Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:4932438H23Rik'

180582

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4932438H23Rik

Ensembl Gene

ENSMUSG00000039851

Gene Name

RIKEN cDNA 4932438H23 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

90841534-90866040 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90852753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 128 (T128S)

Ref Sequence

ENSEMBL: ENSMUSP00000109710 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035689
AA Change: T128S

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

SMART Domains

Protein: ENSMUSP00000040111
Gene: ENSMUSG00000039851
AA Change: T128S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114076
AA Change: T128S

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

SMART Domains

Protein: ENSMUSP00000109710
Gene: ENSMUSG00000039851
AA Change: T128S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146047
AA Change: T128S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122640
Gene: ENSMUSG00000039851
AA Change: T128S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147848

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gfap	G	A	11: 102,785,286 (GRCm39)	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Ipp	C	A	4: 116,367,852 (GRCm39)	N28K	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Man1b1	T	C	2: 25,235,523 (GRCm39)	S350P	probably benign	Het
Mfsd4a	T	C	1: 131,974,049 (GRCm39)	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,301,555 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Or5p69	A	G	7: 107,967,368 (GRCm39)	I224V	probably damaging	Het
Parva	T	A	7: 112,187,760 (GRCm39)	C352*	probably null	Het
Ptf1a	T	A	2: 19,451,431 (GRCm39)	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,708,424 (GRCm39)	S229P	probably benign	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zfp236	A	T	18: 82,651,245 (GRCm39)	V889E	probably damaging	Het
Zscan20	T	C	4: 128,486,277 (GRCm39)	D141G	possibly 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
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
R0932:4932438H23Rik	UTSW	16	90,852,995 (GRCm39)	missense	probably benign	0.00
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

Posted On

2014-05-07