Mutagenetix > Incidental Mutation

Incidental Mutation 'R0137:6430548M08Rik'

22039

Institutional Source

Beutler Lab

Gene Symbol

6430548M08Rik

Ensembl Gene

ENSMUSG00000031824

Gene Name

RIKEN cDNA 6430548M08 gene

Synonyms

MMRRC Submission

038422-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R0137 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

120840891-120892045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120878115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 190 (H190L)

Ref Sequence

ENSEMBL: ENSMUSP00000104576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034281] [ENSMUST00000108948] [ENSMUST00000108950] [ENSMUST00000108951] [ENSMUST00000127664] [ENSMUST00000153725]

AlphaFold

Q8R0A7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034281
AA Change: H190L

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824
AA Change: H190L

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108948
AA Change: H190L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104576
Gene: ENSMUSG00000031824
AA Change: H190L

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108950
AA Change: H190L

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104578
Gene: ENSMUSG00000031824
AA Change: H190L

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108951
AA Change: H190L

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824
AA Change: H190L

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144682

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153725
AA Change: H190L

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114976
Gene: ENSMUSG00000031824
AA Change: H190L

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212474

Meta Mutation Damage Score

0.4477

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

95% (94/99)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	A	G	5: 139,278,976 (GRCm39)		probably benign	Het
Adgra3	C	T	5: 50,121,182 (GRCm39)		probably benign	Het
Adgre5	A	T	8: 84,451,527 (GRCm39)	V527E	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Angptl6	C	A	9: 20,789,683 (GRCm39)	A70S	probably benign	Het
Ankdd1a	C	A	9: 65,417,610 (GRCm39)	K137N	probably null	Het
Ccdc170	T	C	10: 4,496,950 (GRCm39)		probably benign	Het
Ccdc51	A	G	9: 108,920,698 (GRCm39)	E195G	probably damaging	Het
Cdc37	A	T	9: 21,053,426 (GRCm39)	C204S	possibly damaging	Het
Cfap36	T	C	11: 29,172,431 (GRCm39)		probably benign	Het
Col6a2	C	A	10: 76,432,259 (GRCm39)	G965C	probably damaging	Het
Csn1s2a	G	A	5: 87,926,826 (GRCm39)	S53N	possibly damaging	Het
Dab2ip	T	C	2: 35,582,388 (GRCm39)		probably null	Het
Dhx58	A	G	11: 100,587,823 (GRCm39)	V578A	probably damaging	Het
Diaph1	G	T	18: 38,024,902 (GRCm39)	Q520K	unknown	Het
Eefsec	C	A	6: 88,274,631 (GRCm39)	K444N	probably benign	Het
Eftud2	A	T	11: 102,759,443 (GRCm39)	H153Q	possibly damaging	Het
Eif5b	T	G	1: 38,058,324 (GRCm39)	S209A	probably benign	Het
Exosc2	T	A	2: 31,562,497 (GRCm39)	Y46N	probably damaging	Het
F2	C	T	2: 91,456,075 (GRCm39)	G562D	probably damaging	Het
Fgf23	G	A	6: 127,057,128 (GRCm39)	G148D	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fstl5	G	A	3: 76,614,786 (GRCm39)	G179R	probably damaging	Het
Garre1	A	T	7: 33,938,644 (GRCm39)	W246R	probably damaging	Het
Gart	T	A	16: 91,422,282 (GRCm39)	Q745L	probably benign	Het
Gmeb1	T	A	4: 131,959,419 (GRCm39)	M212L	probably benign	Het
Gpaa1	T	C	15: 76,218,981 (GRCm39)	Y548H	probably damaging	Het
Gpatch1	T	C	7: 34,986,667 (GRCm39)	E763G	probably damaging	Het
Grm8	T	A	6: 27,762,389 (GRCm39)	I279F	probably damaging	Het
Hcls1	T	A	16: 36,771,536 (GRCm39)	H147Q	probably damaging	Het
