Mutagenetix > Incidental Mutation

Incidental Mutation 'R0783:Fam110d'

76716

Institutional Source

Beutler Lab

Gene Symbol

Fam110d

Ensembl Gene

ENSMUSG00000050105

Gene Name

family with sequence similarity 110, member D

Synonyms

2810043G13Rik, Grrp1

MMRRC Submission

038963-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133978421-133981417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133979368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 37 (R37C)

Ref Sequence

ENSEMBL: ENSMUSP00000060143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060050] [ENSMUST00000205501]

AlphaFold

Q80X91

Predicted Effect

probably damaging
Transcript: ENSMUST00000060050
AA Change: R37C

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

SMART Domains

Protein: ENSMUSP00000060143
Gene: ENSMUSG00000050105
AA Change: R37C

Domain	Start	End	E-Value	Type
Pfam:FAM110_N	5	79	1.4e-14	PFAM
Pfam:FAM110_C	141	262	1.2e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138366

Predicted Effect

probably benign
Transcript: ENSMUST00000205501

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 92.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,893,380 (GRCm39)	G1277R	probably damaging	Het
Abi3bp	A	G	16: 56,415,601 (GRCm39)		probably null	Het
Acsm2	G	A	7: 119,172,340 (GRCm39)	G61D	probably damaging	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Bbs9	T	C	9: 22,479,010 (GRCm39)	L151S	possibly damaging	Het
Camk2g	T	A	14: 20,794,704 (GRCm39)	T173S	possibly damaging	Het
Eif3b	T	C	5: 140,405,592 (GRCm39)		probably benign	Het
Eif3i	A	C	4: 129,485,869 (GRCm39)	F319V	possibly damaging	Het
Eprs1	T	C	1: 185,130,655 (GRCm39)	L672P	probably damaging	Het
Fras1	C	T	5: 96,916,289 (GRCm39)	A3441V	probably damaging	Het
Gigyf2	T	A	1: 87,334,883 (GRCm39)	M79K	probably damaging	Het
Hdac1	T	C	4: 129,411,902 (GRCm39)	N331S	probably benign	Het
Hmcn1	C	T	1: 150,525,824 (GRCm39)	G3300S	probably damaging	Het
Iars2	T	C	1: 185,053,071 (GRCm39)	E400G	probably damaging	Het
Irx2	T	C	13: 72,780,769 (GRCm39)		probably null	Het
Itih4	G	A	14: 30,617,380 (GRCm39)	E567K	possibly damaging	Het
Klhl5	T	A	5: 65,313,596 (GRCm39)		probably benign	Het
Klk1b8	G	A	7: 43,451,621 (GRCm39)	G204E	probably damaging	Het
Loxhd1	T	C	18: 77,517,680 (GRCm39)	F1843L	possibly damaging	Het
Mllt6	T	C	11: 97,556,571 (GRCm39)	V87A	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nhlrc3	A	T	3: 53,369,870 (GRCm39)	S34T	probably benign	Het
Or10q1	T	C	19: 13,727,040 (GRCm39)	L190P	probably damaging	Het
Or4c119	A	T	2: 88,987,235 (GRCm39)	C95S	probably benign	Het
Or52b3	A	G	7: 102,203,646 (GRCm39)	I52V	probably benign	Het
Or52s1	T	C	7: 102,861,877 (GRCm39)	F259S	probably damaging	Het
Or5h25	A	T	16: 58,930,532 (GRCm39)	L147*	probably null	Het
Or8h9	A	G	2: 86,788,906 (GRCm39)	C299R	probably benign	Het
Pcnx4	T	C	12: 72,622,252 (GRCm39)	W1074R	probably damaging	Het
Pcsk9	T	C	4: 106,307,314 (GRCm39)	T310A	probably benign	Het
Pfas	A	G	11: 68,891,347 (GRCm39)	L250P	probably damaging	Het
Plk5	T	A	10: 80,196,964 (GRCm39)	D352E	probably benign	Het
Ryr3	A	G	2: 112,586,672 (GRCm39)		probably benign	Het
Serinc3	A	G	2: 163,478,923 (GRCm39)	I68T	possibly damaging	Het
Sez6l2	A	G	7: 126,566,317 (GRCm39)	T810A	possibly damaging	Het
Tmprss7	G	A	16: 45,487,969 (GRCm39)	Q487*	probably null	Het
Tnf	A	G	17: 35,420,650 (GRCm39)	I56T	probably damaging	Het
Ttbk2	A	T	2: 120,570,458 (GRCm39)	S1163T	possibly damaging	Het
Ttn	G	A	2: 76,573,874 (GRCm39)	T23927I	probably damaging	Het
Urb1	G	A	16: 90,607,185 (GRCm39)	A15V	possibly damaging	Het
Zfp128	C	T	7: 12,624,199 (GRCm39)	P189L	probably damaging	Het
Zfr	T	C	15: 12,162,268 (GRCm39)	V806A	probably damaging	Het

Other mutations in Fam110d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1521:Fam110d	UTSW	4	133,978,661 (GRCm39)	makesense	probably null
R4679:Fam110d	UTSW	4	133,978,747 (GRCm39)	missense	probably damaging	1.00
R5061:Fam110d	UTSW	4	133,979,041 (GRCm39)	missense	probably benign
R7509:Fam110d	UTSW	4	133,979,424 (GRCm39)	missense	probably damaging	1.00
R7651:Fam110d	UTSW	4	133,978,959 (GRCm39)	missense	probably damaging	1.00
Z1177:Fam110d	UTSW	4	133,978,881 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GCCGCAGTAGTTGAAGAATCGCTC -3'
(R):5'- TGGCTGATCCTCTACCCAGGAATG -3'

Sequencing Primer
(F):5'- TTTCTCCGACAGTGGCAG -3'
(R):5'- GAGAATTGCTCGCTGCTCC -3'

Posted On

2013-10-16