Mutagenetix > Incidental Mutation

Incidental Mutation 'R8187:4930438A08Rik'

634931

Institutional Source

Beutler Lab

Gene Symbol

4930438A08Rik

Ensembl Gene

ENSMUSG00000069873

Gene Name

RIKEN cDNA 4930438A08 gene

Synonyms

MMRRC Submission

067610-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58165654-58185116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58180548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 200 (S200G)

Ref Sequence

ENSEMBL: ENSMUSP00000104462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108834] [ENSMUST00000208022]

AlphaFold

Q5SPH3

Predicted Effect

SMART Domains

Protein: ENSMUSP00000104462
Gene: ENSMUSG00000069873
AA Change: S200G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pyr_redox_2	29	166	2e-8	PFAM
Pfam:AlaDh_PNT_C	48	124	8.8e-8	PFAM
Pfam:FAD_binding_3	61	98	1.9e-7	PFAM
Pfam:HI0933_like	62	103	3.1e-8	PFAM
Pfam:Pyr_redox	63	105	1.8e-7	PFAM
Pfam:FAD_binding_2	63	119	8.7e-9	PFAM
Pfam:DAO	63	212	2.9e-8	PFAM
Pfam:NAD_binding_8	66	133	7.1e-15	PFAM
Pfam:Amino_oxidase	71	270	7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208022
AA Change: S200G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	T	1: 120,115,913 (GRCm39)	*122L	probably null	Het
Adgre1	T	A	17: 57,727,349 (GRCm39)	S426R	probably benign	Het
Adgrg1	A	G	8: 95,732,446 (GRCm39)	E229G	probably benign	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef39	A	T	4: 43,498,999 (GRCm39)	L84Q	probably damaging	Het
Bpifb9a	A	G	2: 154,111,377 (GRCm39)	I544V	probably benign	Het
Brwd1	A	T	16: 95,803,934 (GRCm39)	L2079I	probably damaging	Het
Ccnh	T	A	13: 85,337,656 (GRCm39)	M1K	probably null	Het
Cdh16	T	C	8: 105,344,870 (GRCm39)	N415S	probably damaging	Het
Chuk	T	C	19: 44,079,551 (GRCm39)	N317D	probably benign	Het
Cnot10	A	T	9: 114,426,556 (GRCm39)	C665*	probably null	Het
Csmd1	G	T	8: 16,177,188 (GRCm39)	H1358Q	probably damaging	Het
Cyp4f37	T	C	17: 32,854,171 (GRCm39)	V540A	probably benign	Het
Daam1	A	G	12: 71,942,602 (GRCm39)	D22G	unknown	Het
Dhdds	A	G	4: 133,727,679 (GRCm39)		probably benign	Het
Dnah5	T	C	15: 28,384,355 (GRCm39)	V3033A	probably damaging	Het
Dync1i2	A	G	2: 71,044,865 (GRCm39)	K25R	probably benign	Het
Efhc1	T	A	1: 21,030,396 (GRCm39)	S110T	probably damaging	Het
Emilin3	T	C	2: 160,750,000 (GRCm39)	N583S	possibly damaging	Het
Eri2	A	G	7: 119,384,767 (GRCm39)	V578A	probably damaging	Het
F2rl2	A	T	13: 95,837,911 (GRCm39)	I319L	probably benign	Het
Gjd3	A	C	11: 102,691,381 (GRCm39)	Y207*	probably null	Het
Gm19965	T	A	1: 116,749,532 (GRCm39)	C404*	probably null	Het
Gm2832	A	T	14: 41,000,915 (GRCm39)	H51L		Het
Gpam	T	C	19: 55,066,269 (GRCm39)	T631A	probably benign	Het
Hdac2	T	C	10: 36,864,132 (GRCm39)	S114P	probably damaging	Het
Hsd3b1	T	A	3: 98,759,933 (GRCm39)	T353S	probably damaging	Het
Idh1	T	C	1: 65,198,700 (GRCm39)	D390G	probably damaging	Het
Il36g	T	G	2: 24,082,617 (GRCm39)	L131V	probably damaging	Het
Irs1	G	T	1: 82,266,021 (GRCm39)	P732T	probably damaging	Het
Kansl1l	T	A	1: 66,840,896 (GRCm39)	I135F	possibly damaging	Het
Mcc	A	G	18: 44,667,327 (GRCm39)	V208A	possibly damaging	Het
Mgrn1	A	G	16: 4,738,229 (GRCm39)	N261S	probably benign	Het
Mybpc2	T	A	7: 44,161,894 (GRCm39)	N519Y	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nr1h5	G	T	3: 102,861,986 (GRCm39)	H94Q	probably benign	Het
Nsmce4a	A	G	7: 130,144,519 (GRCm39)	V128A	probably benign	Het
Or5w14	T	G	2: 87,541,624 (GRCm39)	S209R	probably benign	Het
Or6y1	TTGTGTG	TTGTG	1: 174,276,838 (GRCm39)		probably null	Het
Osmr	T	A	15: 6,850,485 (GRCm39)	Y707F	probably damaging	Het
Pck1	G	T	2: 172,997,033 (GRCm39)	R225L	probably benign	Het
Prom1	A	T	5: 44,191,708 (GRCm39)	L354Q	probably damaging	Het
Rev3l	C	A	10: 39,682,693 (GRCm39)	Q300K	probably benign	Het
Rin3	T	A	12: 102,292,066 (GRCm39)	C88S	unknown	Het
Slc37a4	T	C	9: 44,311,291 (GRCm39)	V194A	possibly damaging	Het
Smpd4	T	A	16: 17,446,999 (GRCm39)	H242Q	probably damaging	Het
Spen	T	C	4: 141,200,216 (GRCm39)	I2804V	possibly damaging	Het
Srrm4	A	C	5: 116,587,680 (GRCm39)	F359L	unknown	Het
Svs5	A	G	2: 164,079,692 (GRCm39)	Y72H	possibly damaging	Het
Tmem158	T	A	9: 123,088,875 (GRCm39)	T246S	unknown	Het
Ttn	A	G	2: 76,633,735 (GRCm39)	V14038A	probably benign	Het
Ttn	A	G	2: 76,559,790 (GRCm39)	I29537T	probably damaging	Het
Ttn	A	G	2: 76,626,069 (GRCm39)	S14997P	probably damaging	Het
Vmn1r231	A	T	17: 21,110,893 (GRCm39)	D7E	probably benign	Het
Vmn2r14	A	G	5: 109,368,420 (GRCm39)	S191P	probably benign	Het
Zfp599	G	T	9: 22,161,111 (GRCm39)	Y351*	probably null	Het
Zfp729a	T	A	13: 67,769,918 (GRCm39)	K104*	probably null	Het