Hpcal1	A	C	12: 17,836,389 (GRCm39)	D73A	probably damaging	Het
Il22ra1	T	C	4: 135,478,317 (GRCm39)	S463P	probably benign	Het
Itgbl1	G	A	14: 124,078,098 (GRCm39)		probably null	Het
Izumo3	G	T	4: 92,035,437 (GRCm39)		probably benign	Het
Kcna5	A	T	6: 126,510,346 (GRCm39)	L594Q	probably damaging	Het
Kif13a	A	T	13: 46,918,079 (GRCm39)	D409E	probably benign	Het
Kif9	A	T	9: 110,314,106 (GRCm39)	I39F	probably damaging	Het
Klri2	C	T	6: 129,709,171 (GRCm39)	R227H	possibly damaging	Het
Lamc3	G	A	2: 31,798,628 (GRCm39)	G445S	probably damaging	Het
Lctl	A	G	9: 64,024,980 (GRCm39)		probably benign	Het
Lrp4	T	C	2: 91,325,327 (GRCm39)	L1384P	probably damaging	Het
Mcm9	G	A	10: 53,439,526 (GRCm39)	S549L	possibly damaging	Het
Ms4a15	G	A	19: 10,956,697 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Nckap1l	A	T	15: 103,390,391 (GRCm39)	I721F	probably benign	Het
Nemp2	T	C	1: 52,684,588 (GRCm39)	V298A	probably benign	Het
Npc1l1	T	A	11: 6,178,148 (GRCm39)	K421*	probably null	Het
Npr1	C	T	3: 90,363,244 (GRCm39)	V879M	probably damaging	Het
Odad4	A	G	11: 100,454,394 (GRCm39)	E393G	probably damaging	Het
Or2ad1	A	G	13: 21,326,336 (GRCm39)	V297A	possibly damaging	Het
Or51q1c	A	G	7: 103,652,709 (GRCm39)	T82A	probably benign	Het
Osgin1	A	T	8: 120,169,219 (GRCm39)	I39F	possibly damaging	Het
Phip	G	C	9: 82,809,244 (GRCm39)		probably null	Het
Pkdrej	G	T	15: 85,705,768 (GRCm39)	P56Q	possibly damaging	Het
Plcxd2	A	G	16: 45,800,889 (GRCm39)	Y112H	probably damaging	Het
Plekha1	C	T	7: 130,499,176 (GRCm39)	T155M	probably damaging	Het
Prkdc	T	C	16: 15,558,196 (GRCm39)		probably null	Het
Prss1	A	G	6: 41,439,495 (GRCm39)	H76R	probably damaging	Het
Psg23	T	C	7: 18,348,558 (GRCm39)	D83G	probably benign	Het
Ptprd	T	A	4: 76,055,140 (GRCm39)	Q196L	probably benign	Het
Ranbp3l	A	T	15: 9,063,067 (GRCm39)	H292L	probably damaging	Het
Ranbp6	T	C	19: 29,787,097 (GRCm39)	E1085G	probably benign	Het
Rccd1	A	G	7: 79,970,326 (GRCm39)	V97A	possibly damaging	Het
Rchy1	T	C	5: 92,105,458 (GRCm39)	S48G	probably benign	Het
Rnmt	G	A	18: 68,446,771 (GRCm39)	M265I	probably benign	Het
Robo3	A	T	9: 37,336,640 (GRCm39)	M376K	probably benign	Het
Rrp12	T	C	19: 41,862,289 (GRCm39)	D898G	probably benign	Het
Scg3	A	T	9: 75,570,462 (GRCm39)		probably benign	Het
Sec31b	A	T	19: 44,522,821 (GRCm39)	M57K	probably damaging	Het
Slc17a6	A	C	7: 51,315,892 (GRCm39)	I387L	probably benign	Het
Speer4a1	T	A	5: 26,240,982 (GRCm39)	Q170L	possibly damaging	Het
Srsf9	A	G	5: 115,470,260 (GRCm39)	D146G	possibly damaging	Het
Ss18	A	G	18: 14,788,200 (GRCm39)	M90T	probably damaging	Het
Syna	A	T	5: 134,588,314 (GRCm39)	F212I	possibly damaging	Het
Tex54	A	G	19: 8,718,221 (GRCm39)		probably benign	Het
Thsd1	A	G	8: 22,733,055 (GRCm39)	H34R	probably damaging	Het
Tmem143	T	C	7: 45,547,086 (GRCm39)	I84T	probably benign	Het
Trim50	T	C	5: 135,395,487 (GRCm39)	V281A	probably damaging	Het
Trp53i11	C	A	2: 93,029,696 (GRCm39)		probably benign	Het
Ttll4	C	T	1: 74,718,851 (GRCm39)	T234I	possibly damaging	Het
Ttyh1	A	T	7: 4,127,719 (GRCm39)	I136F	possibly damaging	Het
Ube2f	T	C	1: 91,189,976 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,037,083 (GRCm39)	L227*	probably null	Het
Vmn1r222	A	C	13: 23,416,974 (GRCm39)	C80G	probably damaging	Het
Vps13b	G	T	15: 35,926,365 (GRCm39)	A3889S	probably benign	Het
Vps8	T	C	16: 21,323,136 (GRCm39)		probably benign	Het
Zbtb44	A	G	9: 30,978,006 (GRCm39)	Y422C	probably damaging	Het
Zfp180	A	G	7: 23,805,158 (GRCm39)	S526G	possibly damaging	Het
Zfp518a	A	C	19: 40,904,310 (GRCm39)	E1413A	probably damaging	Het
Zfp629	T	A	7: 127,210,858 (GRCm39)	Y317F	probably damaging	Het
Zfp804b	T	C	5: 6,820,534 (GRCm39)	E843G	probably benign	Het

