Mutagenetix > Incidental Mutation

Incidental Mutation 'R4332:4933405L10Rik'

323635

Institutional Source

Beutler Lab

Gene Symbol

4933405L10Rik

Ensembl Gene

ENSMUSG00000013158

Gene Name

RIKEN cDNA 4933405L10 gene

Synonyms

MMRRC Submission

041099-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106434921-106436877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106436356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 175 (I175T)

Ref Sequence

ENSEMBL: ENSMUSP00000148838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013294] [ENSMUST00000013299] [ENSMUST00000013302] [ENSMUST00000211852] [ENSMUST00000212061]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000013294

SMART Domains

Protein: ENSMUSP00000013294
Gene: ENSMUSG00000013150

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	6	119	3.7e-14	PFAM
low complexity region	169	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000013299

SMART Domains

Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

Domain	Start	End	E-Value	Type
low complexity region	220	236	N/A	INTRINSIC
Pfam:Enkurin	243	339	6.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000013302
AA Change: I184T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000013302
Gene: ENSMUSG00000013158
AA Change: I184T

Domain	Start	End	E-Value	Type
Pfam:DUF4691	1	162	3.3e-71	PFAM
low complexity region	200	216	N/A	INTRINSIC
low complexity region	252	275	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211852
AA Change: I175T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212716

Meta Mutation Damage Score

0.1795

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,634,406 (GRCm39)	D646G	probably benign	Het
Acat2	T	C	17: 13,181,782 (GRCm39)		probably benign	Het
Armc10	T	A	5: 21,866,579 (GRCm39)	V281E	probably damaging	Het
Best3	T	A	10: 116,838,429 (GRCm39)	F162L	probably benign	Het
Ces1g	T	C	8: 94,046,446 (GRCm39)	M360V	probably benign	Het
Chd7	G	T	4: 8,854,143 (GRCm39)	R1905L	probably damaging	Het
Dhx36	C	T	3: 62,392,412 (GRCm39)	R538Q	probably damaging	Het
Efna2	G	A	10: 80,024,315 (GRCm39)	R161Q	probably damaging	Het
Farsb	T	C	1: 78,445,903 (GRCm39)	T159A	possibly damaging	Het
Fry	C	T	5: 150,305,128 (GRCm39)	A611V	probably damaging	Het
Fsip2	A	G	2: 82,808,201 (GRCm39)	T1507A	probably benign	Het
Gm5592	G	T	7: 40,865,542 (GRCm39)		probably benign	Het
Gm7367	T	C	7: 59,805,364 (GRCm39)		noncoding transcript	Het
Gm9312	A	T	12: 24,302,095 (GRCm39)		noncoding transcript	Het
Gmfg	A	T	7: 28,136,997 (GRCm39)	M1L	probably benign	Het
Gpr149	C	A	3: 62,511,794 (GRCm39)	L68F	possibly damaging	Het
Hmga2	T	C	10: 120,200,117 (GRCm39)		probably benign	Het
Il12a	C	A	3: 68,602,594 (GRCm39)		probably benign	Het
Itprid1	G	A	6: 55,945,220 (GRCm39)	G647D	possibly damaging	Het
Itsn2	T	A	12: 4,762,611 (GRCm39)	M1597K	possibly damaging	Het
Kyat3	A	G	3: 142,431,187 (GRCm39)	I154M	probably damaging	Het
Npas3	A	C	12: 54,108,852 (GRCm39)	I419L	probably damaging	Het
Ogfrl1	T	A	1: 23,414,910 (GRCm39)	Y199F	probably damaging	Het
Or14a259	A	C	7: 86,013,080 (GRCm39)	V155G	probably benign	Het
Or5aq7	A	G	2: 86,938,089 (GRCm39)	V214A	possibly damaging	Het
Or6b6	T	C	7: 106,571,354 (GRCm39)	M66V	probably benign	Het
P2rx3	G	A	2: 84,855,205 (GRCm39)	P84S	probably benign	Het
P3h3	A	G	6: 124,819,099 (GRCm39)	V657A	probably damaging	Het
Pabpc2	A	G	18: 39,908,393 (GRCm39)	M553V	probably benign	Het
Pcdhb1	T	C	18: 37,398,583 (GRCm39)	F178S	probably damaging	Het
Plppr4	A	T	3: 117,116,474 (GRCm39)	M403K	probably benign	Het
Ralgapa2	G	A	2: 146,102,288 (GRCm39)	T1956M	probably benign	Het
Rbm12b1	G	T	4: 12,145,655 (GRCm39)	K542N	probably benign	Het
Rdh8	C	T	9: 20,733,925 (GRCm39)	A37V	probably damaging	Het
Rnf213	A	G	11: 119,327,502 (GRCm39)	T1830A	probably damaging	Het
Sardh	G	T	2: 27,105,126 (GRCm39)	Q666K	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin4	T	G	11: 87,458,730 (GRCm39)	L368R	possibly damaging	Het
Serpinb11	G	A	1: 107,297,294 (GRCm39)		probably null	Het
Slc6a6	G	A	6: 91,700,452 (GRCm39)	G60D	probably damaging	Het
Tfr2	A	G	5: 137,569,996 (GRCm39)	D134G	probably damaging	Het
Tmprss15	T	C	16: 78,831,222 (GRCm39)	T378A	probably benign	Het
Tmprss7	T	G	16: 45,506,690 (GRCm39)	K124T	probably benign	Het
Urb1	A	G	16: 90,571,425 (GRCm39)	L1128P	probably damaging	Het
Usp32	C	T	11: 84,994,804 (GRCm39)	C36Y	possibly damaging	Het
Vmn2r50	T	A	7: 9,786,922 (GRCm39)	T62S	probably benign	Het
Zfp110	T	A	7: 12,578,498 (GRCm39)	Y136*	probably null	Het

