Mutagenetix > Incidental Mutation

Incidental Mutation 'R9651:4933405L10Rik'

727106

Institutional Source

Beutler Lab

Gene Symbol

4933405L10Rik

Ensembl Gene

ENSMUSG00000013158

Gene Name

RIKEN cDNA 4933405L10 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R9651 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106434921-106436877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106436604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 267 (S267P)

Ref Sequence

ENSEMBL: ENSMUSP00000013302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013294] [ENSMUST00000013299] [ENSMUST00000013302] [ENSMUST00000211852] [ENSMUST00000212061]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000013294

SMART Domains

Protein: ENSMUSP00000013294
Gene: ENSMUSG00000013150

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	6	119	3.7e-14	PFAM
low complexity region	169	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000013299

SMART Domains

Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

Domain	Start	End	E-Value	Type
low complexity region	220	236	N/A	INTRINSIC
Pfam:Enkurin	243	339	6.3e-26	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000013302
Gene: ENSMUSG00000013158
AA Change: S267P

Domain	Start	End	E-Value	Type
Pfam:DUF4691	1	162	3.3e-71	PFAM
low complexity region	200	216	N/A	INTRINSIC
low complexity region	252	275	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211852
AA Change: S258P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,243,741 (GRCm39)	P1868L	probably benign	Het
Abca13	A	G	11: 9,535,484 (GRCm39)	S4703G	probably benign	Het
Abca9	A	T	11: 110,006,319 (GRCm39)	M1262K	probably benign	Het
Acta1	A	T	8: 124,619,431 (GRCm39)	Y220*	probably null	Het
Actr6	A	G	10: 89,564,877 (GRCm39)	V24A	probably damaging	Het
Adam30	T	C	3: 98,069,936 (GRCm39)	Y590H	possibly damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Ankle2	A	G	5: 110,385,661 (GRCm39)	I337V	probably benign	Het
Arid2	T	C	15: 96,256,822 (GRCm39)	V220A	probably benign	Het
Atp8b2	T	C	3: 89,865,603 (GRCm39)	D99G	probably damaging	Het
Baz1b	A	T	5: 135,252,022 (GRCm39)	H940L	probably benign	Het
Cacna1d	C	T	14: 29,764,881 (GRCm39)	V2017I	probably benign	Het
Ccn1	G	T	3: 145,354,583 (GRCm39)	N109K	probably damaging	Het
Cd226	T	A	18: 89,265,395 (GRCm39)	C224*	probably null	Het
Cdrt4	T	A	11: 62,883,466 (GRCm39)	I56N	possibly damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Cryz	A	G	3: 154,327,765 (GRCm39)	Q289R	probably benign	Het
Csn1s2b	T	A	5: 87,968,820 (GRCm39)	M94K	probably benign	Het
Ctnnd1	T	C	2: 84,439,899 (GRCm39)	K804E	possibly damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dffa	A	G	4: 149,190,674 (GRCm39)	T68A	probably damaging	Het
Dnah2	C	T	11: 69,341,824 (GRCm39)		probably null	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Epn3	C	T	11: 94,383,687 (GRCm39)		probably null	Het
Fem1c	A	T	18: 46,657,674 (GRCm39)	D13E		Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fpr2	T	A	17: 18,113,484 (GRCm39)	I160N	probably benign	Het
Gabra1	A	G	11: 42,045,853 (GRCm39)	Y86H	probably damaging	Het
Gabrb3	T	C	7: 57,415,202 (GRCm39)	Y91H	probably damaging	Het
Gcn1	T	C	5: 115,747,665 (GRCm39)		probably null	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gpr152	T	G	19: 4,192,614 (GRCm39)	W52G	probably damaging	Het
Hsd17b12	A	G	2: 93,988,081 (GRCm39)	V45A	probably benign	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Il16	T	A	7: 83,332,064 (GRCm39)	N172I	probably damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Lama1	T	C	17: 68,101,215 (GRCm39)	S1903P		Het
Llgl2	A	T	11: 115,742,941 (GRCm39)		probably null	Het
Mical1	A	T	10: 41,362,022 (GRCm39)		probably null	Het
Muc2	C	T	7: 141,288,014 (GRCm39)	P262S	probably damaging	Het
Myo9a	A	G	9: 59,778,764 (GRCm39)	R1507G	probably damaging	Het
Ndst1	G	A	18: 60,833,539 (GRCm39)	H491Y	probably damaging	Het
Nfasc	T	C	1: 132,527,791 (GRCm39)	T872A	probably benign	Het
Nipal3	A	T	4: 135,174,634 (GRCm39)	C372*	probably null	Het
Nmrk1	A	G	19: 18,616,929 (GRCm39)	H26R	probably benign	Het
Nubp2	G	A	17: 25,103,382 (GRCm39)	T165I	probably damaging	Het
Or2m12	C	T	16: 19,105,489 (GRCm39)	M1I	probably null	Het
Or51d1	T	A	7: 102,347,832 (GRCm39)	M129K	probably damaging	Het
Or5au1	T	C	14: 52,273,205 (GRCm39)	D121G	probably damaging	Het
Or5b102	T	G	19: 13,041,256 (GRCm39)	D160E	probably benign	Het
P2ry12	T	C	3: 59,134,931 (GRCm39)		probably benign	Het
Pax8	T	A	2: 24,331,173 (GRCm39)	D174V	probably damaging	Het
Pbxip1	A	G	3: 89,352,795 (GRCm39)	D147G	probably damaging	Het
Pnpla7	T	C	2: 24,892,931 (GRCm39)	S451P	probably benign	Het
Polm	A	G	11: 5,781,732 (GRCm39)	Y255H	probably damaging	Het
Polr1has	C	T	17: 37,276,353 (GRCm39)	Q242*	probably null	Het
Rdh14	T	A	12: 10,441,118 (GRCm39)	C93*	probably null	Het
Rnf213	C	A	11: 119,331,238 (GRCm39)	S2150Y		Het
Rpap1	G	A	2: 119,598,484 (GRCm39)	P1111L	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Sbp	A	G	17: 24,164,419 (GRCm39)	*200W	probably null	Het
Scn10a	A	G	9: 119,439,063 (GRCm39)	M1601T	probably benign	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slc4a1	A	T	11: 102,242,256 (GRCm39)	I821N	probably damaging	Het
Spaca6	T	A	17: 18,057,829 (GRCm39)	D164E	probably benign	Het
Synj1	T	C	16: 90,735,412 (GRCm39)	T1514A	probably benign	Het
Synj1	C	T	16: 90,757,343 (GRCm39)	V902I	possibly damaging	Het
Tctn1	A	G	5: 122,384,576 (GRCm39)	Y443H	probably benign	Het
Thoc5	C	T	11: 4,849,883 (GRCm39)	R25W	possibly damaging	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Trim45	C	T	3: 100,832,705 (GRCm39)	Q313*	probably null	Het
Ubqlnl	T	C	7: 103,799,122 (GRCm39)	D125G	possibly damaging	Het
Ubr4	A	T	4: 139,206,859 (GRCm39)	E4926V	unknown	Het
Usp5	T	C	6: 124,799,501 (GRCm39)	D349G	possibly damaging	Het
Vmn1r25	T	A	6: 57,956,306 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,344,167 (GRCm39)	Q2136R	possibly damaging	Het
Zfp28	G	A	7: 6,395,623 (GRCm39)	R134H		Het
Zfp712	A	G	13: 67,188,824 (GRCm39)	S568P	probably benign	Het

