Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Rnf144b'

661409

Institutional Source

Beutler Lab

Gene Symbol

Rnf144b

Ensembl Gene

ENSMUSG00000038068

Gene Name

ring finger protein 144B

Synonyms

Ibrdc2, E130105P19Rik

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47122656-47247991 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47228976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 103 (Y103N)

Ref Sequence

ENSEMBL: ENSMUSP00000071017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068891] [ENSMUST00000110111]

AlphaFold

Q8BKD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000068891
AA Change: Y103N

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

SMART Domains

Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068
AA Change: Y103N

Domain	Start	End	E-Value	Type
RING	30	78	2.24e0	SMART
IBR	101	166	2.16e-16	SMART
IBR	172	238	1.3e0	SMART
RING	191	283	6.17e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110111
AA Change: Y103N

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

SMART Domains

Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068
AA Change: Y103N

Domain	Start	End	E-Value	Type
RING	30	78	2.24e0	SMART
IBR	101	166	2.16e-16	SMART
IBR	172	238	1.3e0	SMART
RING	191	283	6.17e-2	SMART

Meta Mutation Damage Score

0.8673

Coding Region Coverage

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

Validation Efficiency

93% (54/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	G	A	4: 144,670,113 (GRCm38)	R350C	possibly damaging	Het
Acsm3	T	A	7: 119,775,169 (GRCm38)	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486 (GRCm38)		probably benign	Het
Alk	T	C	17: 71,897,941 (GRCm38)	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584 (GRCm38)		probably null	Het
Anxa6	C	A	11: 55,001,282 (GRCm38)	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313 (GRCm38)	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069 (GRCm38)	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860 (GRCm38)	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910 (GRCm38)	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017 (GRCm38)	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510 (GRCm38)	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420 (GRCm38)	T340A	possibly damaging	Het
Czib	A	G	4: 107,895,599 (GRCm38)	N152D	unknown	Het
Dera	A	T	6: 137,830,204 (GRCm38)	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804 (GRCm38)	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621 (GRCm38)	T152M	probably damaging	Het
Entrep1	T	C	19: 23,988,494 (GRCm38)	K214E	probably damaging	Het
Epb41l2	C	T	10: 25,443,776 (GRCm38)	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142 (GRCm38)	D407G	unknown	Het
Gli3	T	A	13: 15,715,034 (GRCm38)	C578S	probably damaging	Het
Gm6408	A	G	5: 146,482,427 (GRCm38)	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919 (GRCm38)		probably benign	Het
Herc2	C	A	7: 56,188,613 (GRCm38)	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073 (GRCm38)		probably benign	Het
Hyal4	C	A	6: 24,755,827 (GRCm38)	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677 (GRCm38)		probably benign	Het
Kcna3	A	G	3: 107,036,592 (GRCm38)	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596 (GRCm38)	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137 (GRCm38)	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430 (GRCm38)		probably null	Het
Mtres1	A	G	10: 43,532,937 (GRCm38)	L70S	probably benign	Het
Myh13	T	A	11: 67,342,485 (GRCm38)	L610Q	probably damaging	Het
Or13p5	C	A	4: 118,735,038 (GRCm38)	P170T	probably damaging	Het
Or5ap2	T	A	2: 85,849,902 (GRCm38)	M150K	probably benign	Het
Or8b52	T	C	9: 38,665,768 (GRCm38)	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076 (GRCm38)	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387 (GRCm38)	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746 (GRCm38)	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986 (GRCm38)	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630 (GRCm38)	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065 (GRCm38)	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952 (GRCm38)	I413T	possibly damaging	Het
Rspry1	G	C	8: 94,632,119 (GRCm38)	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619 (GRCm38)	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781 (GRCm38)	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159 (GRCm38)	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903 (GRCm38)	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708 (GRCm38)		probably benign	Het
Tek	A	T	4: 94,849,837 (GRCm38)	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027 (GRCm38)	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822 (GRCm38)	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829 (GRCm38)	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252 (GRCm38)	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760 (GRCm38)	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379 (GRCm38)		probably benign	Het
Zfp423	C	A	8: 87,782,710 (GRCm38)	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654 (GRCm38)	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840 (GRCm38)	S116R	probably benign	Het

Other mutations in Rnf144b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Rnf144b	APN	13	47,220,488 (GRCm38)	splice site	probably benign
IGL00987:Rnf144b	APN	13	47,207,493 (GRCm38)	missense	possibly damaging	0.57
IGL02712:Rnf144b	APN	13	47,239,779 (GRCm38)	missense	probably damaging	1.00
IGL03002:Rnf144b	APN	13	47,242,883 (GRCm38)	missense	probably damaging	1.00
R0418:Rnf144b	UTSW	13	47,244,490 (GRCm38)	missense	probably benign	0.00
R0464:Rnf144b	UTSW	13	47,242,887 (GRCm38)	nonsense	probably null
R0652:Rnf144b	UTSW	13	47,220,507 (GRCm38)	missense	probably damaging	1.00
R0932:Rnf144b	UTSW	13	47,220,525 (GRCm38)	missense	probably null	0.44
R1472:Rnf144b	UTSW	13	47,242,885 (GRCm38)	missense	probably damaging	1.00
R2341:Rnf144b	UTSW	13	47,220,500 (GRCm38)	missense	probably benign	0.05
R4306:Rnf144b	UTSW	13	47,242,942 (GRCm38)	missense	probably damaging	1.00
R4308:Rnf144b	UTSW	13	47,242,942 (GRCm38)	missense	probably damaging	1.00
R4523:Rnf144b	UTSW	13	47,207,537 (GRCm38)	missense	probably benign	0.08
R5591:Rnf144b	UTSW	13	47,242,954 (GRCm38)	critical splice donor site	probably null
R7323:Rnf144b	UTSW	13	47,239,782 (GRCm38)	missense	probably damaging	1.00
R7887:Rnf144b	UTSW	13	47,239,811 (GRCm38)	missense	probably damaging	1.00
R9159:Rnf144b	UTSW	13	47,242,872 (GRCm38)	missense	probably damaging	1.00
R9708:Rnf144b	UTSW	13	47,244,436 (GRCm38)	missense	probably damaging	1.00
X0064:Rnf144b	UTSW	13	47,237,464 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGAACTTCATCACTGATGGGG -3'
(R):5'- GTGCCAATTGCTGTTTCCAC -3'

Sequencing Primer
(F):5'- CATGTGTTGCTGCATGATCAAG -3'
(R):5'- AATTGCTGTTTCCACTCCTTGCAG -3'

Posted On

2021-03-08