Other mutations in 6430548M08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02861:6430548M08Rik	APN	8	120,876,863 (GRCm39)	missense	probably damaging	1.00
R1019:6430548M08Rik	UTSW	8	120,872,209 (GRCm39)	missense	probably damaging	0.98
R1140:6430548M08Rik	UTSW	8	120,876,874 (GRCm39)	missense	probably damaging	1.00
R2026:6430548M08Rik	UTSW	8	120,880,205 (GRCm39)	missense	probably benign	0.00
R2209:6430548M08Rik	UTSW	8	120,884,227 (GRCm39)	missense	possibly damaging	0.73
R2508:6430548M08Rik	UTSW	8	120,872,132 (GRCm39)	missense	probably benign	0.03
R2884:6430548M08Rik	UTSW	8	120,872,250 (GRCm39)	missense	possibly damaging	0.94
R3724:6430548M08Rik	UTSW	8	120,876,099 (GRCm39)	missense	probably damaging	1.00
R3944:6430548M08Rik	UTSW	8	120,879,241 (GRCm39)	missense	probably damaging	1.00
R4584:6430548M08Rik	UTSW	8	120,886,756 (GRCm39)	missense	probably damaging	1.00
R4668:6430548M08Rik	UTSW	8	120,887,153 (GRCm39)	critical splice donor site	probably null
R5883:6430548M08Rik	UTSW	8	120,872,380 (GRCm39)	missense	possibly damaging	0.68
R6621:6430548M08Rik	UTSW	8	120,872,162 (GRCm39)	missense	possibly damaging	0.60
R6919:6430548M08Rik	UTSW	8	120,872,221 (GRCm39)	missense	probably damaging	1.00
R7023:6430548M08Rik	UTSW	8	120,872,096 (GRCm39)	missense	probably damaging	1.00
R7035:6430548M08Rik	UTSW	8	120,879,225 (GRCm39)	missense	probably damaging	1.00
R7218:6430548M08Rik	UTSW	8	120,872,322 (GRCm39)	missense	probably damaging	1.00
R7343:6430548M08Rik	UTSW	8	120,872,327 (GRCm39)	missense	probably benign
R7424:6430548M08Rik	UTSW	8	120,872,284 (GRCm39)	missense	probably damaging	1.00
R7711:6430548M08Rik	UTSW	8	120,886,723 (GRCm39)	missense	possibly damaging	0.91
R8511:6430548M08Rik	UTSW	8	120,879,301 (GRCm39)	missense	probably benign	0.29
R9009:6430548M08Rik	UTSW	8	120,878,279 (GRCm39)	intron	probably benign
R9489:6430548M08Rik	UTSW	8	120,872,380 (GRCm39)	missense	possibly damaging	0.68
R9605:6430548M08Rik	UTSW	8	120,872,380 (GRCm39)	missense	possibly damaging	0.68
R9606:6430548M08Rik	UTSW	8	120,880,706 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAATGGGCTGAGCTTCCTGGAC -3'
(R):5'- GCTTTGCTGGAGCAGAAAGCTGAG -3'

Sequencing Primer
(F):5'- TGATCTTAATGTGAAAGCGAGC -3'
(R):5'- AGCTGAGTCCCCACATGTAG -3'

Posted On

2013-04-12