Mutagenetix > Incidental Mutation

Incidental Mutation 'R7643:4930435E12Rik'

590379

Institutional Source

Beutler Lab

Gene Symbol

4930435E12Rik

Ensembl Gene

ENSMUSG00000022798

Gene Name

RIKEN cDNA 4930435E12 gene

Synonyms

MMRRC Submission

045700-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38812206-38828749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38827863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 295 (Y295H)

Ref Sequence

ENSEMBL: ENSMUSP00000113120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122078]

AlphaFold

A6X8Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000122078
AA Change: Y295H

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113120
Gene: ENSMUSG00000022798
AA Change: Y295H

Domain	Start	End	E-Value	Type
low complexity region	86	97	N/A	INTRINSIC
low complexity region	244	254	N/A	INTRINSIC
low complexity region	307	317	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	G	9: 15,297,860 (GRCm38)	F46S	probably damaging	Het
Acaca	T	C	11: 84,338,356 (GRCm38)	Y1670H	probably damaging	Het
Acrbp	G	A	6: 125,053,832 (GRCm38)	R272Q	possibly damaging	Het
Adcy6	T	A	15: 98,593,568 (GRCm38)	Q1050L	probably benign	Het
Amn1	C	T	6: 149,185,031 (GRCm38)	M44I	probably benign	Het
Ankrd13b	A	G	11: 77,473,085 (GRCm38)	V395A	probably benign	Het
Ap3b2	T	C	7: 81,477,072 (GRCm38)	K310R	probably benign	Het
Bnc2	T	C	4: 84,506,574 (GRCm38)	D123G	probably benign	Het
Bst1	G	A	5: 43,840,449 (GRCm38)	M263I	probably benign	Het
Ccdc7a	C	T	8: 128,889,811 (GRCm38)	G937E	probably damaging	Het
Cep290	A	G	10: 100,537,553 (GRCm38)	M1232V	probably benign	Het
Cfhr1	A	G	1: 139,553,585 (GRCm38)	Y186H	possibly damaging	Het
Dnah7c	A	T	1: 46,602,813 (GRCm38)	H1203L	probably benign	Het
Emc7	A	G	2: 112,455,279 (GRCm38)	E71G	probably benign	Het
Exoc3l4	G	A	12: 111,421,935 (GRCm38)		probably benign	Het
Fam83c	A	G	2: 155,831,004 (GRCm38)	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,200,225 (GRCm38)	V180L	probably benign	Het
Gbp2b	G	T	3: 142,603,609 (GRCm38)	Q160H	probably benign	Het
Gm19965	C	G	1: 116,822,229 (GRCm38)	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713 (GRCm38)		probably benign	Het
Gon4l	T	A	3: 88,902,807 (GRCm38)	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,717,816 (GRCm38)	Y303*	probably null	Het
Greb1	T	C	12: 16,711,996 (GRCm38)	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950 (GRCm38)	N36S	probably benign	Het
Hacd1	T	C	2: 14,044,791 (GRCm38)	I119V	probably damaging	Het
Ing5	T	A	1: 93,812,433 (GRCm38)	D101E	probably damaging	Het
Irak4	T	A	15: 94,558,828 (GRCm38)	N297K	probably benign	Het
Itga7	A	G	10: 128,953,501 (GRCm38)	D971G	probably benign	Het
Klf5	A	G	14: 99,313,178 (GRCm38)	E397G	possibly damaging	Het
Krtap29-1	C	T	11: 99,978,198 (GRCm38)	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,020,527 (GRCm38)		probably null	Het
March4	T	G	1: 72,447,220 (GRCm38)	Q266H	probably damaging	Het
Med23	A	G	10: 24,905,965 (GRCm38)	T1056A	probably benign	Het
Megf11	T	C	9: 64,706,632 (GRCm38)	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,346,265 (GRCm38)	L85I	probably benign	Het
Nlgn2	G	T	11: 69,827,885 (GRCm38)	Q290K	probably damaging	Het
Nox4	A	T	7: 87,323,754 (GRCm38)	E323V	probably damaging	Het
Nup93	T	C	8: 94,286,619 (GRCm38)		probably null	Het
Olfr298	C	T	7: 86,489,568 (GRCm38)		probably null	Het
Olfr558	C	T	7: 102,709,538 (GRCm38)	T93I	probably benign	Het
Olfr977-ps1	T	A	9: 39,974,821 (GRCm38)	M1L	unknown	Het
Otop3	T	C	11: 115,339,648 (GRCm38)	L117P	probably damaging	Het
Pde6c	C	A	19: 38,141,421 (GRCm38)	Q260K	probably damaging	Het
Plb1	C	T	5: 32,247,557 (GRCm38)	Q20*	probably null	Het
Qser1	A	T	2: 104,786,977 (GRCm38)	Y1163*	probably null	Het
Rbm12	A	T	2: 156,098,217 (GRCm38)	I45N	unknown	Het
Rictor	T	A	15: 6,769,269 (GRCm38)	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325 (GRCm38)	S83*	probably null	Het
Sel1l3	C	T	5: 53,123,162 (GRCm38)		probably null	Het
Setd2	T	C	9: 110,567,840 (GRCm38)		probably null	Het
Spink5	A	G	18: 44,010,252 (GRCm38)	T759A	probably benign	Het
Spon2	T	A	5: 33,217,456 (GRCm38)	E2V	probably benign	Het
Tdrd1	T	C	19: 56,837,708 (GRCm38)	S144P	probably damaging	Het
Tex15	A	C	8: 33,575,120 (GRCm38)	Y1526S	probably damaging	Het
Tnfrsf21	T	C	17: 43,037,916 (GRCm38)	S140P	probably benign	Het
Trav6-2	T	A	14: 52,667,442 (GRCm38)	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,247,814 (GRCm38)		probably null	Het
Ttn	T	C	2: 76,734,827 (GRCm38)	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,573,106 (GRCm38)	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333 (GRCm38)	S211T	probably benign	Het
Zcchc4	T	C	5: 52,808,293 (GRCm38)	I313T	possibly damaging	Het
Zfp106	C	T	2: 120,512,734 (GRCm38)	R1811K	probably benign	Het
Zfp599	G	T	9: 22,249,892 (GRCm38)	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,309,525 (GRCm38)	M108K	probably damaging	Het

