Mutagenetix > Incidental Mutation

Incidental Mutation 'R7067:4932438H23Rik'

548654

Institutional Source

Beutler Lab

Gene Symbol

4932438H23Rik

Ensembl Gene

ENSMUSG00000039851

Gene Name

RIKEN cDNA 4932438H23 gene

Synonyms

MMRRC Submission

045163-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7067 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90841534-90866040 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90852921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 72 (S72C)

Ref Sequence

ENSEMBL: ENSMUSP00000122640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035689] [ENSMUST00000114076] [ENSMUST00000146047]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035689
AA Change: S72C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040111
Gene: ENSMUSG00000039851
AA Change: S72C

Domain	Start	End	E-Value	Type
Pfam:DUF4571	19	230	8.6e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114076
AA Change: S72C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109710
Gene: ENSMUSG00000039851
AA Change: S72C

Domain	Start	End	E-Value	Type
Pfam:DUF4571	20	230	2.2e-103	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146047
AA Change: S72C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122640
Gene: ENSMUSG00000039851
AA Change: S72C

Domain	Start	End	E-Value	Type
Pfam:DUF4571	19	136	4.1e-66	PFAM

Meta Mutation Damage Score

0.2934

Coding Region Coverage

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

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,845 (GRCm39)	D1236G	probably benign	Het
Abcc6	T	C	7: 45,668,114 (GRCm39)	N165D	probably benign	Het
Aebp1	A	G	11: 5,816,431 (GRCm39)		probably null	Het
Afg2a	C	T	3: 37,485,847 (GRCm39)	Q190*	probably null	Het
Anapc4	A	G	5: 53,019,577 (GRCm39)	T580A	probably benign	Het
Apob	T	C	12: 8,059,423 (GRCm39)	I2602T	probably damaging	Het
Arap2	A	G	5: 62,811,387 (GRCm39)		probably null	Het
Asap3	T	A	4: 135,968,673 (GRCm39)		probably null	Het
Bend4	A	G	5: 67,557,611 (GRCm39)	Y402H	probably damaging	Het
Ccn2	A	G	10: 24,472,873 (GRCm39)	Y261C	probably benign	Het
Crtc2	A	G	3: 90,167,489 (GRCm39)	N271S	probably benign	Het
Csf2rb2	A	T	15: 78,176,694 (GRCm39)	W233R	probably damaging	Het
Cyp2u1	G	A	3: 131,087,202 (GRCm39)	L460F	probably damaging	Het
Dnm3	A	G	1: 162,148,540 (GRCm39)	L277P	probably damaging	Het
Efemp1	A	T	11: 28,817,926 (GRCm39)	N135I	probably damaging	Het
Elapor2	G	T	5: 9,316,295 (GRCm39)	A9S	possibly damaging	Het
Fsip2	T	A	2: 82,811,078 (GRCm39)	S2466T	possibly damaging	Het
Gal3st2	C	T	1: 93,802,447 (GRCm39)	A276V	possibly damaging	Het
Gm47985	A	T	1: 151,059,241 (GRCm39)	D294V	unknown	Het
Golga1	A	T	2: 38,937,731 (GRCm39)	D104E	probably benign	Het
Hnrnpr	C	T	4: 136,054,704 (GRCm39)	A219V	probably damaging	Het
Hsd3b7	T	C	7: 127,399,888 (GRCm39)		probably null	Het
Hspa8	T	C	9: 40,715,921 (GRCm39)	I562T	probably damaging	Het
Htra4	C	T	8: 25,523,717 (GRCm39)	V283M	probably damaging	Het
Il36rn	C	T	2: 24,167,541 (GRCm39)	R11*	probably null	Het
Iqcd	A	G	5: 120,743,212 (GRCm39)	T325A	probably damaging	Het
Kif23	A	T	9: 61,832,271 (GRCm39)	M624K	probably benign	Het
Krt25	G	T	11: 99,208,209 (GRCm39)	Q340K	probably benign	Het
Lamp3	T	A	16: 19,518,413 (GRCm39)	N275Y	probably damaging	Het
Lpin2	A	C	17: 71,551,853 (GRCm39)	K789T	possibly damaging	Het
Mroh2b	T	C	15: 4,929,986 (GRCm39)	I24T	probably benign	Het
Muc16	T	A	9: 18,569,547 (GRCm39)	I991F	unknown	Het
Ntf5	T	A	7: 45,065,048 (GRCm39)	L60Q	probably damaging	Het
Nuak1	A	G	10: 84,276,158 (GRCm39)	S22P	possibly damaging	Het
Obox8	T	C	7: 14,066,979 (GRCm39)	T22A	possibly damaging	Het
Or8k21	T	A	2: 86,144,911 (GRCm39)	T240S	probably damaging	Het
Pde8a	T	C	7: 80,967,074 (GRCm39)	V405A	probably benign	Het
Phc2	T	C	4: 128,640,934 (GRCm39)	S147P	probably benign	Het
Pole	G	T	5: 110,482,084 (GRCm39)	G142V	probably damaging	Het
Poli	G	A	18: 70,642,488 (GRCm39)	Q508*	probably null	Het
Repin1	T	A	6: 48,574,850 (GRCm39)	L537*	probably null	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Slc30a2	T	A	4: 134,071,529 (GRCm39)		probably null	Het
Slit3	A	G	11: 35,399,057 (GRCm39)	S141G	probably benign	Het
Spon2	A	G	5: 33,371,958 (GRCm39)	S283P	probably damaging	Het
Srgap3	A	T	6: 112,734,266 (GRCm39)		probably benign	Het
Syde2	A	G	3: 145,694,019 (GRCm39)	D89G	probably benign	Het
Syne1	A	G	10: 5,184,586 (GRCm39)	I4099T	probably damaging	Het
Syt5	T	C	7: 4,546,075 (GRCm39)	D105G	probably benign	Het
Tlx3	C	T	11: 33,153,204 (GRCm39)	G86S	probably damaging	Het
Trim24	A	T	6: 37,934,775 (GRCm39)		probably null	Het
Umodl1	G	A	17: 31,201,246 (GRCm39)	V392I	probably damaging	Het
Unc80	C	A	1: 66,685,731 (GRCm39)	T2285K	possibly damaging	Het
Vars1	G	A	17: 35,230,455 (GRCm39)	V513I	probably damaging	Het
Vmn1r87	T	A	7: 12,865,849 (GRCm39)	Q146L	probably benign	Het
Vmn2r62	T	C	7: 42,414,302 (GRCm39)	I714V	probably benign	Het
Xbp1	T	A	11: 5,474,275 (GRCm39)	S159T	probably damaging	Het
Xrn1	T	A	9: 95,851,565 (GRCm39)	H194Q	probably damaging	Het
Zc3h4	A	T	7: 16,162,976 (GRCm39)	K459*	probably null	Het
Zdhhc6	G	A	19: 55,292,871 (GRCm39)	R292*	probably null	Het
Zfp383	T	A	7: 29,608,071 (GRCm39)	M1K	probably null	Het
Zfp703	A	G	8: 27,469,044 (GRCm39)	D236G	probably damaging	Het

