Mutagenetix > Incidental Mutation

Incidental Mutation 'R0932:4932438H23Rik'

81006

Institutional Source

Beutler Lab

Gene Symbol

4932438H23Rik

Ensembl Gene

ENSMUSG00000039851

Gene Name

RIKEN cDNA 4932438H23 gene

Synonyms

MMRRC Submission

039076-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0932 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90841534-90866040 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90852995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 47 (N47S)

Ref Sequence

ENSEMBL: ENSMUSP00000122640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035689] [ENSMUST00000114076] [ENSMUST00000146047]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035689
AA Change: N47S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040111
Gene: ENSMUSG00000039851
AA Change: N47S

Domain	Start	End	E-Value	Type
Pfam:DUF4571	19	230	8.6e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114076
AA Change: N47S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109710
Gene: ENSMUSG00000039851
AA Change: N47S

Domain	Start	End	E-Value	Type
Pfam:DUF4571	20	230	2.2e-103	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146047
AA Change: N47S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000122640
Gene: ENSMUSG00000039851
AA Change: N47S

Domain	Start	End	E-Value	Type
Pfam:DUF4571	19	136	4.1e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147848

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.2%
20x: 97.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	C	1: 130,665,430 (GRCm39)		probably null	Het
Akap9	T	A	5: 4,096,492 (GRCm39)	C2456S	possibly damaging	Het
Anks3	C	T	16: 4,771,691 (GRCm39)	R111H	probably damaging	Het
Atp1a3	A	T	7: 24,687,401 (GRCm39)		probably null	Het
Bahd1	T	C	2: 118,746,408 (GRCm39)	L9P	probably damaging	Het
Capn12	T	C	7: 28,587,123 (GRCm39)	V364A	possibly damaging	Het
Cds1	T	A	5: 101,944,891 (GRCm39)	C122S	probably damaging	Het
Cenpc1	T	C	5: 86,185,459 (GRCm39)	T351A	possibly damaging	Het
Cuzd1	T	C	7: 130,921,923 (GRCm39)		probably benign	Het
Daxx	T	C	17: 34,129,635 (GRCm39)	L72P	probably damaging	Het
Depdc1b	A	G	13: 108,523,369 (GRCm39)	I415V	probably benign	Het
Dlg2	T	C	7: 92,024,845 (GRCm39)	V675A	probably damaging	Het
Dtx4	A	G	19: 12,469,515 (GRCm39)	V204A	probably benign	Het
Ganc	T	C	2: 120,288,610 (GRCm39)	V872A	probably damaging	Het
Gm14403	A	T	2: 177,198,810 (GRCm39)	R38W	probably benign	Het
Gm4553	T	C	7: 141,719,423 (GRCm39)	S2G	unknown	Het
Gm8159	G	A	14: 4,635,226 (GRCm38)	R148H	possibly damaging	Het
Gsdmc3	T	C	15: 63,730,400 (GRCm39)		probably null	Het
Ibtk	C	T	9: 85,617,099 (GRCm39)	G158R	probably damaging	Het
Irx2	T	A	13: 72,779,675 (GRCm39)	S320T	possibly damaging	Het
Kctd7	A	T	5: 130,180,510 (GRCm39)		probably null	Het
Kdr	T	C	5: 76,129,465 (GRCm39)	T141A	probably benign	Het
Krt25	T	A	11: 99,212,109 (GRCm39)	Q176L	possibly damaging	Het
Krt71	T	C	15: 101,645,195 (GRCm39)	N372S	probably benign	Het
Mllt3	A	G	4: 87,707,621 (GRCm39)	V446A	probably damaging	Het
Or1j21	T	A	2: 36,683,903 (GRCm39)	Y218*	probably null	Het
Or4k38	A	T	2: 111,165,543 (GRCm39)	D293E	probably benign	Het
Or5p4	C	T	7: 107,680,727 (GRCm39)	T242M	probably damaging	Het
Or5p52	A	C	7: 107,502,397 (GRCm39)	T158P	possibly damaging	Het
Or9e1	T	C	11: 58,732,540 (GRCm39)	V200A	possibly damaging	Het
Poldip2	T	C	11: 78,403,294 (GRCm39)	S18P	possibly damaging	Het
Ptprd	T	G	4: 76,055,122 (GRCm39)	Q193P	probably damaging	Het
Reck	C	T	4: 43,922,838 (GRCm39)	T371M	possibly damaging	Het
Rnf144b	G	T	13: 47,374,001 (GRCm39)	R66L	probably null	Het
Rpn2	T	A	2: 157,125,691 (GRCm39)	D67E	possibly damaging	Het
Scn11a	A	G	9: 119,636,876 (GRCm39)	F275S	probably damaging	Het
Slc12a5	G	A	2: 164,838,805 (GRCm39)		probably benign	Het
Snapc4	A	G	2: 26,264,658 (GRCm39)	I253T	probably damaging	Het
Tppp2	C	T	14: 52,157,881 (GRCm39)		probably benign	Het
Usp9y	A	C	Y: 1,315,930 (GRCm39)	N2068K	probably benign	Het
Vmn2r45	A	G	7: 8,478,380 (GRCm39)	C536R	probably damaging	Het