Other mutations in 4930438A08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02884:4930438A08Rik	APN	11	58,178,302 (GRCm39)	missense	probably benign	0.01
IGL03088:4930438A08Rik	APN	11	58,184,210 (GRCm39)	missense	unknown
R0715:4930438A08Rik	UTSW	11	58,179,176 (GRCm39)	missense	probably damaging	1.00
R1139:4930438A08Rik	UTSW	11	58,179,112 (GRCm39)	missense	probably damaging	1.00
R1833:4930438A08Rik	UTSW	11	58,179,214 (GRCm39)	nonsense	probably null
R5906:4930438A08Rik	UTSW	11	58,182,260 (GRCm39)	splice site	probably null
R6056:4930438A08Rik	UTSW	11	58,184,464 (GRCm39)	missense	probably damaging	0.96
R6288:4930438A08Rik	UTSW	11	58,184,421 (GRCm39)	missense	probably damaging	1.00
R6981:4930438A08Rik	UTSW	11	58,184,544 (GRCm39)	unclassified	probably benign
R6989:4930438A08Rik	UTSW	11	58,178,228 (GRCm39)	missense	possibly damaging	0.88
R7195:4930438A08Rik	UTSW	11	58,179,242 (GRCm39)	critical splice donor site	probably null
R7344:4930438A08Rik	UTSW	11	58,182,273 (GRCm39)	missense
R7651:4930438A08Rik	UTSW	11	58,184,188 (GRCm39)	missense
R8141:4930438A08Rik	UTSW	11	58,177,411 (GRCm39)	missense
R8214:4930438A08Rik	UTSW	11	58,177,447 (GRCm39)	missense
R8228:4930438A08Rik	UTSW	11	58,182,381 (GRCm39)	missense
R8744:4930438A08Rik	UTSW	11	58,182,260 (GRCm39)	splice site	probably null
R8977:4930438A08Rik	UTSW	11	58,184,710 (GRCm39)	missense	unknown
R9228:4930438A08Rik	UTSW	11	58,178,296 (GRCm39)	missense
R9346:4930438A08Rik	UTSW	11	58,179,095 (GRCm39)	missense
R9421:4930438A08Rik	UTSW	11	58,177,451 (GRCm39)	missense
R9524:4930438A08Rik	UTSW	11	58,180,594 (GRCm39)	critical splice donor site	probably null
Z1186:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1187:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1188:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1189:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1190:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1191:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1192:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCCAGTTTTAGGACACAATTCTG -3'
(R):5'- TTAAGCAGCACACACCTGTC -3'

Sequencing Primer
(F):5'- TTAGGACACAATTCTGGATCCC -3'
(R):5'- GAGGACTCTTTGATACAGCAAGCTC -3'

Posted On

2020-07-13