Other mutations in 4933405L10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01738:4933405L10Rik	APN	8	106,436,668 (GRCm39)	missense	probably damaging	0.98
IGL01845:4933405L10Rik	APN	8	106,435,567 (GRCm39)	missense	probably benign
R0096:4933405L10Rik	UTSW	8	106,435,563 (GRCm39)	splice site	probably null
R0096:4933405L10Rik	UTSW	8	106,435,563 (GRCm39)	splice site	probably null
R0396:4933405L10Rik	UTSW	8	106,436,412 (GRCm39)	missense	probably benign	0.06
R0711:4933405L10Rik	UTSW	8	106,435,563 (GRCm39)	splice site	probably null
R1037:4933405L10Rik	UTSW	8	106,436,144 (GRCm39)	missense	probably benign	0.32
R1816:4933405L10Rik	UTSW	8	106,436,491 (GRCm39)	missense	possibly damaging	0.50
R1843:4933405L10Rik	UTSW	8	106,435,606 (GRCm39)	missense	probably damaging	0.98
R4868:4933405L10Rik	UTSW	8	106,436,729 (GRCm39)	makesense	probably null
R5072:4933405L10Rik	UTSW	8	106,436,201 (GRCm39)	missense	possibly damaging	0.71
R5285:4933405L10Rik	UTSW	8	106,435,097 (GRCm39)	missense	probably benign
R5656:4933405L10Rik	UTSW	8	106,436,144 (GRCm39)	missense	probably benign	0.32
R6196:4933405L10Rik	UTSW	8	106,436,554 (GRCm39)	missense	possibly damaging	0.92
R6524:4933405L10Rik	UTSW	8	106,435,641 (GRCm39)	missense	possibly damaging	0.71
R6657:4933405L10Rik	UTSW	8	106,435,450 (GRCm39)	missense	probably damaging	0.98
R9578:4933405L10Rik	UTSW	8	106,436,505 (GRCm39)	missense	probably damaging	0.99
R9651:4933405L10Rik	UTSW	8	106,436,604 (GRCm39)	missense
Z1088:4933405L10Rik	UTSW	8	106,436,395 (GRCm39)	missense	probably damaging	1.00
Z1177:4933405L10Rik	UTSW	8	106,436,607 (GRCm39)	missense	possibly damaging	0.73
Z1177:4933405L10Rik	UTSW	8	106,436,605 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CTCACTGTCCTCGAAACAGC -3'
(R):5'- CACTAACGGATTAGGGCAGG -3'

Sequencing Primer
(F):5'- CCAAGAAACGCAAGAGTGGC -3'
(R):5'- CAGGGTAAAGCAAGGCCTAAGC -3'

Posted On

2015-06-24