Mutagenetix > Incidental Mutation

Incidental Mutation 'R8714:4921539E11Rik'

669756

Institutional Source

Beutler Lab

Gene Symbol

4921539E11Rik

Ensembl Gene

ENSMUSG00000028520

Gene Name

RIKEN cDNA 4921539E11 gene

Synonyms

MMRRC Submission

068568-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8714 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103087642-103148060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103100093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 137 (A137T)

Ref Sequence

ENSEMBL: ENSMUSP00000030245 (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: A137T

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: A137T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097944
AA Change: A137T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520
AA Change: A137T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168664
AA Change: A36T

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520
AA Change: A36T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	T	A	14: 35,818,456 (GRCm39)	C151*	probably null	Het
Abca4	A	G	3: 121,942,528 (GRCm39)	T1674A	probably benign	Het
Acat3	A	T	17: 13,147,516 (GRCm39)	V167E	probably benign	Het
Alb	T	C	5: 90,608,874 (GRCm39)		probably null	Het
Apol9a	T	C	15: 77,288,942 (GRCm39)	T142A	probably benign	Het
Asb14	C	T	14: 26,623,032 (GRCm39)	P135S	possibly damaging	Het
Asb17	A	G	3: 153,556,313 (GRCm39)	Y140C	probably damaging	Het
Atp4a	T	A	7: 30,420,013 (GRCm39)	I750N	probably damaging	Het
Bard1	T	C	1: 71,069,986 (GRCm39)	Y664C	probably damaging	Het
Cacnb3	G	A	15: 98,530,262 (GRCm39)		probably benign	Het
Card11	T	A	5: 140,899,147 (GRCm39)	D9V	possibly damaging	Het
Casp8	A	T	1: 58,872,812 (GRCm39)	Q229H	possibly damaging	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cep350	T	C	1: 155,736,477 (GRCm39)	D2853G	probably damaging	Het
Cfap161	T	C	7: 83,442,482 (GRCm39)	I110M	probably benign	Het
Chid1	T	A	7: 141,093,678 (GRCm39)	K313*	probably null	Het
Col16a1	T	A	4: 129,947,961 (GRCm39)	I227N	unknown	Het
D3Ertd751e	G	T	3: 41,700,998 (GRCm39)	E6*	probably null	Het
Ddx41	T	C	13: 55,682,250 (GRCm39)	Q208R	probably damaging	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dmrta1	A	T	4: 89,579,682 (GRCm39)	Q214L	probably benign	Het
Eif2ak4	T	C	2: 118,292,765 (GRCm39)	F1330L	possibly damaging	Het
Fbxw13	C	T	9: 109,023,832 (GRCm39)	V71I	probably benign	Het
H2-Q2	T	C	17: 35,562,338 (GRCm39)	L195P	possibly damaging	Het
Hemgn	C	T	4: 46,395,904 (GRCm39)	G444D	probably damaging	Het
Lmtk2	A	G	5: 144,112,876 (GRCm39)	T1199A	probably damaging	Het
Ly75	T	C	2: 60,164,829 (GRCm39)	D783G	probably damaging	Het
Micall1	G	A	15: 79,011,510 (GRCm39)	A627T	probably benign	Het
Morc2a	C	T	11: 3,625,877 (GRCm39)	T159I	probably benign	Het
Mthfr	C	A	4: 148,126,275 (GRCm39)	N115K	probably damaging	Het
Muc1	G	A	3: 89,138,821 (GRCm39)	V477M	possibly damaging	Het
Mug1	C	T	6: 121,859,681 (GRCm39)	P1227S	probably benign	Het
Ogfod3	T	A	11: 121,087,608 (GRCm39)	D163V	possibly damaging	Het
Or51a43	T	A	7: 103,717,483 (GRCm39)	I252F	probably damaging	Het
Pcnx2	C	T	8: 126,500,546 (GRCm39)	V1515I	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plscr3	G	T	11: 69,738,838 (GRCm39)	G167C	probably benign	Het
Plxna4	T	A	6: 32,140,379 (GRCm39)	K1670*	probably null	Het
Prb1c	G	A	6: 132,341,051 (GRCm39)	T7I	unknown	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rnf157	C	A	11: 116,237,891 (GRCm39)	A577S	probably benign	Het
Rnf213	C	T	11: 119,359,720 (GRCm39)	S4371L		Het
S1pr1	A	T	3: 115,505,470 (GRCm39)	S375T	probably benign	Het
Spen	T	C	4: 141,215,314 (GRCm39)	N506S	unknown	Het
Sulf1	T	A	1: 12,878,141 (GRCm39)	Y210N	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tg	A	G	15: 66,555,891 (GRCm39)	N861S	probably damaging	Het
Ttc29	A	G	8: 79,060,331 (GRCm39)	E417G	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubxn7	T	A	16: 32,186,229 (GRCm39)		probably benign	Het
Vmn1r62	C	A	7: 5,678,629 (GRCm39)	Y103*	probably null	Het
Zfp804b	A	T	5: 6,822,378 (GRCm39)	Y228*	probably null	Het