Other mutations in 4930435E12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01979:4930435E12Rik	APN	16	38,827,893 (GRCm38)	missense	possibly damaging	0.61
IGL01998:4930435E12Rik	APN	16	38,828,224 (GRCm38)	missense	probably benign	0.00
IGL02454:4930435E12Rik	APN	16	38,827,947 (GRCm38)	missense	probably benign	0.02
IGL03216:4930435E12Rik	APN	16	38,828,690 (GRCm38)	missense	possibly damaging	0.59
IGL03325:4930435E12Rik	APN	16	38,827,993 (GRCm38)	missense	probably damaging	1.00
IGL03397:4930435E12Rik	APN	16	38,828,693 (GRCm38)	missense	probably damaging	1.00
R7924_4930435E12Rik_239	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
BB001:4930435E12Rik	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
BB011:4930435E12Rik	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
R0242:4930435E12Rik	UTSW	16	38,824,567 (GRCm38)	splice site	probably benign
R0446:4930435E12Rik	UTSW	16	38,828,702 (GRCm38)	missense	probably benign	0.01
R0607:4930435E12Rik	UTSW	16	38,828,364 (GRCm38)	missense	probably benign	0.02
R1918:4930435E12Rik	UTSW	16	38,828,088 (GRCm38)	missense	possibly damaging	0.56
R1953:4930435E12Rik	UTSW	16	38,827,913 (GRCm38)	missense	possibly damaging	0.78
R3417:4930435E12Rik	UTSW	16	38,828,740 (GRCm38)	missense	probably benign	0.17
R4601:4930435E12Rik	UTSW	16	38,828,018 (GRCm38)	missense	probably benign	0.14
R4860:4930435E12Rik	UTSW	16	38,828,145 (GRCm38)	missense	probably damaging	0.97
R4860:4930435E12Rik	UTSW	16	38,828,145 (GRCm38)	missense	probably damaging	0.97
R5551:4930435E12Rik	UTSW	16	38,827,974 (GRCm38)	missense	probably benign	0.28
R7568:4930435E12Rik	UTSW	16	38,828,447 (GRCm38)	missense	possibly damaging	0.95
R7623:4930435E12Rik	UTSW	16	38,828,091 (GRCm38)	missense	possibly damaging	0.87
R7669:4930435E12Rik	UTSW	16	38,828,091 (GRCm38)	missense	possibly damaging	0.87
R7670:4930435E12Rik	UTSW	16	38,828,091 (GRCm38)	missense	possibly damaging	0.87
R7671:4930435E12Rik	UTSW	16	38,828,091 (GRCm38)	missense	possibly damaging	0.87
R7924:4930435E12Rik	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
R9385:4930435E12Rik	UTSW	16	38,828,045 (GRCm38)	missense	probably benign	0.11
RF013:4930435E12Rik	UTSW	16	38,828,001 (GRCm38)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- GGAGGCAACACATCTCTTTTG -3'
(R):5'- CTGGCCAAAGATTACAGCCTTG -3'

Sequencing Primer
(F):5'- GTGTTACATCCTTCCTGAGACC -3'
(R):5'- ACAGCCTTGCACATTTGAAG -3'

Posted On

2019-10-24