Other mutations in 4933405L10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01738:4933405L10Rik	APN	8	106,436,668 (GRCm39)	missense	probably damaging	0.98
IGL01845:4933405L10Rik	APN	8	106,435,567 (GRCm39)	missense	probably benign
R0096:4933405L10Rik	UTSW	8	106,435,563 (GRCm39)	splice site	probably null
R0096:4933405L10Rik	UTSW	8	106,435,563 (GRCm39)	splice site	probably null
R0396:4933405L10Rik	UTSW	8	106,436,412 (GRCm39)	missense	probably benign	0.06
R0711:4933405L10Rik	UTSW	8	106,435,563 (GRCm39)	splice site	probably null
R1037:4933405L10Rik	UTSW	8	106,436,144 (GRCm39)	missense	probably benign	0.32
R1816:4933405L10Rik	UTSW	8	106,436,491 (GRCm39)	missense	possibly damaging	0.50
R1843:4933405L10Rik	UTSW	8	106,435,606 (GRCm39)	missense	probably damaging	0.98
R4332:4933405L10Rik	UTSW	8	106,436,356 (GRCm39)	missense	possibly damaging	0.92
R4868:4933405L10Rik	UTSW	8	106,436,729 (GRCm39)	makesense	probably null
R5072:4933405L10Rik	UTSW	8	106,436,201 (GRCm39)	missense	possibly damaging	0.71
R5285:4933405L10Rik	UTSW	8	106,435,097 (GRCm39)	missense	probably benign
R5656:4933405L10Rik	UTSW	8	106,436,144 (GRCm39)	missense	probably benign	0.32
R6196:4933405L10Rik	UTSW	8	106,436,554 (GRCm39)	missense	possibly damaging	0.92
R6524:4933405L10Rik	UTSW	8	106,435,641 (GRCm39)	missense	possibly damaging	0.71
R6657:4933405L10Rik	UTSW	8	106,435,450 (GRCm39)	missense	probably damaging	0.98
R9578:4933405L10Rik	UTSW	8	106,436,505 (GRCm39)	missense	probably damaging	0.99
Z1088:4933405L10Rik	UTSW	8	106,436,395 (GRCm39)	missense	probably damaging	1.00
Z1177:4933405L10Rik	UTSW	8	106,436,607 (GRCm39)	missense	possibly damaging	0.73
Z1177:4933405L10Rik	UTSW	8	106,436,605 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACCCAGAGCTGAATCAGGAG -3'
(R):5'- TGGTTTAGGCCTAGACCAGG -3'

Sequencing Primer
(F):5'- AGGCCGAGTTAGCACTGGTTC -3'
(R):5'- CCTAGACCAGGGGTATTCTCAGTG -3'

Posted On

2022-10-06