Mutagenetix > Incidental Mutation

Incidental Mutation 'R4328:Gm3336'

324469

Institutional Source

Beutler Lab

Gene Symbol

Gm3336

Ensembl Gene

ENSMUSG00000095026

Gene Name

predicted gene 3336

Synonyms

2410018E23Rik

MMRRC Submission

041098-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R4328 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71171192-71175283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71173234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 82 (T82I)

Ref Sequence

ENSEMBL: ENSMUSP00000136399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034307] [ENSMUST00000110095] [ENSMUST00000123739] [ENSMUST00000179347] [ENSMUST00000212436] [ENSMUST00000213065]

AlphaFold

J3QMQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000034307

SMART Domains

Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
HDc	386	512	1.48e0	SMART
Pfam:PDEase_I	526	598	5.3e-21	PFAM
low complexity region	625	636	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110095

SMART Domains

Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
HDc	386	561	5.11e-6	SMART
low complexity region	659	670	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123739

SMART Domains

Protein: ENSMUSP00000119312
Gene: ENSMUSG00000031842

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179347
AA Change: T82I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136399
Gene: ENSMUSG00000095026
AA Change: T82I

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	45	71	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
transmembrane domain	143	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212436

Predicted Effect

probably benign
Transcript: ENSMUST00000213065

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300009A05Rik	T	C	9: 63,306,238 (GRCm39)	K89R	probably damaging	Het
Aadacl4fm2	T	A	4: 144,282,164 (GRCm39)	K209N	possibly damaging	Het
Alcam	T	C	16: 52,073,579 (GRCm39)	N549S	possibly damaging	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Bin3	A	G	14: 70,356,054 (GRCm39)	I4V	probably benign	Het
Brd10	G	T	19: 29,720,961 (GRCm39)	T688K	probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Cd55	C	T	1: 130,375,104 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,380,220 (GRCm39)	C253S	probably damaging	Het
Col12a1	T	A	9: 79,607,671 (GRCm39)	T386S	possibly damaging	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Crym	C	T	7: 119,794,562 (GRCm39)	G219E	probably damaging	Het
Cwf19l2	A	T	9: 3,458,878 (GRCm39)	I776F	probably damaging	Het
Eif1ad16	T	A	12: 87,985,285 (GRCm39)	D86V	possibly damaging	Het
Erlec1	C	T	11: 30,899,972 (GRCm39)	E166K	probably benign	Het
Gm3604	A	T	13: 62,517,079 (GRCm39)	S425R	possibly damaging	Het
Gpn2	T	C	4: 133,315,919 (GRCm39)	V203A	probably benign	Het
Gskip	T	C	12: 105,666,960 (GRCm39)	Y113H	probably damaging	Het
Hcn2	T	C	10: 79,560,445 (GRCm39)	Y259H	probably damaging	Het
Hira	C	A	16: 18,715,362 (GRCm39)	Q87K	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kirrel1	T	C	3: 86,992,081 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,607,956 (GRCm39)	D372G	probably benign	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Ly6e	C	A	15: 74,830,370 (GRCm39)	N73K	probably damaging	Het
Med12l	T	C	3: 59,172,688 (GRCm39)	S1813P	probably benign	Het
Med24	A	G	11: 98,597,942 (GRCm39)		probably null	Het
Niban1	T	C	1: 151,512,169 (GRCm39)	S24P	possibly damaging	Het
Nup210l	C	A	3: 90,083,142 (GRCm39)		probably null	Het
Or2t1	T	A	14: 14,328,193 (GRCm38)	F27L	probably damaging	Het
Or5w12	C	A	2: 87,502,008 (GRCm39)	R234S	possibly damaging	Het
Or7g34	T	A	9: 19,478,318 (GRCm39)	M121L	possibly damaging	Het
Or8d1	T	C	9: 38,767,132 (GRCm39)	M258T	possibly damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Pak3	T	C	X: 142,516,205 (GRCm39)		probably null	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Pax8	A	G	2: 24,331,663 (GRCm39)	F140S	possibly damaging	Het
Ppargc1b	A	T	18: 61,515,540 (GRCm39)	C34*	probably null	Het
Ppp3cb	A	T	14: 20,581,016 (GRCm39)	I136K	probably damaging	Het
Prep	T	C	10: 44,996,745 (GRCm39)	V341A	probably benign	Het
Prickle4	C	A	17: 47,999,543 (GRCm39)	G337C	probably damaging	Het
Rabgap1	T	A	2: 37,422,627 (GRCm39)	Y627N	probably damaging	Het
Ryr1	T	C	7: 28,782,484 (GRCm39)	Y1953C	probably damaging	Het
Snrnp200	T	A	2: 127,064,137 (GRCm39)	V708D	probably damaging	Het
Tent5b	C	T	4: 133,213,914 (GRCm39)	Q262*	probably null	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem62	T	A	2: 120,810,991 (GRCm39)	N156K	probably damaging	Het
Ttyh1	A	T	7: 4,133,580 (GRCm39)	D295V	probably damaging	Het
Twsg1	T	C	17: 66,255,733 (GRCm39)	T14A	probably benign	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp239	T	C	6: 117,848,745 (GRCm39)	L161P	probably damaging	Het
Zpbp2	A	G	11: 98,448,432 (GRCm39)	T199A	probably benign	Het

Other mutations in Gm3336

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0375:Gm3336	UTSW	8	71,171,294 (GRCm39)	splice site	probably benign
R1824:Gm3336	UTSW	8	71,173,066 (GRCm39)	splice site	probably null
R2156:Gm3336	UTSW	8	71,174,509 (GRCm39)	missense	probably benign	0.01
R2901:Gm3336	UTSW	8	71,173,275 (GRCm39)	missense	possibly damaging	0.83
R4200:Gm3336	UTSW	8	71,173,261 (GRCm39)	missense	probably benign	0.24
R5171:Gm3336	UTSW	8	71,174,524 (GRCm39)	missense	probably benign	0.01
R5180:Gm3336	UTSW	8	71,173,110 (GRCm39)	intron	probably benign
R7128:Gm3336	UTSW	8	71,171,203 (GRCm39)	start codon destroyed	probably null
R7985:Gm3336	UTSW	8	71,173,176 (GRCm39)	missense	unknown
R7996:Gm3336	UTSW	8	71,173,146 (GRCm39)	missense	unknown
R8955:Gm3336	UTSW	8	71,174,545 (GRCm39)	nonsense	probably null
R9036:Gm3336	UTSW	8	71,173,069 (GRCm39)	missense	unknown
R9456:Gm3336	UTSW	8	71,174,740 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCATTCGCAAGCTTCATAGAC -3'
(R):5'- TTCAGAACTGCTGTCAGATTTCAG -3'

Sequencing Primer
(F):5'- TTCGCAAGCTTCATAGACACATATC -3'
(R):5'- GGCTGGCCTTGAACTCAGAAATC -3'

Posted On

2015-06-24