benign	0.29
R6192:Gm5431	UTSW	11	48,785,220 (GRCm39)	missense	probably benign	0.01
R6253:Gm5431	UTSW	11	48,785,826 (GRCm39)	missense	probably benign	0.00
R6326:Gm5431	UTSW	11	48,780,172 (GRCm39)	missense	probably damaging	1.00
R6401:Gm5431	UTSW	11	48,779,536 (GRCm39)	missense	probably benign	0.16
R6654:Gm5431	UTSW	11	48,785,427 (GRCm39)	missense	possibly damaging	0.91
R6810:Gm5431	UTSW	11	48,779,803 (GRCm39)	missense	probably damaging	1.00
R6965:Gm5431	UTSW	11	48,786,027 (GRCm39)	missense	probably benign	0.19
R6970:Gm5431	UTSW	11	48,779,317 (GRCm39)	missense	probably damaging	1.00
R7269:Gm5431	UTSW	11	48,779,237 (GRCm39)	missense	probably benign
R7770:Gm5431	UTSW	11	48,779,285 (GRCm39)	missense	probably benign	0.02
R8260:Gm5431	UTSW	11	48,785,556 (GRCm39)	missense	probably benign	0.01
R8385:Gm5431	UTSW	11	48,780,347 (GRCm39)	missense	probably damaging	1.00
R9058:Gm5431	UTSW	11	48,786,049 (GRCm39)	missense	probably benign	0.09
R9138:Gm5431	UTSW	11	48,780,498 (GRCm39)	missense	probably benign	0.05
R9355:Gm5431	UTSW	11	48,785,275 (GRCm39)	missense	probably damaging	0.96
R9655:Gm5431	UTSW	11	48,785,799 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTTTCTAAAGTAAAGGCCTGAGG -3'
(R):5'- TGGAGAACACCCTACTGAGG -3'

Sequencing Primer
(F):5'- GTGGTCCCCCAGTAACACAG -3'
(R):5'- GGAACTCCCAGCCCACAAG -3'

Posted On

2022-01-20