Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02159:2210010C04Rik'

282369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2210010C04Rik

Ensembl Gene

ENSMUSG00000029882

Gene Name

RIKEN cDNA 2210010C04 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02159

Quality Score

Status

Chromosome

Chromosomal Location

41030268-41035509 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41032957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 148 (T148A)

Ref Sequence

ENSEMBL: ENSMUSP00000031931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031931]

AlphaFold

Q9CPN9

Predicted Effect

probably benign
Transcript: ENSMUST00000031931
AA Change: T148A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031931
Gene: ENSMUSG00000029882
AA Change: T148A

Domain	Start	End	E-Value	Type
Tryp_SPc	24	240	3.52e-102	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,610,665	L257S	probably damaging	Het
Abca13	A	G	11: 9,314,545	S2976G	probably benign	Het
Afmid	T	C	11: 117,836,426	W267R	probably damaging	Het
Ahi1	A	G	10: 21,058,177	K969R	probably benign	Het
Aldh1l1	A	G	6: 90,594,656		probably benign	Het
Ank3	A	G	10: 69,808,892	H62R	probably damaging	Het
Arid2	T	C	15: 96,358,912		probably benign	Het
BC030867	G	A	11: 102,260,165		probably null	Het
Caps2	G	A	10: 112,204,023	V457M	probably benign	Het
Capza1	T	C	3: 104,864,371	D3G	possibly damaging	Het
Cav1	T	A	6: 17,307,972	V41E	possibly damaging	Het
Celf2	G	T	2: 6,604,177	C264*	probably null	Het
Clec4a2	C	T	6: 123,139,326	S150L	probably benign	Het
D7Ertd443e	A	T	7: 134,349,400	D181E	possibly damaging	Het
Epyc	A	G	10: 97,670,631	E100G	probably benign	Het
Hdac11	A	G	6: 91,173,102	I294M	probably damaging	Het
Hsdl1	A	G	8: 119,566,414	V73A	probably benign	Het
Kmt2c	A	T	5: 25,311,343	S2501T	probably benign	Het
Lrrc41	T	A	4: 116,088,486	F133I	probably benign	Het
Map3k19	C	A	1: 127,823,170	G815C	probably benign	Het
Muc13	C	A	16: 33,799,479	T199K	unknown	Het
Nif3l1	G	T	1: 58,447,946		probably null	Het
Nlrp12	A	T	7: 3,249,545		probably benign	Het
Nup205	T	C	6: 35,189,178	S244P	probably damaging	Het
Olfr1353	A	T	10: 78,969,901	N84I	probably damaging	Het
Parl	G	A	16: 20,280,088		probably benign	Het
Pax8	A	G	2: 24,440,788	I211T	possibly damaging	Het
Pglyrp4	A	G	3: 90,730,853	E158G	possibly damaging	Het
Plekhm1	A	G	11: 103,380,231	L478P	probably benign	Het
Serpina1a	C	T	12: 103,854,706	G338R	probably damaging	Het
Serpina5	T	C	12: 104,105,298	L388P	possibly damaging	Het
Sorbs1	A	G	19: 40,327,596	V367A	probably damaging	Het
Srgap2	A	G	1: 131,319,666		probably benign	Het
Surf1	A	G	2: 26,915,651	L26P	probably damaging	Het
Taf4	A	G	2: 179,938,470	S486P	probably benign	Het
Tdrd6	A	T	17: 43,628,390	V589E	probably damaging	Het
Tuba3b	T	G	6: 145,619,666	S287A	probably benign	Het
Txnrd3	G	A	6: 89,669,324	R295H	probably damaging	Het
Ubr5	G	T	15: 37,991,379		probably benign	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Usp32	A	G	11: 85,005,802		probably null	Het
Utp23	G	A	15: 51,882,365	R87K	probably benign	Het
Vps8	T	C	16: 21,466,484	I405T	possibly damaging	Het

Other mutations in 2210010C04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:2210010C04Rik	APN	6	41031673	missense	probably damaging	1.00
IGL01625:2210010C04Rik	APN	6	41032948	missense	probably benign	0.01
IGL03161:2210010C04Rik	APN	6	41034306	missense	probably damaging	0.96
R0419:2210010C04Rik	UTSW	6	41034347	missense	probably benign	0.05
R1715:2210010C04Rik	UTSW	6	41032936	splice site	probably null
R2057:2210010C04Rik	UTSW	6	41032381	missense	probably benign	0.06
R2059:2210010C04Rik	UTSW	6	41032381	missense	probably benign	0.06
R2136:2210010C04Rik	UTSW	6	41035462	missense	probably benign	0.28
R2446:2210010C04Rik	UTSW	6	41031648	missense	probably benign	0.15
R4862:2210010C04Rik	UTSW	6	41032411	missense	possibly damaging	0.74
R5068:2210010C04Rik	UTSW	6	41032436	missense	probably benign	0.35
R5369:2210010C04Rik	UTSW	6	41033006	missense	probably benign	0.00
R6392:2210010C04Rik	UTSW	6	41032372	missense	probably damaging	1.00
R7010:2210010C04Rik	UTSW	6	41032313	missense	probably benign	0.42
R7567:2210010C04Rik	UTSW	6	41033193	missense	probably benign	0.04
R7727:2210010C04Rik	UTSW	6	41033193	missense	probably benign	0.04
R7962:2210010C04Rik	UTSW	6	41035453	missense	probably benign	0.01
R8373:2210010C04Rik	UTSW	6	41031688	missense	possibly damaging	0.53
R8529:2210010C04Rik	UTSW	6	41032435	missense	probably benign	0.00
R8883:2210010C04Rik	UTSW	6	41032371	nonsense	probably null
R8916:2210010C04Rik	UTSW	6	41033169	missense	probably damaging	1.00
R9066:2210010C04Rik	UTSW	6	41031706	missense	probably benign	0.41
R9095:2210010C04Rik	UTSW	6	41033104	missense	possibly damaging	0.76
R9180:2210010C04Rik	UTSW	6	41031747	missense	probably damaging	1.00
R9389:2210010C04Rik	UTSW	6	41033145	missense	probably benign	0.02

Posted On

2015-04-16