Other mutations in 4921539E11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:4921539E11Rik	APN	4	103,092,983 (GRCm39)	missense	possibly damaging	0.95
IGL00864:4921539E11Rik	APN	4	103,092,895 (GRCm39)	missense	probably damaging	1.00
IGL01951:4921539E11Rik	APN	4	103,092,865 (GRCm39)	missense	probably damaging	1.00
IGL02477:4921539E11Rik	APN	4	103,127,943 (GRCm39)	missense	probably benign	0.04
IGL02606:4921539E11Rik	APN	4	103,099,978 (GRCm39)	missense	probably benign	0.01
IGL03210:4921539E11Rik	APN	4	103,141,635 (GRCm39)	missense	probably benign	0.01
BB004:4921539E11Rik	UTSW	4	103,123,539 (GRCm39)	missense	probably benign	0.02
BB014:4921539E11Rik	UTSW	4	103,123,539 (GRCm39)	missense	probably benign	0.02
R0441:4921539E11Rik	UTSW	4	103,092,689 (GRCm39)	intron	probably benign
R0455:4921539E11Rik	UTSW	4	103,088,180 (GRCm39)	missense	possibly damaging	0.69
R0504:4921539E11Rik	UTSW	4	103,128,057 (GRCm39)	splice site	probably benign
R0636:4921539E11Rik	UTSW	4	103,088,414 (GRCm39)	missense	probably damaging	1.00
R0766:4921539E11Rik	UTSW	4	103,127,994 (GRCm39)	missense	probably damaging	0.99
R0799:4921539E11Rik	UTSW	4	103,100,101 (GRCm39)	missense	possibly damaging	0.83
R1312:4921539E11Rik	UTSW	4	103,127,994 (GRCm39)	missense	probably damaging	0.99
R1713:4921539E11Rik	UTSW	4	103,127,964 (GRCm39)	missense	possibly damaging	0.92
R1783:4921539E11Rik	UTSW	4	103,088,286 (GRCm39)	missense	probably damaging	0.99
R1978:4921539E11Rik	UTSW	4	103,127,961 (GRCm39)	missense	possibly damaging	0.49
R3735:4921539E11Rik	UTSW	4	103,123,603 (GRCm39)	missense	probably damaging	1.00
R4821:4921539E11Rik	UTSW	4	103,092,871 (GRCm39)	missense	probably damaging	1.00
R5274:4921539E11Rik	UTSW	4	103,092,856 (GRCm39)	missense	probably benign	0.22
R5275:4921539E11Rik	UTSW	4	103,092,856 (GRCm39)	missense	probably benign	0.22
R5431:4921539E11Rik	UTSW	4	103,128,045 (GRCm39)	missense	probably benign	0.00
R5449:4921539E11Rik	UTSW	4	103,123,579 (GRCm39)	missense	probably benign
R6049:4921539E11Rik	UTSW	4	103,088,520 (GRCm39)	missense	probably benign	0.05
R6277:4921539E11Rik	UTSW	4	103,088,668 (GRCm39)	nonsense	probably null
R6518:4921539E11Rik	UTSW	4	103,123,608 (GRCm39)	missense	probably damaging	1.00
R6602:4921539E11Rik	UTSW	4	103,112,769 (GRCm39)	missense	probably benign	0.36
R6634:4921539E11Rik	UTSW	4	103,094,127 (GRCm39)	critical splice donor site	probably null
R6992:4921539E11Rik	UTSW	4	103,099,990 (GRCm39)	missense	possibly damaging	0.57
R7575:4921539E11Rik	UTSW	4	103,088,192 (GRCm39)	missense	probably damaging	1.00
R7927:4921539E11Rik	UTSW	4	103,123,539 (GRCm39)	missense	probably benign	0.02
R8130:4921539E11Rik	UTSW	4	103,092,895 (GRCm39)	missense	probably damaging	1.00
R8461:4921539E11Rik	UTSW	4	103,112,712 (GRCm39)	missense	probably benign	0.01
R8798:4921539E11Rik	UTSW	4	103,123,574 (GRCm39)	start gained	probably benign
R9458:4921539E11Rik	UTSW	4	103,141,608 (GRCm39)	missense	possibly damaging	0.81
R9462:4921539E11Rik	UTSW	4	103,092,964 (GRCm39)	missense	probably benign	0.08
R9598:4921539E11Rik	UTSW	4	103,088,604 (GRCm39)	missense	probably benign	0.03
R9643:4921539E11Rik	UTSW	4	103,092,666 (GRCm39)	missense	unknown
R9709:4921539E11Rik	UTSW	4	103,092,678 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GATGCTGCTACTTTTGACATAGACA -3'
(R):5'- GAAATGTGAATAATTATCCCCAAGCTA -3'

Sequencing Primer
(F):5'- TGGAGGAGAGACGTTTTC -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'

Posted On

2021-04-30