Mutagenetix > Incidental Mutation

Incidental Mutation 'R6602:4921539E11Rik'

525334

Institutional Source

Beutler Lab

Gene Symbol

4921539E11Rik

Ensembl Gene

ENSMUSG00000028520

Gene Name

RIKEN cDNA 4921539E11 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

R6602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103230445-103290863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103255572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 12 (H12R)

Ref Sequence

ENSEMBL: ENSMUSP00000131846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030245] [ENSMUST00000097944] [ENSMUST00000168664]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030245
AA Change: H113R

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: H113R

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	443	6.1e-206	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097944
AA Change: H113R

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520
AA Change: H113R

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	270	7.3e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168664
AA Change: H12R

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520
AA Change: H12R

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	342	4.4e-183	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 124,639,254	L250P	probably damaging	Het
Abca4	A	C	3: 122,138,501	Q268P	probably benign	Het
Adgrf5	T	A	17: 43,450,304	N963K	probably benign	Het
Arl10	A	G	13: 54,578,937	D176G	probably damaging	Het
Btnl1	T	A	17: 34,385,748	M501K	probably damaging	Het
Ccdc162	G	T	10: 41,615,980	T1079K	probably benign	Het
Cd163	T	A	6: 124,311,635	W342R	probably damaging	Het
Cd70	T	C	17: 57,149,562	S14G	probably benign	Het
Chil4	C	A	3: 106,210,590	K121N	probably benign	Het
Csf1r	A	G	18: 61,110,425	D171G	possibly damaging	Het
Cyp4a31	A	T	4: 115,569,707		probably null	Het
D3Ertd254e	G	T	3: 36,164,855	L341F	possibly damaging	Het
Dapk1	A	T	13: 60,749,204	I746F	probably benign	Het
Erbb4	A	G	1: 68,370,503	S192P	probably damaging	Het
Exoc8	C	A	8: 124,896,411	V406L	probably damaging	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Greb1	A	T	12: 16,709,440	V652E	probably benign	Het
Ift88	A	G	14: 57,507,259	S745G	probably benign	Het
Il18bp	T	C	7: 102,016,030		probably benign	Het
Il6st	A	G	13: 112,504,413	T908A	probably damaging	Het
Klk11	A	G	7: 43,774,774	S6G	probably benign	Het
Mastl	T	C	2: 23,132,677	Y678C	probably benign	Het
Msra	A	T	14: 64,123,339	H184Q	probably benign	Het
Muc16	A	C	9: 18,609,476		probably null	Het
Myo3a	T	G	2: 22,577,787	L351R	probably damaging	Het
Npy5r	GCTGTGAAACACTG	GCTG	8: 66,681,540		probably null	Het
Olfr463	T	C	11: 87,893,652	T91A	probably benign	Het
Olfr830	A	G	9: 18,875,849	D174G	possibly damaging	Het
Olfr867	C	T	9: 20,055,046	R139Q	probably benign	Het
Pcdhb18	A	T	18: 37,490,480	I288F	probably damaging	Het
Pitpna	T	G	11: 75,620,315	V238G	possibly damaging	Het
Ppfibp1	T	A	6: 146,978,221	V81E	possibly damaging	Het
Rab11fip2	T	A	19: 59,942,856	T49S	probably damaging	Het
Rsl24d1	T	A	9: 73,113,510	I3N	possibly damaging	Het
Rtn1	T	C	12: 72,219,318	N161S	probably damaging	Het
Shank1	A	G	7: 44,352,336	I1151V	probably benign	Het
Slc34a3	A	G	2: 25,229,209	S550P	probably damaging	Het
Slc4a1ap	A	G	5: 31,527,641	H207R	probably damaging	Het
Sphkap	T	A	1: 83,275,758	K1423N	possibly damaging	Het
Ttn	A	G	2: 76,881,753		probably benign	Het
Ubqln5	T	A	7: 104,129,489	S43C	probably benign	Het
Vps13d	G	A	4: 145,103,664		probably benign	Het
Wwp1	A	T	4: 19,641,816	V413D	probably damaging	Het

