Mutagenetix > Incidental Mutations

Incidental Mutation 'R8368:1110034G24Rik'

646240

Institutional Source

Beutler Lab

Gene Symbol

1110034G24Rik

Ensembl Gene

ENSMUSG00000044991

Gene Name

RIKEN cDNA 1110034G24 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132686931-132751055 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132750513 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 160 (I160T)

Ref Sequence

ENSEMBL: ENSMUSP00000057009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061891] [ENSMUST00000110132] [ENSMUST00000148271]

Predicted Effect

probably benign
Transcript: ENSMUST00000061891
AA Change: I160T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057009
Gene: ENSMUSG00000044991
AA Change: I160T

Domain	Start	End	E-Value	Type
Pfam:DUF4521	1	206	2.3e-110	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110132
AA Change: I160T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105759
Gene: ENSMUSG00000044991
AA Change: I160T

Domain	Start	End	E-Value	Type
Pfam:DUF4521	1	204	3.4e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148271

SMART Domains

Protein: ENSMUSP00000118968
Gene: ENSMUSG00000044991

Domain	Start	End	E-Value	Type
Pfam:DUF4521	1	156	6e-80	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	T	15: 76,735,255	S710T	probably damaging	Het
Asb10	A	C	5: 24,539,617	I193S	probably benign	Het
C2cd6	A	G	1: 59,094,661	L67P	probably benign	Het
Ccdc14	T	C	16: 34,723,372	L748P	probably benign	Het
Cers4	T	G	8: 4,515,698	V48G	probably benign	Het
Chrna10	T	C	7: 102,115,016	T54A	probably benign	Het
Dip2b	T	C	15: 100,154,243	S242P	probably benign	Het
Fam151a	A	G	4: 106,746,993	T325A	probably benign	Het
Gm10697	A	G	3: 94,072,586	F20S	probably damaging	Het
Gm21190	A	T	5: 15,524,850	S257T	possibly damaging	Het
Gm49368	T	C	7: 128,114,749	S909P	probably benign	Het
Gm5150	C	A	3: 15,990,738	V108F	probably damaging	Het
Gsdmc2	G	A	15: 63,825,053	T423I	probably damaging	Het
Hsf2	T	A	10: 57,512,145	C501S	probably damaging	Het
Igf1r	A	G	7: 68,187,048	N551D	probably benign	Het
Kctd3	G	A	1: 188,972,207	T789I	probably benign	Het
Lad1	A	G	1: 135,831,526	E474G	probably damaging	Het
Lfng	G	A	5: 140,613,226	E297K	probably damaging	Het
Magi3	A	T	3: 104,095,063		probably null	Het
Nrd1	A	G	4: 109,013,698	D174G	probably benign	Het
Nrxn3	T	A	12: 90,332,041	Y445*	probably null	Het
Otol1	A	G	3: 70,027,866	Y397C	probably damaging	Het
Pkd2	G	T	5: 104,459,787	E51*	probably null	Het
Pqlc1	T	C	18: 80,291,658	S231P	probably benign	Het
Rad21l	A	G	2: 151,653,470	V431A	probably benign	Het
Rad50	A	G	11: 53,683,328	L694S	possibly damaging	Het
Rasal1	A	G	5: 120,671,550	S507G	probably damaging	Het
Ros1	T	A	10: 52,064,737	D2162V	probably damaging	Het
Samd7	A	T	3: 30,765,425	D441V	probably damaging	Het
Senp1	T	C	15: 98,045,374	S623G	probably damaging	Het
Slc23a3	G	T	1: 75,129,637	P313T	probably damaging	Het
Stab1	T	C	14: 31,148,411	D1320G	possibly damaging	Het
Tinf2	T	C	14: 55,679,573	T372A	probably damaging	Het
Trim45	A	G	3: 100,923,356	T149A	possibly damaging	Het
Trim63	TGAGGAGGAGGAGGAGGAGGAG	TGAGGAGGAGGAGGAGGAG	4: 134,327,706		probably benign	Het
Unc13c	C	T	9: 73,930,788	S927N	probably benign	Het
Uqcrfs1	C	A	13: 30,540,816	G247V	probably damaging	Het
Zfp143	A	T	7: 110,083,248	N342I	probably damaging	Het

Other mutations in 1110034G24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02207:1110034G24Rik	APN	2	132691946	splice site	probably benign
R0243:1110034G24Rik	UTSW	2	132750639	missense	probably benign	0.01
R1275:1110034G24Rik	UTSW	2	132692095	missense	probably benign
R2518:1110034G24Rik	UTSW	2	132750527	missense	probably damaging	0.99
R6903:1110034G24Rik	UTSW	2	132750644	nonsense	probably null
R7840:1110034G24Rik	UTSW	2	132750590	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTATGAAGCATTTGCCCATCCAC -3'
(R):5'- ATGCCAGAGAAGCCCACATG -3'

Sequencing Primer
(F):5'- ATCCACTGCCAGGCTCTG -3'
(R):5'- ATGTACCCATGGACTCTGGG -3'

Posted On

2020-09-02