Mutagenetix > Incidental Mutation

Incidental Mutation 'R9606:6430548M08Rik'

723877

Institutional Source

Beutler Lab

Gene Symbol

6430548M08Rik

Ensembl Gene

ENSMUSG00000031824

Gene Name

RIKEN cDNA 6430548M08 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9606 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120840891-120892045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120880706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 286 (Y286C)

Ref Sequence

ENSEMBL: ENSMUSP00000034281 (fasta)

Gene Model

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

AlphaFold

Q8R0A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034281
AA Change: Y286C

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

SMART Domains

Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824
AA Change: Y286C

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 damaging
Transcript: ENSMUST00000108948
AA Change: Y286C

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

SMART Domains

Protein: ENSMUSP00000104576
Gene: ENSMUSG00000031824
AA Change: Y286C

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 damaging
Transcript: ENSMUST00000108950
AA Change: Y286C

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

SMART Domains

Protein: ENSMUSP00000104578
Gene: ENSMUSG00000031824
AA Change: Y286C

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 damaging
Transcript: ENSMUST00000108951
AA Change: Y286C

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

SMART Domains

Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824
AA Change: Y286C

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

probably benign
Transcript: ENSMUST00000153725

SMART Domains

Protein: ENSMUSP00000114976
Gene: ENSMUSG00000031824

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1c	T	C	6: 118,587,455 (GRCm39)	T1657A		Het
Ccs	A	T	19: 4,882,897 (GRCm39)	D151E	probably benign	Het
Cfap74	A	G	4: 155,509,133 (GRCm39)	T295A		Het
Chmp4c	A	T	3: 10,432,222 (GRCm39)	E44V	probably damaging	Het
Crybg2	A	T	4: 133,801,383 (GRCm39)	K539*	probably null	Het
Dgkg	T	C	16: 22,441,011 (GRCm39)	M1V	probably null	Het
E2f2	T	A	4: 135,911,743 (GRCm39)	Y251*	probably null	Het
Fat2	T	C	11: 55,180,093 (GRCm39)	Y1416C	probably damaging	Het
Fgl2	T	C	5: 21,577,991 (GRCm39)	S93P	possibly damaging	Het
Hivep3	C	T	4: 119,989,786 (GRCm39)	T2079I	probably damaging	Het
Igfl3	A	C	7: 17,913,920 (GRCm39)	K90T	possibly damaging	Het
Lsamp	A	G	16: 41,709,292 (GRCm39)	D74G	probably benign	Het
Mmrn2	C	A	14: 34,119,654 (GRCm39)	T211K	possibly damaging	Het
Mov10	A	T	3: 104,707,664 (GRCm39)	V570D	probably benign	Het
Mrc1	A	T	2: 14,313,517 (GRCm39)	Y916F	probably benign	Het
Myo10	CAGGTATAAAG	CAG	15: 25,776,401 (GRCm39)		probably null	Het
Ndc1	T	A	4: 107,246,686 (GRCm39)	C370S	probably damaging	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Nrcam	A	T	12: 44,609,240 (GRCm39)	N455I	probably damaging	Het
Nrp1	G	A	8: 129,229,029 (GRCm39)	E836K	probably benign	Het
Or2t29	C	T	11: 58,433,753 (GRCm39)	C196Y	probably damaging	Het
Or5b120	A	T	19: 13,479,943 (GRCm39)	K79*	probably null	Het
Or6c216	A	T	10: 129,678,625 (GRCm39)	C95*	probably null	Het
Or8b1d	A	G	9: 38,558,620 (GRCm39)	S67P	probably damaging	Het
Pcca	T	C	14: 122,901,717 (GRCm39)	S287P	probably damaging	Het
Pitpnm3	T	A	11: 71,955,069 (GRCm39)	T482S	probably benign	Het
Pld2	C	T	11: 70,445,893 (GRCm39)	R676*	probably null	Het
Ppm1k	T	C	6: 57,491,057 (GRCm39)	Y286C	possibly damaging	Het
Rb1	T	C	14: 73,517,573 (GRCm39)	N278D	probably damaging	Het
Sema3g	T	C	14: 30,943,783 (GRCm39)	L221P	probably damaging	Het
Skint2	C	T	4: 112,483,147 (GRCm39)	T184I	probably benign	Het
Slc38a2	A	G	15: 96,591,172 (GRCm39)	F232S	probably damaging	Het
Snx6	T	C	12: 54,814,811 (GRCm39)	N170S	probably benign	Het
Sox9	T	A	11: 112,673,416 (GRCm39)	N2K	probably damaging	Het
Sp140l1	G	C	1: 85,075,344 (GRCm39)		probably null	Het
Srpk2	T	C	5: 23,729,604 (GRCm39)	E345G	probably benign	Het
Tbc1d21	T	C	9: 58,268,487 (GRCm39)	M291V	possibly damaging	Het
Tekt2	T	C	4: 126,218,693 (GRCm39)	N20S	probably benign	Het
Tnxb	T	G	17: 34,914,578 (GRCm39)	I1888S	possibly damaging	Het
Tsnaxip1	G	A	8: 106,566,685 (GRCm39)	E174K	probably damaging	Het
Ttc28	G	A	5: 111,433,140 (GRCm39)	R2058Q	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ttyh2	T	A	11: 114,601,667 (GRCm39)	D430E	probably benign	Het
Ubr2	C	T	17: 47,245,020 (GRCm39)	G1669R	probably damaging	Het
Vcan	A	T	13: 89,853,491 (GRCm39)	S490T	probably damaging	Het
Vmn1r86	T	A	7: 12,836,741 (GRCm39)	D45V	probably damaging	Het
Wdr12	A	G	1: 60,127,226 (GRCm39)	V143A	possibly damaging	Het
Zbtb18	T	A	1: 177,274,989 (GRCm39)	Y116*	probably null	Het
Zdbf2	C	T	1: 63,342,536 (GRCm39)	T305I	possibly damaging	Het
Zfp384	T	A	6: 125,007,802 (GRCm39)	M244K	possibly damaging	Het
Zfp423	A	T	8: 88,414,595 (GRCm39)	V1241D	probably damaging	Het
Zfp574	A	G	7: 24,780,640 (GRCm39)	Y554C	probably damaging	Het
Zfp616	T	C	11: 73,976,220 (GRCm39)	S830P	probably damaging	Het
Zfp839	A	G	12: 110,834,776 (GRCm39)	Y677C	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
R0137:6430548M08Rik	UTSW	8	120,878,115 (GRCm39)	missense	possibly damaging	0.87
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

Predicted Primers

PCR Primer
(F):5'- AAGGCTGCAGAAAGCTTCGTG -3'
(R):5'- ACAATGGTCCCCATGGAGAG -3'

Sequencing Primer
(F):5'- CAGAAAGCTTCGTGGAGTTTGGAC -3'
(R):5'- CCATGGAGAGTCAGATGTCTTCAC -3'

Posted On

2022-09-12