Other mutations in 4932438H23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00686:4932438H23Rik	APN	16	90,852,489 (GRCm39)	missense	possibly damaging	0.90
IGL01934:4932438H23Rik	APN	16	90,852,753 (GRCm39)	missense	probably damaging	1.00
IGL02060:4932438H23Rik	APN	16	90,852,603 (GRCm39)	missense	probably damaging	0.99
IGL02244:4932438H23Rik	APN	16	90,853,085 (GRCm39)	missense	probably benign	0.23
IGL02623:4932438H23Rik	APN	16	90,853,032 (GRCm39)	missense	probably benign	0.02
PIT4810001:4932438H23Rik	UTSW	16	90,852,822 (GRCm39)	missense	probably damaging	1.00
R0135:4932438H23Rik	UTSW	16	90,852,515 (GRCm39)	missense	probably damaging	0.99
R0932:4932438H23Rik	UTSW	16	90,852,995 (GRCm39)	missense	probably benign	0.00
R4591:4932438H23Rik	UTSW	16	90,852,959 (GRCm39)	missense	probably damaging	0.99
R6472:4932438H23Rik	UTSW	16	90,852,891 (GRCm39)	missense	probably benign	0.00
R6513:4932438H23Rik	UTSW	16	90,852,654 (GRCm39)	missense	probably benign	0.00
R7472:4932438H23Rik	UTSW	16	90,852,744 (GRCm39)	missense	probably benign	0.06
R8369:4932438H23Rik	UTSW	16	90,852,657 (GRCm39)	missense	probably benign	0.07
R8469:4932438H23Rik	UTSW	16	90,852,797 (GRCm39)	missense	probably damaging	1.00
R8508:4932438H23Rik	UTSW	16	90,852,500 (GRCm39)	missense	probably damaging	1.00
R8680:4932438H23Rik	UTSW	16	90,852,551 (GRCm39)	missense	probably damaging	1.00
R8884:4932438H23Rik	UTSW	16	90,852,737 (GRCm39)	missense	probably damaging	1.00
R9166:4932438H23Rik	UTSW	16	90,853,046 (GRCm39)	missense	possibly damaging	0.94
R9335:4932438H23Rik	UTSW	16	90,852,830 (GRCm39)	missense	probably damaging	1.00
R9390:4932438H23Rik	UTSW	16	90,853,096 (GRCm39)	missense	probably benign	0.23
Z1088:4932438H23Rik	UTSW	16	90,852,701 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGTGCTGGAACCACATAGG -3'
(R):5'- TCCTTTCAGGTGACCTACAATG -3'

Sequencing Primer
(F):5'- CCACATAGGGAAAGCTTCAAGTCTTG -3'
(R):5'- TGACCTACAATGGACTGGCTCATG -3'

Posted On

2019-05-13