Other mutations in 4921539E11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:4921539E11Rik	APN	4	103235786	missense	possibly damaging	0.95
IGL00864:4921539E11Rik	APN	4	103235698	missense	probably damaging	1.00
IGL01951:4921539E11Rik	APN	4	103235668	missense	probably damaging	1.00
IGL02477:4921539E11Rik	APN	4	103270746	missense	probably benign	0.04
IGL02606:4921539E11Rik	APN	4	103242781	missense	probably benign	0.01
IGL03210:4921539E11Rik	APN	4	103284438	missense	probably benign	0.01
BB004:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
BB014:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
R0441:4921539E11Rik	UTSW	4	103235492	intron	probably benign
R0455:4921539E11Rik	UTSW	4	103230983	missense	possibly damaging	0.69
R0504:4921539E11Rik	UTSW	4	103270860	splice site	probably benign
R0636:4921539E11Rik	UTSW	4	103231217	missense	probably damaging	1.00
R0766:4921539E11Rik	UTSW	4	103270797	missense	probably damaging	0.99
R0799:4921539E11Rik	UTSW	4	103242904	missense	possibly damaging	0.83
R1312:4921539E11Rik	UTSW	4	103270797	missense	probably damaging	0.99
R1713:4921539E11Rik	UTSW	4	103270767	missense	possibly damaging	0.92
R1783:4921539E11Rik	UTSW	4	103231089	missense	probably damaging	0.99
R1978:4921539E11Rik	UTSW	4	103270764	missense	possibly damaging	0.49
R3735:4921539E11Rik	UTSW	4	103266406	missense	probably damaging	1.00
R4821:4921539E11Rik	UTSW	4	103235674	missense	probably damaging	1.00
R5274:4921539E11Rik	UTSW	4	103235659	missense	probably benign	0.22
R5275:4921539E11Rik	UTSW	4	103235659	missense	probably benign	0.22
R5431:4921539E11Rik	UTSW	4	103270848	missense	probably benign	0.00
R5449:4921539E11Rik	UTSW	4	103266382	missense	probably benign
R6049:4921539E11Rik	UTSW	4	103231323	missense	probably benign	0.05
R6277:4921539E11Rik	UTSW	4	103231471	nonsense	probably null
R6518:4921539E11Rik	UTSW	4	103266411	missense	probably damaging	1.00
R6634:4921539E11Rik	UTSW	4	103236930	critical splice donor site	probably null
R6992:4921539E11Rik	UTSW	4	103242793	missense	possibly damaging	0.57
R7575:4921539E11Rik	UTSW	4	103230995	missense	probably damaging	1.00
R7927:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
R8130:4921539E11Rik	UTSW	4	103235698	missense	probably damaging	1.00
R8461:4921539E11Rik	UTSW	4	103255515	missense	probably benign	0.01
R8714:4921539E11Rik	UTSW	4	103242896	missense	probably benign	0.10
R8798:4921539E11Rik	UTSW	4	103266377	start gained	probably benign
R9458:4921539E11Rik	UTSW	4	103284411	missense	possibly damaging	0.81
R9462:4921539E11Rik	UTSW	4	103235767	missense	probably benign	0.08
R9598:4921539E11Rik	UTSW	4	103231407	missense	probably benign	0.03
R9643:4921539E11Rik	UTSW	4	103235469	missense	unknown
R9709:4921539E11Rik	UTSW	4	103235481	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GATGTCCACAGCTTTATCTTACGC -3'
(R):5'- CAAGGGAGTCGTTTTGGAATAG -3'

Sequencing Primer
(F):5'- CAGATGAAATTGCTTGACATCCTCAC -3'
(R):5'- AGTCGTTTTGGAATAGATTTCTCTC -3'

Posted On

2018-06-22