Mutagenetix > Incidental Mutation

Incidental Mutation 'R3148:4933436I01Rik'

264338

Institutional Source

Beutler Lab

Gene Symbol

4933436I01Rik

Ensembl Gene

ENSMUSG00000025288

Gene Name

RIKEN cDNA 4933436I01 gene

Synonyms

MMRRC Submission

040600-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R3148 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

66963470-66965056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66964984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 12 (D12G)

Ref Sequence

ENSEMBL: ENSMUSP00000026325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026325]

AlphaFold

Q9D3T1

Predicted Effect

probably benign
Transcript: ENSMUST00000026325
AA Change: D12G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000026325
Gene: ENSMUSG00000025288
AA Change: D12G

Domain	Start	End	E-Value	Type
low complexity region	54	67	N/A	INTRINSIC
low complexity region	79	90	N/A	INTRINSIC
low complexity region	91	105	N/A	INTRINSIC
low complexity region	146	157	N/A	INTRINSIC
internal_repeat_1	172	240	2.42e-18	PROSPERO
internal_repeat_1	280	348	2.42e-18	PROSPERO

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 114,465,490 (GRCm39)	V701L	probably damaging	Het
Alg2	A	T	4: 47,472,259 (GRCm39)	V183D	probably damaging	Het
Ank2	T	C	3: 126,726,724 (GRCm39)	I857V	probably benign	Het
Asb15	G	T	6: 24,566,258 (GRCm39)	A404S	probably damaging	Het
Baalc	A	T	15: 38,812,568 (GRCm39)	E106V	possibly damaging	Het
Catsperd	G	T	17: 56,971,039 (GRCm39)	C701F	possibly damaging	Het
Cc2d2a	T	A	5: 43,866,497 (GRCm39)	I769N	probably damaging	Het
Cntnap4	A	G	8: 113,484,071 (GRCm39)	T375A	probably damaging	Het
Col7a1	A	G	9: 108,790,473 (GRCm39)	T974A	unknown	Het
Ehbp1	T	C	11: 22,050,465 (GRCm39)	Y502C	probably damaging	Het
Kcnj11	C	T	7: 45,748,544 (GRCm39)	V260I	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Marf1	A	G	16: 13,943,843 (GRCm39)	V1380A	possibly damaging	Het
Or4k36	T	C	2: 111,146,633 (GRCm39)	F270L	possibly damaging	Het
Otog	T	C	7: 45,939,593 (GRCm39)	L2124P	probably damaging	Het
Pam	T	A	1: 97,823,403 (GRCm39)	N256I	possibly damaging	Het
Pcbp1	C	T	6: 86,502,471 (GRCm39)	E143K	probably damaging	Het
Pramel21	A	T	4: 143,344,047 (GRCm39)	D449V	probably benign	Het
Prrx1	T	C	1: 163,085,417 (GRCm39)	D171G	probably benign	Het
Rasal2	A	T	1: 157,071,334 (GRCm39)		probably benign	Het
Serpinb5	T	A	1: 106,809,555 (GRCm39)	H320Q	probably damaging	Het
Snx4	A	C	16: 33,108,094 (GRCm39)	D296A	probably benign	Het
Sorcs2	T	C	5: 36,193,132 (GRCm39)	Q778R	probably benign	Het
Spata16	T	C	3: 26,932,861 (GRCm39)		probably null	Het
Tcerg1l	G	T	7: 137,861,596 (GRCm39)	Q378K	probably benign	Het
Trpm1	T	C	7: 63,884,760 (GRCm39)	Y814H	probably benign	Het

Other mutations in 4933436I01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:4933436I01Rik	APN	X	66,964,210 (GRCm39)	missense	possibly damaging	0.90
R1974:4933436I01Rik	UTSW	X	66,963,655 (GRCm39)	nonsense	probably null
R2062:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R2063:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R2064:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R2065:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R2066:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R2068:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R3147:4933436I01Rik	UTSW	X	66,964,984 (GRCm39)	missense	probably benign	0.06
R9339:4933436I01Rik	UTSW	X	66,964,689 (GRCm39)	nonsense	probably null
Z1177:4933436I01Rik	UTSW	X	66,964,598 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAAGGCTTTCTAGGGTG -3'
(R):5'- ACCATTCACCAAGGGCTCAG -3'

Sequencing Primer
(F):5'- TGGGTTGAACAGGGAGTTTAAGC -3'
(R):5'- GCATACATTGTGATGTCAGAGCC -3'

Posted On

2015-02-05