Other mutations in 4932438H23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00686:4932438H23Rik	APN	16	90,852,489 (GRCm39)	missense	possibly damaging	0.90
IGL01934:4932438H23Rik	APN	16	90,852,753 (GRCm39)	missense	probably damaging	1.00
IGL02060:4932438H23Rik	APN	16	90,852,603 (GRCm39)	missense	probably damaging	0.99
IGL02244:4932438H23Rik	APN	16	90,853,085 (GRCm39)	missense	probably benign	0.23
IGL02623:4932438H23Rik	APN	16	90,853,032 (GRCm39)	missense	probably benign	0.02
PIT4810001:4932438H23Rik	UTSW	16	90,852,822 (GRCm39)	missense	probably damaging	1.00
R0135:4932438H23Rik	UTSW	16	90,852,515 (GRCm39)	missense	probably damaging	0.99
R4591:4932438H23Rik	UTSW	16	90,852,959 (GRCm39)	missense	probably damaging	0.99
R6472:4932438H23Rik	UTSW	16	90,852,891 (GRCm39)	missense	probably benign	0.00
R6513:4932438H23Rik	UTSW	16	90,852,654 (GRCm39)	missense	probably benign	0.00
R7067:4932438H23Rik	UTSW	16	90,852,921 (GRCm39)	missense	probably damaging	1.00
R7472:4932438H23Rik	UTSW	16	90,852,744 (GRCm39)	missense	probably benign	0.06
R8369:4932438H23Rik	UTSW	16	90,852,657 (GRCm39)	missense	probably benign	0.07
R8469:4932438H23Rik	UTSW	16	90,852,797 (GRCm39)	missense	probably damaging	1.00
R8508:4932438H23Rik	UTSW	16	90,852,500 (GRCm39)	missense	probably damaging	1.00
R8680:4932438H23Rik	UTSW	16	90,852,551 (GRCm39)	missense	probably damaging	1.00
R8884:4932438H23Rik	UTSW	16	90,852,737 (GRCm39)	missense	probably damaging	1.00
R9166:4932438H23Rik	UTSW	16	90,853,046 (GRCm39)	missense	possibly damaging	0.94
R9335:4932438H23Rik	UTSW	16	90,852,830 (GRCm39)	missense	probably damaging	1.00
R9390:4932438H23Rik	UTSW	16	90,853,096 (GRCm39)	missense	probably benign	0.23
Z1088:4932438H23Rik	UTSW	16	90,852,701 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCTTAGTATGGATGCGAAGCCTC -3'
(R):5'- AGGTGACCTACAATGGACTGGCTC -3'

Sequencing Primer
(F):5'- AGTCTTGGACCAGAGTGAACTTC -3'
(R):5'- TCATGAGGGAGAAACAGGAACAC -3'

Posted On

2013-11-07