Mutagenetix > Incidental Mutation

Incidental Mutation 'R8373:2210010C04Rik'

646536

Institutional Source

Beutler Lab

Gene Symbol

2210010C04Rik

Ensembl Gene

ENSMUSG00000029882

Gene Name

RIKEN cDNA 2210010C04 gene

Synonyms

MMRRC Submission

067741-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R8373 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41030268-41035509 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 41031688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 231 (T231P)

Ref Sequence

ENSEMBL: ENSMUSP00000031931 (fasta)

Gene Model

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

AlphaFold

Q9CPN9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031931
AA Change: T231P

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031931
Gene: ENSMUSG00000029882
AA Change: T231P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	T	C	10: 14,467,334	T290A	probably benign	Het
Aff4	C	T	11: 53,400,267	Q685*	probably null	Het
Ankmy1	A	G	1: 92,896,094	M150T	probably damaging	Het
Armc1	T	C	3: 19,149,567	Y65C	probably damaging	Het
Armc8	A	G	9: 99,527,099	V222A	probably benign	Het
Bcar1	A	T	8: 111,715,738	Y228*	probably null	Het
Cct2	T	C	10: 117,060,824	D158G	possibly damaging	Het
Cul1	T	A	6: 47,515,063	C426S	possibly damaging	Het
Deup1	G	T	9: 15,592,375	L297M	possibly damaging	Het
Dpp10	A	G	1: 123,854,229	S74P	possibly damaging	Het
Epha4	A	G	1: 77,507,079	Y98H	possibly damaging	Het
Epn3	T	G	11: 94,492,936	D296A	probably damaging	Het
Eri2	A	C	7: 119,772,597	I252S	probably benign	Het
Gm14025	T	A	2: 129,038,171	I612F		Het
Gp9	C	T	6: 87,779,012	T3I	probably benign	Het
H2-Q5	T	A	17: 35,394,456	V55E		Het
Kif3c	G	T	12: 3,366,089	V37L	probably benign	Het
Lct	A	T	1: 128,303,840	N757K	probably damaging	Het
Lhx8	A	C	3: 154,324,658	N112K	probably damaging	Het
Loxl3	T	A	6: 83,048,891	S373R	possibly damaging	Het
Mettl4	G	A	17: 94,733,649	T359I	probably damaging	Het
Mpp7	A	G	18: 7,444,096	S109P	probably damaging	Het
Nckap5	A	G	1: 126,026,295	V840A	probably benign	Het
Ncoa4	T	A	14: 32,176,936	L571Q	probably damaging	Het
Olfr453	T	C	6: 42,744,346	F103S	probably damaging	Het
Olfr46	A	T	7: 140,610,295	Y35F	possibly damaging	Het
Phgdh	G	A	3: 98,321,245	T204I	probably damaging	Het
Pla2g4d	C	T	2: 120,277,499	V310M	probably null	Het
Psmd12	C	T	11: 107,497,624	P421L	probably damaging	Het
Ptch1	A	G	13: 63,541,168	Y432H	probably damaging	Het
Rapgef1	G	A	2: 29,710,231	G655S	probably damaging	Het
Rilpl2	C	A	5: 124,478,034	A18S	probably damaging	Het
Srsf7	T	C	17: 80,205,386	R88G	probably benign	Het
St6galnac1	T	C	11: 116,769,233	K85E	possibly damaging	Het
Trip12	A	T	1: 84,795,767	S49R	probably damaging	Het
Wdr48	A	G	9: 119,905,494	T160A	probably damaging	Het
Zfp704	G	A	3: 9,609,442	T93M	unknown	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
IGL02159:2210010C04Rik	APN	6	41032957	missense	probably benign	0.34
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
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

Predicted Primers

PCR Primer
(F):5'- GGCAGCAATTTCAAGAGAAAGTTC -3'
(R):5'- ACCTACAAAAGTGGCCCGAG -3'

Sequencing Primer
(F):5'- GTTCGTTATTATGCAAGAACCATTC -3'
(R):5'- TGGCCCGAGATAATCAAGTAAC -3'

Posted On

2020-09-02